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First Trimester Screening for Chromosomal Abnormalities V2

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The 20 week scan - your choice

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Information and choices for those at risk of having a baby with sickle cell or thalassaemia

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Information and choices for those at risk of having a baby with sickle cell or thalassaemia

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These public information leaflets cover screening in pregnancy for:

infectious diseases

sickle cell and thalassaemia

Down's syndrome, Edwards' syndrome and Patau's syndrome

11 physical conditions (20-week scan)

diabetic eye disease

Printed copies of the Screening tests for you and your baby invitation leaflet are provided free of charge for local screening services to give to individuals who cannot access the internet.

All the other public information leaflets listed here are available as online HTML publications to signpost people to as appropriate. They can also be printed off locally for people who cannot access digital information.

See how to print digital leaflets if you need to provide copies to people who cannot access the internet.

Contact the PHE Screening helpdesk with any queries about this publication, making sure you include its full title.

This leaflet contains information about all the screening tests offered during pregnancy and for newborn babies.

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Screening in pregnancy: information leaflets

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These public information leaflets cover screening in pregnancy for: infectious diseases sickle cell and thalassaemia Down's syndrome, Edwards' syndrome and Patau's syndrome 11 physical conditions (20-week scan) diabetic eye disease Printed copies of the Screening tests for you and your baby invitation leaflet are provided free of charge for local screening services to give to individuals who cannot access the internet.

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Screening in pregnancy: CVS and amniocentesis information for parents

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Screening in pregnancy: CVS and amniocentesis information for parents

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Newborn hearing screening: your baby’s visit to the audiology clinic

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Newborn hearing screening: your baby’s visit to the audiology clinic

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This leaflet explains why your baby needs to see an audiologist for more tests at an audiology clinic and what those tests involve. An audiologist is a health professional who specialises in hearing.

1. Your baby's visit to the audiology clinic

Audiology clinics have special equipment to test your baby's hearing. These tests will give better information about your baby's hearing.

Early testing means you will know if your baby has a hearing loss when they are still very young. This is important for their future development.

Your baby needs more tests because their hearing screening tests did not show a clear response in one or both ears. About 2 to 3 babies in every 100 do not show a clear response and are referred to audiology.

Most babies tested at an audiology clinic are found to have satisfactory hearing.

About 1 in 15 babies tested at the audiology clinic have a permanent hearing loss in one or both ears. Some have a temporary hearing loss. Finding out about hearing loss early gives babies a better chance of developing language, speech and communication skills as well as making sure their families receive the support they need.

It is important you bring your baby to the appointment. This is because they may need other tests to find a possible cause if they do have a hearing loss. These tests should be performed within the first few weeks of birth.

Some babies who have a hearing loss do react to sounds. The hearing loss may not be picked up without the tests in audiology.

If your baby does have a hearing loss, it is important to find out as soon as possible.

2. What happens at the clinic

The appointment will usually take about 1 to 2 hours. This includes time to settle your baby. The tests give more detailed information about your baby's hearing. They will not hurt or be uncomfortable for your baby. You can stay with your baby while they are tested.

The audiologist may use an otoacoustic emission ( OAE) test. This involves putting a small soft-tipped earpiece in the outer part of your baby's ear. The earpiece sends clicking sounds down the ear.

The inner part of the ear, known as the cochlea, usually produces a response when it receives sound. The testing equipment can pick up this response.

They may also use an auditory brainstem response ( ABR) test. This involves placing small sensors on your baby.

Sounds at different frequencies are played in your baby's ears. A computer records the response so the audiologist can measure how well your baby's ears respond.

Your audiologist will tell you what the results mean and if your baby needs any more appointments.

3. Possible results

If the tests show a hearing loss, your audiologist will explain what the results mean. Your baby may need more tests to measure the amount and type of hearing loss.

The results of the tests will help the audiologist give you and your baby the right support and information.

If you are told your baby has satisfactory hearing, this means they are unlikely to have a hearing loss. But children can develop a hearing loss later, so it is important to check their hearing as they grow up.

Your personal child health record book contains checklists of the sounds your baby should react to and the sounds they should make as they grow older.

If you have any concerns you should discuss them with your health visitor or GP. Your child's hearing can be tested again at any age.

4. More information

You can contact the audiology department that will carry out the test. You can also speak to your hearing screening team, health visitor, midwife or GP.

If the time of the appointment you have been given is not convenient, please telephone to rearrange. As you may be in the audiology clinic for a while, please make sure you have enough nappies and feeds for your baby. You may also want to bring somebody with you.

Read more about newborn hearing on the NHS website.

Contact the National Deaf Children's Society:

The NHS Screening Programmes use your personal information to ensure you are invited for screening at the right time. Public Health England also uses your information to ensure you receive high quality care. You can find out more about how your information is used and protected, and your options.

You can contact us for a Braille version of this leaflet.

Get more information about newborn hearing screening.

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Newborn hearing screening: your baby's visit to the audiology clinic

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening. This leaflet explains why your baby needs to see an audiologist for more tests at an audiology clinic and what those tests involve.

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Screening tests for babies in special care units

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Screening tests for babies in special care units

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Public Health England ( PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This leaflet is for parents of babies who are in a special care baby unit, neonatal intensive care unit or paediatric intensive care unit.

We understand this is likely to be a stressful time for you and your family. This information will help you and your health professionals to talk through how newborn screening tests fit into all the other parts of your baby's care. This information should support, but not replace, discussions you have with health professionals.

It explains some important differences in the way newborn screening tests are carried out for babies in special care baby units. It is important you also read the Screening tests for you and your baby booklet that you received during your pregnancy. This explains all the screening tests offered for newborn babies.

The screening tests covered here should ideally be completed before you take your baby home.

If your baby was born very prematurely, born before 28 weeks, you may need to wait a few weeks for some tests. Newborn hearing screening testing can only happen once a baby reaches 34 weeks corrected age.

Corrected age is the number of weeks after becoming pregnant, rather than the number of weeks after birth.

For example, a baby born after 28 weeks of pregnancy would need to wait 6 weeks after birth to have their newborn hearing screening test.

Your baby's health care team will be able to answer any questions you might have.

It is your choice whether or not to have any of the tests described in this booklet.

The NHS Screening Programmes use your personal information to ensure you are invited for screening at the right time. PHE also uses your information to ensure you receive high quality care. You can find out more about how your information is used and protected, and your options.

1. Eyes, heart, hips and testes (physical examination)

1.1 The purpose of the screening test

All babies should be offered a newborn physical examination after birth. This includes examination of the eyes, heart, hips and testes (in boys).

1.2 How the test is different

The newborn physical examination screening tests will not be done until your baby is well enough. If you choose to have this screening test, the examination should take place before your baby goes home.

You will be offered a further examination when your baby is 6 to 8 weeks of age, as some conditions can become apparent later.

2. Blood spot

2.1 The purpose of the screening test

The test is to find out if your baby has any of 9 rare but serious health conditions. These are:

sickle cell disease (SCD)

cystic fibrosis (CF)

congenital hypothyroidism (CHT)

6 inherited metabolic diseases (IMDs):

phenylketonuria (PKU)

medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

maple syrup urine disease (MSUD)

isovaleric acidaemia (IVA)

glutaric aciduria type 1 (GA1)

homocystinuria (pyridoxine unresponsive) (HCU)

Early treatment can improve your baby's health and prevent severe disability or even death. If you or a family member already has one of these conditions, please tell your baby's health care team straight away.

2.2 Why screening is different for babies in special care units

The blood spot sample is usually taken when a baby is 5 days old. However, the timing is different when a baby is ill and in a special care baby unit.

2.3 How the test is different

The blood spot sample needs to be taken as soon as possible after your baby is born to screen for SCD. This is in case your baby needs a blood transfusion - the test for SCD would be inaccurate if a sample for screening is taken after a transfusion.

Another blood spot sample to screen for the other conditions will then be taken when your baby is 5 days old. If your baby has a transfusion, this test might be delayed until they are 8 days old.

If your baby is born before 32 weeks of pregnancy, another sample should be taken to test for CHT. This should happen when your baby is 28 days old or when you take your baby home, whichever comes first.

2.4 Getting my results

You should receive your baby's results by letter or from your health visitor within 6 weeks.

3. Hearing loss

3.1 The purpose of the screening test

To find babies who have a permanent hearing loss so that support and advice can be offered right from the start.

3.2 Why screening is different for babies in special care units

1 to 2 babies in every 1,000 are born with a permanent hearing loss in one or both ears. This number increases to about 1 in every 100 babies who have spent at least 48 hours in a special care unit.

Your baby will need to be at least 34 weeks corrected age before having their hearing screening test. The test can be carried out up to 3 months of age and should be done when treatment is complete and your baby is well enough.

Your baby's health care team will advise the most appropriate time for your baby's test to take place.

3.3 How the test is different

If your baby has been in a special care baby unit for more than 48 hours, they will need to have 2 types of hearing screening tests.

These are an AOAE (automated otoacoustic emission) test and an AABR (automated auditory brainstem response) test.

If the test results do not show a clear response, an appointment will be made with a hearing specialist in the audiology department. About 9 babies in every 100 cared for in a special care unit for more than 48 hours do not show a clear response to the screening tests. It is very important that you attend the appointment in case your baby has a hearing loss.

Finding out about hearing loss early gives babies a better chance of developing language, speech and communication skills.

Screening does not pick up all types of hearing loss, so it is important to check your child's hearing as they grow up. If you have any concerns about your child's hearing, you should tell your health visitor or GP.

4. Infectious diseases

4.1 The purpose of the screening test

During pregnancy, we offer and recommend women a blood test to screen for infectious diseases like hepatitis B, HIV (human immunodeficiency virus) and syphilis.

Premature babies born to mothers who have tested positive for hepatitis B will need special monitoring and care.

4.2 How follow-on care is different

Babies born weighing less than 1500g need immunoglobulin (antibodies that fight infection) and the hepatitis B vaccination.

It is very important premature babies have all 6 recommended hepatitis B vaccinations at the right age. Very premature babies (born before 28 weeks) may need their breathing monitored for 2 to 3 days after their first vaccination.

Vaccinations should take place:

within 24 hours at birth (and immunoglobulin)

at 4 weeks of age

at 8, 12 and 16 weeks of age (part of routine childhood immunisation schedule)

at one year of age

Babies also need to have a blood test at their final vaccination at one year to check if infection has been avoided.

5. More information

Details of organisations that can provide support for parents when their baby needs special care are available on NHS.UK.

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Screening tests for you and your baby: babies in special care units

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Public Health England ( PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening. This leaflet is for parents of babies who are in a special care baby unit, neonatal intensive care unit or paediatric intensive care unit.

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آپ اور آپ کے بچے کے لئے سکریننگ ٹیسٹ

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Screening tests for you and your baby (UR)

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Macluumaadka ku saabsan baaritaanada la bixiyo inta lagu jiro xilliga uurka iyo kadibba.

Dukumentiyada

Faah-faahin

Macluumaadkaani wuxuu ku saabsan yahay baaritaanada lagu siin doono inta aad uurka leedahay iyo kadib dhalashada cunuggaaga. Wuxuu sharraxayaa noocyada kala duwan ee baaritaanada iyo waxa baaritaanadani lagu raadinayo. Wuxuu sharaxayaa noocyada kala duwan ee eegid iyo waxa eegidda lagu ogaanayo.

Waxaan rajeyneynaa in haddii aad akhriso macluumaadkaan uu kaa caawinayo inaad u diyaar garowdo inaad wada hadal la yeelatid umulisadaada ama dhaqtarkaaga si aad u weydiiso su'aalaha adiga muhiimka kuu ah.

Waa adiga go'aankaaga haddii aad qaadan lahayd mid ka mid ah baaritaanadan la sharraxay iyo haddii kalaba.

Macluumaadka waxaa sidoo kale lagu heli karaa PDF iyo 12 luqadood oo kale. Bixiyeyaasha deegaanka ahi waa inay bixiyaan wixii tarjumaad oo cusub oo dheeraad ah.

Nooca daabacaadda ayaa la heli karaa Ku dalbo Ingiriis.

Noocyada aqriska fudud oo loogu talagalay dadka qaba naafonimada waxbarasho ayaa sidoo kale la heli karaa si loo soo dejiyo.

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Baaritaano loogu talagalay adiga iyo cunuggaaga

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Screening tests for you and your baby (SO)

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Informații despre testele de screening în timpul sarcinii și după sarcină.

Detalii

Această broșură vă oferă informații despre testele de screening care vă sunt oferite în timpul sarcinii și după nașterea bebelușului dumneavoastră. Vă explică diferitele tipuri de teste și ce anume evaluează aceste teste.

Sperăm că citind această broșură, vă va pregăti pentru discuțiile cu moașa sau cu medicul dumneavoastră astfel încât să puteți pune întrebările care sunt importante pentru dumneavoastră.

Este decizia dumneavoastră dacă veți face sau nu testele descrise în această broșură. Informațiile sunt disponibile și în format PDF și alte 12 limbi.

Furnizorii locali trebuie să comande orice alte traduceri suplimentare. O versiune tipărită este disponibilă pentru a fi comandată în limba engleză.

Versiuni ușor de citit pentru persoanele cu dificultăți de înțelegere sunt, de asemenea, disponibile pentru a fi descărcate.

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Teste de screening pentru dumneavoastră și bebelușul dumneavoastră.

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Informații despre testele de screening în timpul sarcinii și după sarcină.

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Screening tests for you and your baby (RO)

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Informação sobre os testes de rastreio durante e após a gravidez.

Documentos

Detalhes

Este folheto contém informação sobre os testes que poderá fazer durante a gravidez e após o seu bebé nascer. Aqui encontrará informação sobre os diferentes tipos de testes e os seus propósitos.

Esperamos que este folheto a ajude a preparar-se antes de falar com a sua parteira ou médico, para que possa fazer as perguntas que são importantes para si.

A decisão de fazer ou não qualquer um dos testes descritos neste folheto é sua. A informação também se encontra disponível em PDF e 12 outras línguas. Os provedores locais devem requerer eventuais novas traduções.

Pode obter uma versão impressa e pode requerê-la em inglês.

Também pode descarregar versões fáceis de ler e perceber para pessoas com dificuldades de aprendizagem.

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Testes de rastreio para si e para o seu bebé

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Screening tests for you and your baby (PT)

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ਤੁਹਾਡੀ ਗਰਭ ਅਵਸਥਾ ਦੇ ਦੌਰਾਨ ਅਤੇ ਉਸ ਤੋਂ ਬਾਦ ਕੀਤੇ ਜਾਣ ਵਾਲੇ ਸਕ੍ਰੀਨਿੰਗ ਟੈਸਟਾਂ ਬਾਰੇ ਜਾਣਕਾਰੀ।

ਵੇਰਵੇ

ਇਹ ਜਾਣਕਾਰੀ ਉਨ੍ਹਾਂ ਸਕ੍ਰੀਨਿੰਗ ਟੈਸਟਾਂ ਬਾਰੇ ਹੈ ਜੋ ਤੁਹਾਨੂੰ ਗਰਭ ਅਵਸਥਾ ਦੇ ਦੌਰਾਨ ਅਤੇ ਤੁਹਾਡੇ ਬੱਚੇ ਦੇ ਜਨਮ ਤੋਂ ਬਾਅਦ ਦਿੱਤੇ ਜਾਣਗੇ। ਇਹ ਵੱਖ-ਵੱਖ ਤਰ੍ਹਾਂ ਦੇ ਟੈਸਟਾਂ ਬਾਰੇ ਵਿਆਖਿਆ ਕਰਦੀ ਹੈ ਕਿ ਟੈਸਟਾਂ ਵਿੱਚ ਕਿਹੜੀਆਂ ਚੀਜ਼ਾਂ ਉਤੇ ਨਜ਼ਰ ਰੱਖੀ ਜਾਵੇਗੀ।

ਸਾਨੂੰ ਉਮੀਦ ਹੈ ਕਿ ਇਸਨੂੰ ਪੜ੍ਹਨ ਨਾਲ ਤੁਹਾਨੂੰ ਆਪਣੀ ਦਾਈ ਜਾਂ ਡਾਕਟਰ ਨਾਲ ਵਿਚਾਰ-ਵਟਾਂਦਰੇ ਲਈ ਤਿਆਰੀ ਕਰਨ ਵਿੱਚ ਮਦਦ ਮਿਲੇਗੀ ਤਾਂ ਜੋ ਤੁਸੀਂ ਉਹ ਸਵਾਲ ਪੁੱਛ ਸਕੋ ਜੋ ਤੁਹਾਡੇ ਲਈ ਮਹੱਤਵਪੂਰਨ ਹਨ। ਇਹ ਤੁਹਾਡਾ ਫੈਸਲਾ ਹੈ ਕਿ ਤੁਸੀਂ ਦੱਸੇ ਗਏ ਟੈਸਟ ਕਰਵਾਉਣਾ ਚਾਹੁੰਦੇ ਹੋ ਜਾਂ ਨਹੀਂ। ਇਹ ਜਾਣਕਾਰੀ \ PDF ਅਤੇ 12 ਹੋਰ ਭਾਸ਼ਾਵਾਂ ਵਿਚ ਵੀ ਉਪਲਬਧ ਹੈ. ਸਥਾਨਕ ਪ੍ਰਦਾਤਾ ਨੂੰ ਕੋਈ ਵੀ ਹੋਰ ਨਵੇਂ ਅਨੁਵਾਦ ਸਥਾਪਿਤ ਕਰਨੇ ਚਾਹੀਦੇ ਹਨ। ਇੱਕ ਪ੍ਰਿੰਟ ਸੰਸਕਰਣ ਅੰਗਰੇਜ਼ੀ ਵਿੱਚ ਆਰਡਰ ਲਈ ਉਪਲਬਧ ਹੈ.

ਆਸਾਨੀ ਨਾਲ ਪੜ੍ਹੇ ਜਾ ਸਕਣ ਵਾਲੇ ਸੰਸਕਰਣ ਸਿੱਖਣ ਦੀ ਅਯੋਗਤਾ ਵਾਲੇ ਲੋਕਾਂ ਲਈ ਡਾਉਨਲੋਡ ਕਰਨ ਲਈ ਵੀ ਉਪਲਬਧ ਹਨ।

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Badania przesiewowe wykonywane w ciąży oraz po porodzie

Szczegóły

Niniejsza ulotka zawiera informacje na temat badań przesiewowych, które są proponowane podczas ciąży oraz po narodzinach dziecka. Zawarte w niej informacje dotyczą różnych rodzajów badań oraz tego, co jest ich celem.

Mamy nadzieję, że zapoznanie się z tą ulotką pomoże w przygotowaniu się do rozmowy z położną lub lekarzem oraz do zadania im ważnych dla Ciebie pytań.

Decyzja o poddaniu się któremukolwiek z opisanych badań należy do Ciebie. Te informacje dostępne są również w PDF oraz 12 innych językach. Dostawcy lokalni powinni zlecać wszelkie dodatkowe nowe tłumaczenia.

Wersja drukowana dostępna jest z zamówienie z języku angielskim. Wersje uproszczone można również pobrać dla osób z niepełnosprawnością intelektualną.

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Badania przesiewowe dla Ciebie i Twojego dziecka

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Badania przesiewowe wykonywane w ciąży oraz po porodzie

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Screening tests for you and your baby (PL)

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Atrankinės patikros tyrimai jums ir jūsų kūdikiui

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Informacija apie atrankinės patikros tyrimus, siūlomus nėštumo metu ir po nėštumo.

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Screening tests for you and your baby (LT)

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Informācija par grūtniecības laikā un pēc grūtniecības piedāvātajiem skrīninga testiem

Detalizēta informācija

Šī informācija attiecas uz skrīninga testiem, kas jums tiks piedāvāti grūtniecības laikā un pēc bērna piedzimšanas. Tā izskaidro dažādu veidu testus un to nolūkus.

Mēs ceram, ka informācijas izlasīšana palīdzēs jums sagatavoties diskusijām ar vecmāti vai ārstu, lai jūs varētu uzdot jautājumus, kas ir svarīgi jums.

Lēmums par aprakstīto testu veikšanu vai neveikšanu ir jūsu ziņā. Informācija ir pieejama arī PDF un 12 citās valodās. Vietējiem pakalpojumu sniedzējiem jānodrošina jebkādi papildu jauni tulkojumi.

Drukas versija ir pieejama pasūtīšanai angļu valodā.

Viegli lasāmas versijas cilvēkiem ar attīstības traucējumiem arī ir pieejamas lejupielādei.

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Screening tests for you and your baby (LV)

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Informations relatives aux tests de dépistage offerts pendant et après votre grossesse

Détails

Cette brochure vous informe des tests de dépistage qui vous seront proposés lors de votre grossesse et une fois que votre enfant sera né. Celle-ci explique les différents types de test et leurs fonctions.

Nous espérons que cette brochure vous aidera à préparer vos rendez-vous avec votre médecin ou sage-femme afin de pouvoir leur poser les questions que vous jugez importantes.

Il vous revient de décider si vous souhaitez subir ou non les tests décrits dans cette brochure.

Ces informations sont également disponibles sous forme de PDF et dans 12 autres langues. Si nécessaire, les fournisseurs locaux doivent commander des traductions dans d'autres langues.

Une version imprimée peut être commandée en anglais.

Des versions faciles à lire pour les personnes atteintes de troubles de l'apprentissage peuvent également être téléchargées.

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Tests de dépistage pour vous et votre enfant

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Screening tests for you and your baby (FR)

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为您和您的宝宝提供的筛查检测

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Screening tests for you and your baby (ZH)

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Screening tests for you and your baby (BSL)

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معلومات عن فحوصات الفرز التي سيتم عرضها عليك أثناء وبعد الحمل.

التفاصيل

هذه المعلومات عن فحوصات الفرز التي سيتم عرضها عليك أثناء فترة الحمل وبعد ولادة طفلك. إنه يفسر الأنواع المختلفة من الفحوصات وما تبحث عنه. نأمل أن تساعدك قراءة هذه المعلومات في إعدادك لمناقشة ممرضة التوليد او طبيبك بحيث يمكنك أن تطرحي الأسئلة المهمة بالنسبة لك. إن قرار إجراء أي من الفحوصات التي تم وصفها من عدمه يرجع لك وحدك. تتوفر المعلومات أيضًا في PDF و 12 لغة أخرى. يجب على مقدمي الخدمات المحليين بعمل أي ترجمات جديدة إضافية. تتوفر نسخة مطبوعة لـل طلب باللغة الإنجليزية. [إصدارات سهلة القراءة] (https://www.gov.uk/government/publications/screening-tests-for-you-and-your-baby-easy- Guides) للأشخاص الذين يعانون من صعوبات التعلم وتتوفر أيضا للتحميل.

[طلب باللغة الإنجليزية] تتوفر نسخة مطبوعة لـل(https://phe-screening.theapsgroup.com/Login.html).

إصدارات سهلة القراءة للأشخاص الذين يعانون من صعوبات التعلم وتتوفر أيضا للتحميل.

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فحوصات الفرز لك ولطفلك

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আপনার ও আপনার শিশুর জন্য স্ক্রিনিং পরীক্ষাসমূহ

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গর্ভকালীন সময় এবং তার পরবর্তীকালে পরিচালিত স্ক্রিনিং পরীক্ষাসমূহ

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Screening tests for you and your baby (BN)

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Screening tests for you and your baby (AR)

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Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome - easy read guide

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Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome - easy read guide

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Infectious diseases in pregnancy (English)

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This short animation explains screening for infectious diseases in pregnancy.
Infectious diseases in pregnancy video
Screening for infectious diseases is recommended by the NHS.

1. Purpose of screening

To find out if you have hepatitis B, HIV (human immunodeficiency virus) or syphilis. Women already known to have HIV or hepatitis B need early specialist appointments to plan their care in pregnancy.

2. About these conditions

Hepatitis B and HIV are passed on in blood and body fluids through sexual contact or infected needles. These viruses can also be passed from mother to baby.

Hepatitis B

Hepatitis B virus affects the liver. It can cause acute (immediate) and chronic (long-term) ill health. Babies infected at birth or during the first year of life have a 9 in 10 (90%) chance of developing lifelong hepatitis B infection. This can lead to illnesses such as liver infections and cancers.

HIV weakens the immune system making it difficult to fight off infections. If untreated, it can be passed from mother to baby in pregnancy, when giving birth or by breastfeeding. Treatment in pregnancy greatly reduces the chance of passing on HIV to a baby from 1 in 4 (25%) to less than 1 in 200 (0.5%).

Syphilis

Syphilis is an infection passed on through sexual contact. It can be passed from mother to baby during pregnancy. If it is untreated, it can result in serious health problems for a baby or cause miscarriage or stillbirth.

3. The screening test

Blood is taken from your arm.

A blood sample being taken

A small amount of this blood is stored in the laboratory. This can be used for tests if you show signs of other infections or rashes during your pregnancy.

4. Safety of the test

There are no risks associated with the test.

5. Screening is your choice

These tests are strongly recommended to protect your health through early treatment and care. They greatly reduce any chance of passing an infection onto your baby, partner or other family members.

6. Not having the test

If you decide not to be tested, you will be reoffered screening later in pregnancy, ideally by 20 weeks.

7. Negative result

A negative result means you are 'negative now'. This does not mean you are protected throughout your pregnancy. Protect yourself from infection and report symptoms as soon as possible to your midwife or GP. You and your partner can be tested at any time.

We recommend repeat testing if you change your sexual partner, inject drugs, are a sex worker, have an infected partner, have a partner who is sexually active with other people or are diagnosed with a sexually transmitted infection ( STI).

8. Positive result

If you have hepatitis B it is important for specialist teams to check your health before and after the birth. Your partner, any other children and close family members may need testing and vaccination.

It is very important that your baby has all 6 recommended hepatitis B vaccinations at the correct times to protect their health. Ask your GP, practice nurse or health visitor if any of these do not happen. Vaccinations should take place:

within 24 hours of birth

at 4 weeks of age

at 8, 12 and 16 weeks of age (part of routine childhood immunisation schedule)

at one year of age

Your baby may also need an injection of antibodies (hepatitis B immunoglobin) at their first vaccination.

They will also have a blood test at their final vaccination to check if infection has been avoided.

If you have HIV you can greatly reduce the chance of passing HIV on to your baby with specialist care and treatment, drugs, planned care for your birth, and by not breastfeeding.

If you have syphilis urgent referral to a specialist team is needed. Treatment is usually a course of antibiotics. These are safe for your baby. The team will also offer to test your partner to see if they need treatment. Your baby will need an examination and blood tests after birth and may need antibiotics.

9. Getting my results

If your result is negative your midwife will discuss it with you. This will happen at or before your next antenatal appointment at about 16 weeks. It will also be recorded in your notes.

If you are positive for HIV, hepatitis B or syphilis a specialist midwife will contact you to arrange an appointment within 10 days. They will discuss the result, carry out further tests and plan your care with you.

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening. This short animation explains screening for infectious diseases in pregnancy. Infectious diseases in pregnancy video Screening for infectious diseases is recommended by the NHS.

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This information was created on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This short video explains blood spot screening in newborn babies.
Newborn blood spot video
Blood spot screening is recommended by the NHS.

1. Purpose of screening

To find out if your baby has any of 9 rare but serious health conditions.

Early treatment can improve your baby's health and prevent severe disability or even death. If you, the baby's father, or a family member already has one of these conditions, please tell your health professional straight away.

2. About these conditions

2.1 Sickle cell disease

About 1 in 2,800 babies born in the UK has a sickle cell disease ( SCD). These are serious, inherited blood diseases. They affect haemoglobin, a part of the blood that carries oxygen around the body. Babies who have SCD will need specialist care throughout their lives.

People with SCD can have attacks of severe pain, get serious, life-threatening infections and are usually anaemic (their bodies have difficulty carrying oxygen). Babies with SCD can receive early treatment, including vaccinations and antibiotics, which, along with support from their parents, will help prevent serious illness and allow them to live a healthier life.

2.2 Cystic fibrosis

About 1 in 2,500 babies born in the UK has cystic fibrosis ( CF). This inherited condition affects the digestion and lungs. Babies with CF may not gain weight well and frequently have chest infections. Babies with CF can be treated early with a high-energy diet, medicines and physiotherapy. Although children with CF may still become very ill, early treatment can help them live longer, healthier lives.

2.3 Congenital hypothyroidism

About 1 in 2,000 babies born in the UK has congenital hypothyroidism ( CHT). Babies with CHT do not have enough of the hormone thyroxine. Without thyroxine babies do not grow properly and they can develop permanent serious physical problems and learning disabilities.

Babies with CHT can be treated early with thyroxine tablets and this will allow them to develop normally.

It is important to let your health professional know if you have a family history of a metabolic condition. Babies are screened for 6 inherited metabolic diseases (IMDs).

These are:

phenylketonuria (PKU)

medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

maple syrup urine disease (MSUD)

isovaleric acidaemia (IVA)

glutaric aciduria type 1 (GA1)

homocystinuria (pyridoxine unresponsive) (HCU)

About 1 in 10,000 babies born in the UK has PKU or MCADD. The other conditions are rarer, occurring in 1 in 150,000 babies to 1 in 300,000 babies.

Babies with these inherited conditions cannot process certain substances in their food. Without treatment babies with some of these conditions can become suddenly and seriously ill. The symptoms of the conditions are different; some may be life threatening or lead to severe developmental problems.

They can all be treated by a carefully managed diet, which is different for each condition and may include additional medicines.

3. The screening test

When your baby is 5 days old the health professional will prick your baby's heel using a special device to collect some drops of blood onto a card. Occasionally this may be later than 5 days. The heel prick may be uncomfortable and your baby may cry. You can help by making sure your baby is warm and comfortable, and by cuddling and feeding them.

Sometimes, a second blood spot sample is required later on. If so, the reason will be explained. It does not necessarily mean there is something wrong with your baby.

4. Safety of the test

There are no known risks to your baby associated with having the test.

5. Screening is your choice

Screening your baby for all these conditions is recommended because it could save your baby's life but it is not compulsory. You can choose to have screening for SCD, CF or CHT individually but can only choose to have screening for all 6 IMDs or none at all. If you do not want your baby screened for any of the conditions or have any concerns about the test, please talk to your midwife.

Early screening is best as treatment can be started as soon as possible if needed. But if you choose not to have screening, your baby can have the test later if you change your mind. Babies can be screened up to 12 months of age for all the conditions except CF (only up to 8 weeks of age).

6. Possible results

Most babies will have normal results indicating that it is unlikely that they have any of the conditions. A small number of babies will screen positive for one of the conditions. This does not mean they have the condition but they are more likely to have it. They will be referred to a specialist for further tests.

Screening for cystic fibrosis finds some babies who may be genetic carriers of the condition. These babies may need further testing. Screening does not detect all carriers.

Occasionally, other medical conditions might be identified through these screening tests. For example, babies with beta thalassaemia major (a serious blood disease) will usually be detected. These children also need to be referred for lifelong treatment and care.

Screening for sickle cell disease also finds babies who are genetic carriers of these or other red blood cell diseases. Carriers are healthy although they can experience some problems in situations where their bodies might not get enough oxygen, for example, if they are having an anaesthetic.

7. Getting my results

You should receive the results from a health professional by the time your baby is 6 weeks old. The results should be recorded in your baby's personal child health record ('red book'). Please keep this safe and bring it with you to any further appointments. You will be contacted sooner if there is thought to be any problem with your baby.

8. My baby's blood spot card and data after screening

After screening blood spot cards are stored for at least 5 years and may be used:

to check the result or for other tests recommended by your doctor

to improve the screening programme

for research to help improve the health of babies and their families in the UK (this will not identify your baby and you will not be contacted)

In addition, there is a small chance that researchers may want to invite you or your child to take part in information gathering linked to the newborn blood spot screening programme. Researchers undertaking any additional studies would explain what is being done and you would then be asked if you wish to take part in that study. Please let your midwife know if you do not want to be contacted to discuss taking part in any additional information gathering.

All use of the blood spots is governed by the code of practice. Any research will have been approved by an independent research ethics committee.

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This information was created on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening. This short video explains blood spot screening in newborn babies. Newborn blood spot video Blood spot screening is recommended by the NHS.

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word ‘we’ refers to the NHS service that provides screening.

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Newborn and infant physical examination video

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Newborn and infant physical examination video

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Newborn and infant physical examination (English)

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This short video explains screening for eyes, heart, hips and testes in newborn babies.
Newborn and infant physical examination video
The newborn physical examination is recommended by the NHS.

1. Purpose of screening

Within 72 hours of giving birth, you will be offered a top-to-toe physical examination for your baby. This will include 4 specific screening tests to find out whether your baby has a suspected problem with their eyes, heart, hips or, in boys, their testes which would benefit from early investigation and possible treatment.

The screening tests are carried out again between 6 and 8 weeks of age as some conditions do not develop or become apparent until then.

2. About the conditions

Each part of the physical examination is looking for different conditions.

About 2 or 3 in 10,000 babies have problems with their eyes that need treatment. The examination checks the appearance and movement of the eyes. The main reason for screening is to identify a condition called cataracts (a clouding of the transparent lens inside the eye). The examination cannot tell how well your baby can see.

Around 8 per 1,000 babies will have a heart problem or condition. This could range from a heart murmur to a problem needing specialist care or treatment. A murmur is a noise made by the blood as it passes through the heart. In almost all cases when a murmur is heard, the heart is normal. Murmurs are common in babies and this does not always mean there is a problem.

Babies can be born with hip joints that are not formed properly and if untreated this can lead to a limp and to joint problems. About 1 or 2 in 1,000 babies have hip problems that need treatment.

Baby boys are checked to make sure their testes are in the right place. It can take several months for testes to drop down (descend) into the scrotum. About 1 in 100 baby boys have problems with undescended testes that need treatment to reduce the risk of problems later in life, such as reduced fertility.

3. The screening test

A trained health professional will carry out a physical examination of your baby and ask you questions about your baby's general wellbeing.

Your baby will need to be undressed for part of the examination. During the examination the health professional will:

look into your baby's eyes focusing on how their eyes look and move

listen to their heart using a stethoscope to detect heart sounds

examine their hips to ensure the joints are working properly

examine baby boys to check if their testes are in the right place

These screening tests are carried out within 72 hours of birth and again when your baby is between 6 and 8 weeks of age.

4. Safety of the test

There are no risks associated with having this test.

5. Screening is your choice

The examination is intended to identify any of the problems early so that treatment can be started as soon as possible.

The general physical examination including this screening is therefore recommended for your baby.

6. Not having the test

You can decide to have your baby examined and screened for any or all of the conditions. If you have any concerns you should discuss them with your midwife and the health professional who offers the examination.

7. Possible results

Usually there will be nothing of concern found. If the health professional finds a possible problem, your baby will be referred for further assessment and tests if appropriate.

8. Getting my results

The health professional carrying out the examination will give you the results straight away. If a referral for further assessment is needed, this will also be discussed with you at the time of the examination.

The results will be recorded in your baby's case notes and personal child health record ('red book'). You will need to keep this record safe and make sure it is available whenever your baby sees a health professional.

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Eyes, heart, hips and testes (physical examination)

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening. This short video explains screening for eyes, heart, hips and testes in newborn babies. Newborn and infant physical examination video The newborn physical examination is recommended by the NHS.

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word ‘we’ refers to the NHS service that provides screening.

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This short video explains screening for 11 physical conditions in pregnancy.
20 week scan video
1. Purpose of screening

This scan takes place between 18 weeks and 20 weeks 6 days of pregnancy and is commonly called the 20-week scan. It is also sometimes referred to as the mid-pregnancy scan.

The scan looks for 11 different conditions in your baby and cannot find everything that might be wrong.

2. About these conditions

The scan will look in detail at your baby's bones, heart, brain, spinal cord, face, kidneys and abdomen.

In most cases the scan will show that your baby appears to be developing as expected but sometimes a condition is found or suspected. Some things can be seen more clearly than others. For example, some babies have a condition called open spina bifida, which affects the spinal cord.

Spina bifida can usually be seen clearly on a scan and of those babies who have this condition, around 9 out of 10 (90%) will be detected.

Some of the other conditions, such as heart defects, are more difficult to see. The scan will find about half (50%) of those babies who have heart defects.

Some of the conditions that can be seen on the scan will mean the baby may need treatment or surgery after it is born, for example cleft lip. In a small number of cases some very serious conditions are found. For example, the baby's brain, kidneys, internal organs or bones may not have developed properly. In some very serious rare cases, where no treatment is possible, the baby will die soon after it is born or during pregnancy.

There is more detailed information about the main conditions that are looked for during this scan on NHS.UK.

3. The screening test

Most scans are carried out by specially trained staff called sonographers.

In order for the sonographer to get good images of your baby, the scan is carried out in a dimly lit room.

You will be asked to lie on a couch.

You will then be asked to raise your top to your chest and lower your skirt or trousers to your hips.

Tissue paper will be tucked around your clothing to protect it from the ultrasound gel, which will then be put on your tummy.

The sonographer then passes a hand-held probe over your skin to examine the baby's body. The gel makes sure there is good contact between the probe and your skin.

Having the scan does not hurt but the sonographer may need to apply slight pressure to get the best views of your baby. This might be uncomfortable. A black and white picture of your baby will then be seen on the ultrasound screen. During the examination, sonographers need to keep the screen in a position that gives them a good view of your baby. The screen may be directly facing them or at an angle.

The appointment usually takes around 30 minutes.

You may need to have a full bladder when you come for the appointment. The doctor or midwife looking after you will let you know before you come. If you are not sure, you can contact them and ask.

You may like someone to come with you to the scan appointment. Most hospitals do not allow children to attend scans as childcare is not usually available. Please ask your hospital about this before your appointment.

Sometimes it is difficult to get good views of a baby. This does not mean there is anything to worry about. If this happens, you will be offered one further scan by 23 weeks of pregnancy. Very occasionally this second scan cannot be completed, for example because:

a baby is lying in an awkward position

you are above average weight

In this case you will not be offered another screening scan but you will offered an all over physical examination for your baby after birth.

4. Safety of the test

There are no known risks to your baby or the mother from having an ultrasound scan but it is important that you consider carefully whether or not to have the 20-week scan. The scan can provide information that may mean you have to make further, important decisions. For example, you may be offered further tests that have a risk of miscarriage.

5. Screening is your choice

You do not have to have the scan. Some people want to find out if their baby has one of the 11 conditions and some do not.

6. Not having the test

If you choose not to have the scan you can still have all other parts of your routine antenatal care.

7. Possible results

Most scans show that babies seem to be developing as expected, and none of the 11 conditions are found.

If one of the conditions is found or suspected, the sonographer may ask for a second opinion from another member of staff.

Scans cannot find all conditions. There is always a chance that a baby may be born with a health issue that scans could not have identified.

8. Further tests

You might be offered another test to find out for certain if your baby has one of the conditions.

If you are offered further tests, you will be given more information about them so that you can decide whether or not you want to have them. You will be able to discuss this with your midwife or consultant. If necessary, you will be referred to a specialist, possibly in another hospital.

9. Getting my results

The sonographer will be able to tell you the results of the scan at the time.

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening. This short video explains screening for 11 physical conditions in pregnancy. 20 week scan video This scan takes place between 18 weeks and 20 weeks 6 days of pregnancy and is commonly called the 20-week scan.

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Down's syndrome, Edwards's syndrome and Patau's syndrome video

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Down's syndrome, Edwards's syndrome and Patau's syndrome video

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Down's syndrome, Edwards' syndrome and Patau's syndrome (English)

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Down's syndrome, Edwards's syndrome and Patau's syndrome

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Down's syndrome, Edwards's syndrome and Patau's syndrome

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Click the link below the picture.

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This short animation explains screening for Down's syndrome, Edwards' syndrome and Patau's syndrome in pregnancy.
Down's syndrome, Edwards' syndrome and Patau's syndrome video
1. Purpose of screening

To find out how likely it is that your baby has Down's syndrome (also known as Trisomy 21 or T21), Edwards' syndrome (Trisomy 18/ T18) or Patau's syndrome (Trisomy 13/ T13).

This screening will be offered if you're having one baby or twins.

2. About these conditions

Inside the cells of our bodies there are tiny structures called chromosomes. These chromosomes carry the genes that determine how we develop. There are 23 pairs of chromosomes in each cell. Changes can occur when the sperm or egg cells are produced, which can lead to a baby having an extra chromosome.

Babies with Down's syndrome, Edwards' syndrome and Patau's syndrome are born to mothers of all ages but the chance of having a baby with one of these conditions increases as the age of the mother increases.

Down's syndrome (T21)

Down's syndrome is caused by an extra copy of chromosome 21 in all or some cells of the body.

A person with Down's syndrome will have some level of learning disability. This means they will find it harder than most people to understand and to learn new things. They may have communication challenges and difficulty managing some everyday tasks. People with Down's syndrome have distinctive facial features but they do not all look the same.

A child with Down's syndrome

Most children with Down's syndrome attend mainstream schools but will require additional support.

Some health problems are more common in people with Down's syndrome. These include heart conditions and problems with hearing and vision. Many health problems can be treated but unfortunately around 5% of babies will not live past their first birthday.

For babies without serious health problems survival is similar to that of other children and most people with Down's syndrome will live into their 60s or longer.

People with Down's syndrome can have a good quality of life and most say they enjoy their lives. With support, many more people with Down's syndrome are able to get jobs, have relationships and live semi-independently in adulthood.

Edwards' syndrome (T18) and Patau's syndrome (T13)

Babies with Edwards' syndrome have an extra copy of chromosome 18 in all or some cells. Babies with Patau's syndrome have an extra copy of chromosome 13 in all or some cells.

Sadly the survival rates are low and of those babies born alive only around 13% with Edwards' syndrome and 11% with Patau's syndrome will live past their first birthday. Some babies may survive to adulthood but this is rare.

All babies born with Edwards' syndrome and Patau's syndrome will have a learning disability and a wide range of physical challenges, which can be extremely serious. They may have problems with their heart, respiratory system, kidneys and digestive system.

Around half of babies with Patau's syndrome will also have a cleft lip and palate. Babies with Edwards' syndrome and Patau's syndrome will have a low birthweight.

Despite their difficulties, children can slowly make progress in their development. Older children with either condition would need to attend a specialist school.

3. The screening test

A screening test for these conditions, called the 'combined test', is available between 10 and 14 weeks of pregnancy.

If you choose to have the combined test, a blood sample is taken from your arm. At the dating ultrasound scan the fluid at the back of your baby's neck is measured (known as the nuchal translucency). The information from these 2 tests is combined to work out the chance of your baby having Down's syndrome, Edwards' syndrome or Patau's syndrome.

If you are too far on in your pregnancy to have the combined test for Down's syndrome, you will be offered a blood test called the quadruple test between 14 and 20 weeks of pregnancy. The quadruple test is not quite as accurate as the combined test. If you are too far on in your pregnancy to have the combined test for Edwards' syndrome and Patau's syndrome, you will be offered a 20-week scan.

4. Safety of the test

The screening test cannot harm you or your baby but it is important to consider carefully whether to have this test or not. This test cannot tell you if your baby definitely has Down's syndrome, Edwards' syndrome or Patau's syndrome or not. The screening test can provide information that may lead to further important decisions. For example, you may be offered diagnostic tests that have a risk of miscarriage.

5. Screening is your choice

You do not have to have the screening test. Some people want to find out if their baby has Down's syndrome, Edwards' syndrome or Patau's syndrome and some do not.

You can choose to have screening for:

all 3 conditions

Down's syndrome only

Edwards' syndrome and Patau's syndrome only

none of the conditions

6. Not having the test

If you choose not to have the screening test for Down's syndrome, Edwards' syndrome and Patau's syndrome, the rest of your antenatal care will be unaffected.

Any scan during your pregnancy may pick up physical problems with your baby which could be related to these conditions. You will always be told if anything unexpected is found during a scan.

7. Possible results

You will be given 2 results: one for Down's syndrome and a joint one for Edwards' syndrome and Patau's syndrome.

If the screening test shows that the chance of your baby having Down's syndrome, Edwards' syndrome or Patau's syndrome is lower than 1 in 150 this is called a 'lower-chance' result. Over 95 out of 100 (95%) screening test results will be lower chance.

A lower-chance result does not mean that there is no chance at all of your baby having Down's syndrome, Edwards' syndrome or Patau's syndrome.

If the screening test shows that the chance of your baby having Down's syndrome, Edwards' syndrome or Patau's syndrome is higher than 1 in 150 - that is from 1 in 2 to 1 in 150 - this is called a 'higher-chance' result. Fewer than 1 in 20 (5%) of screening test results will be higher chance.

A higher-chance result does not mean your baby definitely has Down's syndrome, Edwards' syndrome or Patau's syndrome.

8. Further tests

If you have a lower-chance result, you will not be offered a further test.

If you have a higher-chance result, you will be offered a diagnostic test to find out for certain whether or not your baby has Down's syndrome, Edwards' syndrome or Patau's syndrome.

Diagnostic tests for Down's syndrome will also look at chromosomes 18 and 13, so will also tell you whether or not your baby has Edwards' syndrome or Patau's syndrome. Similarly, diagnostic tests for Edwards' syndrome and Patau's syndrome will also look at chromosome 21 for Down's syndrome.

1 out of 200 women (0.5%) who have a diagnostic test will miscarry as a result of the test. It is up to you whether or not to have the further test.

There are 2 types of diagnostic test.

Chorionic villus sampling

Chorionic villus sampling ( CVS) is usually done from 11 to 14 weeks of pregnancy. A fine needle, usually put through the mother's abdomen, is used to take a tiny sample of tissue from the placenta. The cells from the tissue are then tested for Down's syndrome, Edwards' syndrome and Patau's syndrome.

Amniocentesis

Amniocentesis is usually done after 15 weeks of pregnancy. A fine needle is passed through the mother's abdomen into the uterus to collect a small sample of the fluid surrounding the baby. The fluid contains cells from the baby, which are tested for Down's syndrome, Edwards' syndrome and Patau's syndrome.

A small number of women who have the diagnostic test will find out their baby has one of the conditions. They then have 2 options. Some women decide to continue with the pregnancy and prepare for their child with the condition; others decide they do not want to continue with the pregnancy and have a termination.

If you are faced with this choice you will get support to help you make a decision.

9. Getting my results

If your screening test shows a lower-chance result, you should be told within 2 weeks of the test being taken.

If your screening test shows a higher-chance result, you should be told within 3 working days of the blood test result being available. You will be offered an appointment to discuss the test results and the further options you will have.

10. About this leaflet

With grateful thanks to the Down's Syndrome Association for permission to use the photograph above.

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Down's syndrome, Edwards' syndrome and Patau's syndrome

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Public Health England (PHE) created this information on behalf of the NHS. In this information, the word 'we' refers to the NHS service that provides screening.

This short animation explains screening for sickle cell and thalassaemia in pregnancy.
Sickle cell and thalassaemia video
1. Purpose of screening

To find out if you are a carrier of the sickle cell or thalassaemia gene and therefore likely to pass it on to your baby.

2. About these conditions

Sickle cell disease ( SCD) and thalassaemia major are serious, inherited blood diseases. They affect haemoglobin, a part of the blood that carries oxygen around the body. People who have these conditions will need specialist care throughout their lives.

People with SCD can have attacks of very severe pain, get serious, life-threatening infections and are usually anaemic (their bodies have difficulty carrying oxygen). Babies with SCD can receive early treatment, including immunisations and antibiotics, which, along with support from their parents, will help prevent serious illness and allow them to live a healthier life.

People with thalassaemia major are very anaemic and need a blood transfusion every 3 to 5 weeks, and injections and medicines throughout their lives.

There are also other, less common, less serious haemoglobin diseases that may be found. SCD and thalassaemia are inherited diseases that are passed on from parents to children through unusual haemoglobin genes. Genes are the codes in our bodies for things such as eye colour and blood group. Genes work in pairs. For everything that we inherit we get one gene from our mother and one from our father.

People only have SCD or thalassaemia if they inherit 2 unusual haemoglobin genes - one from their mother and one from their father. People who inherit just one unusual gene are known as 'carriers' (some people call this having a 'trait'). Carriers are healthy and do not have the disease, although they can experience some problems in situations where their bodies might not get enough oxygen, for example, having an anaesthetic.

When both parents are carriers the baby has:

a 1 in 4 (25%) chance of not having the condition

a 1 in 4 (25%) chance of inheriting both unusual haemoglobin genes and having the condition

a 2 in 4 (50%) chance of inheriting 1 unusual haemoglobin gene and being a carrier

Diagram showing the chances of a baby inheriting a haemoglobin condition when both biological parents are carriers

Anyone can be a carrier of a haemoglobin disease. However, it is more common among people whose ancestors come from Africa, the Caribbean, the Mediterranean, India, Pakistan, South and South-East Asia and the Middle East.

3. The screening test

Screening in pregnancy for SCD and thalassaemia involves having a blood test. It is best to have the test before you are 10 weeks pregnant.

All pregnant women are offered a test for thalassaemia but not all women are automatically offered a test for SCD. The screening offered depends on where you live.

In areas where haemoglobin diseases are more common, you will be offered a blood test for SCD. In areas where haemoglobin diseases are less common, a questionnaire is used to identify the family origins of the baby's mother and father.

If the questionnaire shows either parent may be a sickle cell carrier, a blood test is offered to the woman.

You can ask to have the blood test even if your family origins do not suggest your baby has a high chance of a haemoglobin disease.

4. Safety of the test

The screening test cannot harm you or your baby but it is important to consider carefully whether to have this test or not. The screening test can provide information that may mean you have to make further important decisions. For example, you may be offered further tests that have a risk of miscarriage.

5. Screening is your choice

You do not need to have the screening test. Some people want to find out if their baby has SCD or thalassaemia and some do not.

6. Not having the test

If you choose not to have the screening test in pregnancy, your baby can have newborn blood spot screening for SCD at 5 days of age.

7. Possible results

The test will tell you if you are a carrier or not, or whether you have the disease yourself.

8. Further tests

If you are a carrier of a haemoglobin disease, your baby's father will be offered a blood test. If your baby's father is also a carrier you will be offered diagnostic tests to find out if your baby is affected.

If your baby's father is not available and you have been identified as a carrier, you will be offered the diagnostic test.

1 in every 200 women (0.5%) who have a diagnostic test will miscarry as a result of the test. It is up to you whether or not to have the further test. There are 2 types of diagnostic test.

CVS (chorionic villus sampling) is usually done from 11 to 14 weeks of pregnancy. A fine needle, usually put through the mother's abdomen, is used to take a tiny sample of tissue from the placenta. The cells from the tissue can be tested for SCD or thalassaemia.

Amniocentesis is usually done after 15 weeks of pregnancy. A fine needle is passed through the mother's abdomen into the uterus to collect a small sample of the fluid surrounding the baby. The fluid contains some of the baby's cells, which can be tested for SCD or thalassaemia.

9. Possible results of diagnostic tests

If the result shows that your baby has SCD or thalassaemia then you will be offered an appointment with a health professional. You will be able to get information about the condition your baby has inherited and talk through your choices.

Some conditions are more serious than others. Some women decide to continue with the pregnancy. Others decide they do not want to continue with the pregnancy and have a termination.

If you are faced with this choice you will get further information about the condition and support from health care professionals to help you make a decision. Information is also available from support organisations.

If the test shows that you are a carrier, there is a chance that other members of your family could be carriers too. You may want to encourage them to ask for a test, especially if they are planning to have a baby.

10. Getting results of diagnostic tests

The person doing the test will discuss the arrangements for providing your result.

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Screening your baby's body - easy read guide

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Screening tests for you and your baby video

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Screening tests for you and your baby (STFYAYB)

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