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Sickle Cell Disease

The haemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a sickle.

Screening technique:
Some methods for detecting sickle cell are the full count of blood cells, Haemoglobin electrophoresis, and high-performance liquid chromatography (HPLC)

Effects on foetus
Miscarriage, when a baby dies in the womb before 20 weeks of pregnancy

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Sophie
Screening technique:
A blood test is usually able to check for sickle cell disease within the foetus/mother. It is preferable for the pregnant woman to have this blood test before they are 10 weeks pregnant.

Type of condition:
Sickle cell disease is an inherited blood disease that is able to be identified by "flawed haemoglobin" (protein found within red blood cells).

Impacts to the foetus/baby:
If sickle cell disease is detected within the foetus it means that there are lower amounts of oxygen going to the developing baby -- this then resulting in a negative impact on the baby's development; by slowing it down.

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Tiya

Spina bifida: birth defect that occurs when the spine and spinal cord do not form properly

Type of Condition:
Neural tube defect (NTD)

Screening technique:
Can be screened with maternal blood tests, ultrasound, amniocentesis

Results on baby
- extra fluid in the brain
- paralysis
- intellectual and developmental disabilities
- meningitis
- muscle weakness and joint pain

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Screening Techniques:
Tested for 24-48 hours after birth. A dried blood sample from the babie's heel is taken and the levels of CK-IMM are tested.
Type of condition:
Genetic Abnormality caused by mutation of the dystrophin gene, usually only found in boys rather than girls.
Impacts:
Degenerative disease in which the muscles slowly degenerate and eventually the heart and skeletal muscles, which result in death after around 27 years.

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Isabelle

Screening technique
ultrasounds and amniocentesis

Type of condition
it is a neural tube defect
- can happen anywhere along the spinal cord if the neural tube does not close all the way

Impacts to the foetus
the spinal cord doesnt develop properly and there is damage to the spine and the nerves
- causes physical and intellectual disabilities

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- Condition where the tissue of the upper lip does not completely join before birth. Can range from a small slit to a large opening going from the roof of the mouth to the nose

Screening Technique:
- Ultrasound can detect the presence of a cleft lip/palate

Type of Condition:
- Common birth defect

Impacts to foetus/baby:
- Upper lip is not completely joined, can either be unilateral or bilateral (meaning there is two places where tissues are not joined).
- Is not life-threatening

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max

Down Syndrome is also referred to as trisomy 21

Screening Technique
Diagnostic tests (such as chorionic villus sampling or amniocentesis) will show whether a baby actually has Down syndrome.

Type of Condition:
Result of an extra present chromosome. In pair 21 of 23 chromosomes, a third chromosome becomes present, which results in this in this condition

Impacts on foetus/baby
- delays in the child's mental and physical development
- increased risk for health problems.
- Increases the risk of Alzheimer's
- Key facial features, such as flat facial features. small head and ears and a short neck.

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Gemma

Also referred to as trisomy 21, down syndrome is a disorder which causes an extra copy of chromosome 21.

Screening technique:
- chorionic villus sampling
- amniocentesis

This results in:
- various degrees of intellectual ability in offspring
- physical abnormalities
- different characteristics in facial appearance
- developmental delays
- can result in other medical abnormalities e.g. heart disorders

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Aimee
Patau syndrome also referred to as trisomy 13

Extra copy of chromosome 13

Screening test:

Performed between 10 to 14 weeks of gestation

Chorionic villus sampling

Amniocentesis

Impacts to foetus/baby:

Individuals with intellectual disability

Small head

Extra fingers and toes

Cleft palate

Malformations or ears/eye

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by Miss Cuthbert
Screening Technique: Blood test of mothers blood from 10 weeks onwards
Type of condition: chromosomal abnormality
- results when one of the X chromosomes (sex chromosomes) is missing or partially missing
Impacts to foetus/baby:
- heart defects
- smaller baby weight & decreased physical development
- reduced functioning to offsprings own reproductive organs

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9 Months In The Womb: A Remarkable Look At Fetal Development Through Ultrasound By PregnancyChat.com - YouTube

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9 Months In The Womb: A Remarkable Look At Fetal Development Through Ultrasound By PregnancyChat.com