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Sterility - The COMPLETE inability to conceive or produce offspring

Infertility - Difficulty in conceiving but it’s possible

If one of the parents is infertile or sterile, they can use other methods to conceive:

Donor eggs or sperm (using gametes from donors)

Surrogacy (having another woman carry and deliver the baby)

Adoption

In Vitro Fertilization (combining an egg and sperm in a laboratory)

Artificial Insemination (sperm are collected and concentrated before being put in the vagina)

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After 9 months of gestation, progesterone levels decrease.

Levels of hormones relaxin, oxytocin, and prostaglandins increase.

Hormones Involved in Parturition

Relaxin: Produced by the placenta prior to labor, causes the relaxation of the pelvic ligaments and the widening of the birth canal.

Oxytocin & Prostaglandin: cause uterine contractions

Stages of Delivery

1. Dilation Stage

Uterine contractions and oxytocin causes the cervix to dilate/open

During this stage, the amniotic sac breaks, and amniotic fluid is released through the vagina

2. Expulsion Stage

Forceful contractions push the baby through the cervix to the birth canal (vagina)

(Positive Feedback Loop)

Oxytocin is released by the pituitary gland in response to the baby pushing down on the mother's cervix

Oxytocin causes the uterus to contract, pushing the baby further down towards the cervix

The baby pushing on the cervix signals the pituitary gland to increase oxytocin release, making the uterus squeeze harder

The head rotates, making it easier for the body to pass through

Positive feedback loop ends after birth (baby no longer pushing on the cervix)

3. Placenta Stage

The placenta and umbilical cord are expelled from the uterus

called afterbirth

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Best time to attempt to conceive:

A woman is most fertile during the fertile window (usually the five days before ovulation and the day after ovulation.) Ovulation can be detected by monitoring the woman’s body temperature as it increases during this time and the texture of cervical mucus changes. (Becomes more slippery and clear which helps increase the chance of conception)

Conception: (Week 0)

When a male ejaculates into the vagina, millions of sperm are released, but only a few reach the cervix, uterus, and eventually, the fallopian tubes. (This is where fertilization takes place). Pregnancy does not begin right away; it may take up to 5 days after intercourse for the sperm and egg to unite. When the two gametes first join, the product is called a zygote. It contains all the genetic DNA to become a baby. Half of the DNA came from the mother and the other half from the father.

The egg always carries an X chromosome while the sperm carries either an X or Y chromosome. This determines the gender of the baby (XX = Female)(XY = Male)

(Week 1)

After a few days, as the zygote moves down to the uterus from the fallopian tube, cleavage happens. This is the process of a zygote going through multiple mitotic divisions that break down the large volume of egg cytoplasm into several smaller, nucleated cells.

3-4 days of division turns the zygote into a morula (a solid ball of cells)

Implantation (Week 2)

As it continues to travel to the uterus and more cell divisions, the morula becomes a blastocyst. It’s made up of an inner group of cells with an outer shell. When it reaches the uterus, it attaches itself to the uterine lining where it will stay attached for the rest of the pregnancy. (Implantation) Wherever the blastocyst attaches will be where the baby receives its nutrients from the mother’s blood.

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“Fetal Development: Medlineplus Medical Encyclopedia.” Edited by LaQuita Martinez, MedlinePlus, U.S. National Library of Medicine, 23 Aug. 2023, medlineplus.gov/ency/article/002398.htm#:~:text=The%20embryo’s%20cells%20multiply%20and,external%20features%20begin%20to%20form.

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Learn how your baby is conceived and how your baby develops inside the mother’s womb.

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This chart shows the size of the growing embryo/fetus throughout the weeks.

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The first couple of weeks after conception are called the germinal stage. The period from weeks three to eight is known as the embryonic period, and the time from week nine until birth is referred to as the fetal period.

Week three is the start of the embryonic period. This is when the baby’s major systems and structures start to form.

Gastrulation is what happens when an embryo transforms from a one-dimensional layer of epithelial cells (cells that line surfaces and cavities in the body) and becomes a multilayered structure.

Gastrulation develops into a three tissue-layered organism made of the endoderm (Inner primary germ layer). It develops into the digestive tract, respiratory tract, and other internal organs. The mesoderm (Middle primary germ layer), it develops into muscle cells, connective tissue, heart, internal reproductive organs. Finally, the ectoderm (Outer primary germ layer). It develops into the nervous system, epidermal skin, hair and nails.

Differentiation and Morphogenesis

Gastrulation marks the start of morphogenesis (Week 3-8). This is the development of the baby’s overall shape and the arrangement of organs and tissues. (Morphogenesis depends on the ability of early embryonic cells to become different types of cells; differentiation)

The embryo’s cells multiply and begin to take on specific functions of cells. Blood cells, nerve cells, and kidney cells, muscle cells form. This process is called differentiation. (Week 3 and beyond)

5-8 Weeks:

The embryo is now recognizable as a developing baby

The baby’s head is much larger than the rest of its body and its elbows and hands appear but the fingers are still fused together. The eyes are a little visible.

9-12 Weeks:

The embryo is now called a fetus. The fetus already has a human appearance. The nose, mouth and eyes (eyelids closed) are identifiable.

All major organs are formed and the body is taking shape

The fingers are separated now and toes start to form.

Baby starts to move around.

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Teratogen: something known to cause abnormalities in a fetus after prenatal exposure. (Alcohol, drugs…)

Fetal Alcohol Syndrome (FAS) is a condition caused by alcohol exposure during pregnancy.

Drinking while pregnant can cause miscarriages, premature birth.

Specific facial traits, like a smooth area between the nose and upper lip, can develop because of alcohol exposure.

While FAS is entirely preventable through abstinence from alcohol during pregnancy, there is no cure.

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This chart shows the size of the growing fetus throughout the weeks.

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Week 13-16:

The baby’s sex is becoming apparent (Parents are able to find out the gender of the fetus during this time)

Baby begins to make urine

The scalp is forming

The baby’s eyes start to move

Baby is growing rapidly

Week 17-19:

Toenails begin to develop

Baby is becoming more active in the amniotic sac

Baby’s ears stand out in the side of their head and may begin to hear

Week 19: Growth slows down

A greasy coating develops on baby called the vernix caseosa to avoid baby from getting abrasions

Week 20-23

Reached the halfway point in pregnancy

Mother may be able to feel the baby’s movement

Baby is regularly sleeping and waking, mother may wake the baby up by noise or movement

Fetus is able to suck their thumb

Hair becomes visible

Fingerprints and footprints form

Week 24-27:

Baby’s skin is red/pink due to visible blood in the capillaries

The baby is able to respond to familiar sounds

Week 27: Second trimester ends

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Breast development is stimulated from the onset of puberty by estrogen and progesterone

During pregnancy, elevated levels of estrogen and progesterone prepare the breast for milk production

Hormones Involved in Lactation

Prolactin: pituitary hormone that stimulates and maintains milk production

Oxytocin: Pituitary hormone that causes muscle contractions in the nipples to expel the milk from breastfeeding

Process of Lactation

1. Mammogenesis (Breast Development)

During puberty and pregnancy, the mammary glands develop and grow during this stage.

During Pregnancy: Human placental lactogen, progesterone, and estrogen are among the hormones that stimulate the development of milk ducts and alveoli, which are cells that produce milk.

The breasts increase in size as the glands prepare for milk production.

2. Lactogenesis (Initiation of Milk Production)

Lactogenesis I: This lasts until a few days after delivery and starts in the second trimester. The baby's first food during this time is colostrum, a nutrient-rich substance produced by the breasts.

Lactogenesis II: This starts between 2-4 days postpartum when milk production starts to rise sharply. It is brought on by an increase in prolactin and a decrease in progesterone following placenta delivery. Colostrum turns into mature milk.

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Chorion (It encloses the other extra-embryonic membranes)

Amnion (A transparent sac that encloses the embryo and is filled with a clear fluid (Amniotic fluid) providing cushion and a stable environment, allows the baby to move and prevents limbs from sticking to the body)

Yolk sac (Does NOT serve any nutritive function. It contributes to the formation of the digestive tract and makes the first blood cells and the future egg or sperm cells)

Allantois (Makes the foundation of the umbilical cord and degenerates overtime. The rest becomes part of the bladder)

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This chart shows the size of the growing fetus throughout the weeks.

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Fetal Development

28-32 Weeks

The baby's eyes open and close, their brain develops quickly, and their bones are fully formed but still soft.

33-36 Weeks

As the baby's lungs develop, the head usually tilts downward.

37-40 Weeks

After birth, the baby is considered full-term when its organs are fully formed, its skin softens out, and an increase in fat regulates its body temperature.

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1. Infertility Reversal: Enhancing Chances

ways to allow fertility to occur in people who are having difficulty conceiving naturally

Many ways include:

Hormone therapy- often to replace low levels of hormones (Testosterone, estrogen, progesterone, FSH, LSH) that are causing infertility issues, or given to females to increase their chances of ovulating

Intrauterine insemination- semen from a male placed inside a female's uterus

Surgery- to repair any physical problem resulting in infertility such as blocked tubes (Scar tissue, deformity)

2. In-vitro fertilization (IVF)

An egg is fertilized by sperm outside the body in a laboratory (Test tube babies)

Steps:

1. FSH + LH into female to develop eggs

2. Remove the egg, place it in a test tube, and add sperm from the male ejaculate

3. Estrogen + Progesterone in female to develop endometrium

4. Add blastocyte to implant into uterus

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Oestrogen

It helps with uterus and fetal growth, increasing during pregnancy and reaching its maximum in the third trimester.

Stimulates the growth of the breasts' milk ducts to get them ready for breastfeeding.

Progesterone

It keeps the lining of the uterus intact and stops contractions until labor is about to begin.

Strengthens the cervix's mucus which serves as an infection-prevention barrier.

Relaxin

Makes the pelvic ligaments more easier for labor.

Helps the baby pass through during birth by softening and enlarging the cervix.

Oxytocin

Essential for attachment after delivery and starting labor.

It stimulates contractions in the uterus during labor and helps the uterus return to its pre-pregnancy size after delivery.

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3. Conception Control

Ways to prevent conception:

Abstinence- no sex

Surgical sterilization- tubal ligation (cut oviducts) or vasectomy (cut vas deferens)

Hormone treatment- contraceptive tech works by changing the balance of reproduction hormones in a woman's body

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Brunning, A. (2019a). Six key pregnancy hormones and their roles. Compound Interest: Six key pregnancy hormones and their roles. Andy Brunning. Retrieved October 17, 2024, from https://www.compoundchem.com/2019/02/28/pregnancy-hormones/.

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Click to enlarge

Pregnancy is a rollercoaster of shifting hormone levels which can have numerous effects. This graphic looks at six key hormones during pregnancy, their roles in the development of the baby, and other effects.

Human chorionic gonadotropin (hCG)
hCG is an important hormone in early pregnancy. It's produced by the placenta after implantation, and supports the function of the corpus luteum. The corpus luteum is a temporary structure in the ovaries which produces other key hormones during early pregnancy.

hCG is also the hormone detected by pregnancy tests. Its concentration increases from conception and peaks 8-11 weeks after. For the first few days after conception its levels are too low to detect with pregnancy tests, but after implantation its levels double every 48 hours. There's more on hCG and pregnancy tests in this previous graphic.

Progesterone
During the early weeks of pregnancy, the corpus luteum produces progesterone. After 8-12 weeks, the placenta takes over.
Progesterone stimulates growth of the blood vessels that supply the womb lining. It also stimulates the lining to release nutrients, providing nourishment for the early embryo. Additionally, progesterone inhibits contraction of the smooth muscle of the uterus so that it grows as the baby does.

Progesterone levels continue to rise as the pregnancy progresses. Along with oestrogen, it promotes the growth of breast tissue and milk duct development. Progesterone prevents lactations during pregnancy, which only starts when levels drop after birth. This hormone also plays an important role in preparation for birth: it strengthens the pelvic wall muscles required for labour.

Noticing increased hair growth during pregnancy? That's also due to progesterone!

Oestrogen
As with progesterone, the corpus luteum produces oestrogen in the early stages of pregnancy before the placenta takes over. Oestrogen is actually a collective group of similar compounds: oestrone, oestradiol, and oestriol.

Oestrogen helps the uterus grow and maintains its lining. It supports foetal development, including the development of organs and bodily systems. It also activates and regulates the production of other important pregnancy hormones.

Prolactin
Prolactin is the main hormone needed to trigger the production of breast milk. It enlarges the mammary glands to prepare for this (though as previously noted progesterone levels prevent lactation until the baby is born).

Prolactin has other roles unrelated to milk production. It contributes to the development of the foetal lungs and brain, and also to the mother's immune system tolerating the foetus.

Relaxin
Relaxin levels are highest during the first trimester of pregnancy, but it is present throughout. It has several roles, including prohibiting contraction of the uterine muscles to prevent premature birth.

Relaxin's name gives a clue to its more important roles. It relaxes blood vessels, increasing blood flow to the placenta and kidneys. This helps the mother's body cope with the increased demand for oxygen and nutrients from the developing baby.

Relaxin also helps the mother's body prepare for birth. It relaxes joints in the pelvis and softens and widens the cervix to make delivery of the baby easier.

Oxytocin
Oxytocin only appears in significant amounts towards the end of pregnancy, though it is present in lower amounts before this. Its levels rise when labour starts, triggering contractions.

If labour doesn't start naturally, oxytocin (or synthetic equivalents) can be used to induce it.

The graphic in this article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. See the site's content usage guidelines.
Enjoyed this post? Support Compound Interest's graphics on Patreon!
References & Further Reading

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Six key pregnancy hormones and their roles

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Pregnancy is a rollercoaster of shifting hormone levels which can have numerous effects. This graphic looks at six key hormones during pregnancy, their roles in the development of the baby, and other effects. Human chorionic gonadotropin (hCG) hCG is an important hormone in early pregnancy.

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Hormonal Changes in the First Trimester 

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Hormonal Changes in the First Trimester 

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Once the blastocyst attaches to the uterine lining, it begins to make hCG. This hormone is what signals the corpus luteum to keep producing progesterone and estrogen to stop menstruation from happening. This hormone may be the reason why nausea and vomitting happens.

High levels of progesterone are produced to thicken the uterine lining and creates a supportive environment for the developing embryo

Estrogen rises gradually, helping to prepare the body for the changes needed during pregnancy.

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3. Galactopoiesis (Maintenance of Milk Production)

This stage refers to the ongoing production of milk, which continues as long as the baby is breastfeeding.

The supply is regulated by demand; more frequent feeding stimulates continued production

(Positive feedback loop)

The baby suckling causes oxytocin and prolactin release from the pituitary gland

causes milk production and release for breastfeeding

Baby breastfeeding stimulates more hormone release

Positive feedback loop ends when nursing stops.

4. Involution (Cessation of Milk Production)

This stage occurs when nursing stops.

The production of milk is gradually reduced by the mammary glands, and the breast tissue reverts to its pre-pregnancy condition.

(A decrease in milk demand usually triggers involution, and it may take weeks for milk production to fully stop)

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First Trimester (Weeks 1-12)

Genetic Cause: Down Syndrome happens when an extra chromosome 21 is present at conception.

Higher Risk of Miscarriage: There's an increased chance of miscarriage in early pregnancy.

Screening Tests: Tests like blood tests and ultrasounds can suggest if the baby might have Down Syndrome.

Non-Invasive Testing (NIPT): This blood test from week 10 checks fetal DNA for Down Syndrome risk.

Second Trimester (Weeks 13-27)

Confirmation Tests: Chorionic Villus Sampling (CVS) can confirm Down Syndrome if screening tests suggest a risk.

Detailed Ultrasound: Around 18-20 weeks, an ultrasound may show signs like heart defects or certain physical traits linked to Down Syndrome.

Growth Monitoring: The baby may grow more slowly than expected, so growth is closely monitored.

Third Trimester (Weeks 28-40)

Frequent Check-Ups: Doctors monitor the baby's growth and heart closely since complications can be more likely.

Risk of Early Birth: There's a higher chance of preterm labor.

Planning for Delivery: Doctors may plan labor at a hospital with specialized care if the baby has heart or growth problems.

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“The First Trimester.” Johns Hopkins Medicine, 20 June 2024, www.hopkinsmedicine.org/health/wellness-and-prevention/the-first-trimester.

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Fertility, Pregnancy and Childbirth Pregnancy Labor and Delivery Fertility Procedures Staying Healthy During Pregnancy

What You Need to Know

Your First Prenatal Visit

Your first prenatal visit is the most thorough. A complete medical history is taken, a physical exam is done, and certain tests and procedures are performed to assess the health of both you and your unborn baby. Your first prenatal visit may include:

Personal medical history. This may include taking record of any of the following:

Maternal and paternal family medical history, including illnesses, intellectual or developmental disabilities, and genetic disorders, like sickle cell disease or Tay-Sachs disease

Personal gynecological and obstetrical history, including past pregnancies (stillbirths, miscarriages, deliveries, terminations) and menstrual history (length and duration of menstrual periods)

Education, including a discussion regarding the importance of proper nutrition and expected weight gain in pregnancy; regular exercise; the avoidance of alcohol, drugs and tobacco during pregnancy; and a discussion of any concerns about domestic violence

Pelvic exam. This exam may be done for one or all of the following reasons:

To note the size and position of the uterus

To determine the age of the fetus

To check the pelvic bone size and structure

To perform a Pap test (also called Pap smear) to find the presence of abnormal cells

Lab tests, including the following:

Blood screening tests. These are done to find diseases that could have an effect on the pregnancy. One example is rubella, an infectious disease that is also called German measles.

Genetic tests. These are done to find inherited diseases, like sickle cell disease and Tay-Sachs disease.

Other screening tests. These are performed to find infectious diseases, like sexually transmitted diseases and urinary tract infections.

The first prenatal visit is also an opportunity to ask any questions or discuss any concerns that you may have about your pregnancy.

The First Trimester: What to Expect

A healthy first trimester is crucial to the normal development of the fetus. You may not be showing much on the outside yet, but on the inside, all of the major body organs and systems of the fetus are forming.

As the embryo implants itself into the uterine wall, several developments take place, including the formation of the:

Amniotic sac. A sac filled with amniotic fluid, called the amniotic sac, surrounds the fetus throughout the pregnancy. The amniotic fluid is liquid made by the fetus and the amnion (the membrane that covers the fetal side of the placenta) that protects the fetus from injury. It also helps to regulate the temperature of the fetus.

Placenta. The placenta is an organ shaped like a flat cake that only grows during pregnancy. It attaches to the uterine wall with tiny projections called villi. Fetal blood vessels grow from the umbilical cord into these villi, exchanging nourishment and waste products with your blood. The fetal blood vessels are separated from your blood supply by a thin membrane.

Umbilical cord. The umbilical cord is a ropelike cord connecting the fetus to the placenta. The umbilical cord contains two arteries and a vein, which carry oxygen and nutrients to the fetus and waste products away from the fetus.

It is during this first trimester that the fetus is most susceptible to damage from substances, like alcohol, drugs and certain medicines, and illnesses, like rubella (German measles).

During the first trimester, your body and your baby's body are changing rapidly.

Johns Hopkins Hospital Designated as Baby-Friendly

The First Trimester: Changes to Your Body

During pregnancy, many changes will happen to your body to help nourish and protect your baby. Women experience these changes differently. Some symptoms of pregnancy continue for several weeks or months. Others are only experienced for a short time. Some women experience many symptoms, and other women experience only a few or none at all. The following is a list of changes and symptoms that may happen during the first trimester:

The mammary glands enlarge, causing the breasts to swell and become tender in preparation for breast-feeding. This is due to an increased amount of the hormones estrogen and progesterone. A supportive bra should be worn.

Your areolas (the pigmented areas around each breast's nipple) will enlarge and darken. They may become covered with small, white bumps called Montgomery's tubercles (enlarged sweat glands).

Veins become more noticeable on the surface of your breasts.

The uterus is growing and begins to press on your bladder. This causes you to need to urinate more often.

Partly due to surges in hormones, you may experience mood swings similar to premenstrual syndrome, a condition experienced by some women that is characterized by mood swings, irritability and other physical symptoms that happen shortly before each menstrual period.

Increased levels of hormones to sustain the pregnancy may cause "morning sickness," which causes nausea and sometimes vomiting. However, morning sickness does not necessarily happen just in the morning and rarely interferes with proper nutrition for the mother and her fetus.

Constipation may happen as the growing uterus presses on the rectum and intestines.

The muscular contractions in the intestines, which help to move food through the digestive tract, are slowed due to high levels of progesterone. This may, in turn, cause heartburn, indigestion, constipation and gas.

Clothes may feel tighter around the breasts and waist, as the size of the stomach begins to increase to accommodate the growing fetus.

You may experience extreme tiredness due to the physical and emotional demands of pregnancy.

Cardiac volume increases by about 40 to 50 percent from the beginning to the end of the pregnancy. This causes an increased cardiac output. An increased cardiac output may cause an increased pulse rate during pregnancy. The increase in blood volume is needed for extra blood flow to the uterus.

The First Trimester: Fetal Development

The most dramatic changes and development happen during the first trimester. During the first eight weeks, a fetus is called an embryo. The embryo develops rapidly and by the end of the first trimester, it becomes a fetus that is fully formed, weighing approximately 0.5 to 1 ounce and measuring, on average, 3 to 4 inches in length.

First Trimester Fetal Growth and Development Benchmarks

The chart below provides benchmarks for most normal pregnancies. However, each fetus develops differently.

Timing

Development Benchmark

By the end of four weeks

All major systems and organs begin to form.

The embryo looks like a tadpole.

The neural tube (which becomes the brain and spinal cord), the digestive system, and the heart and circulatory system begin to form.

The beginnings of the eyes and ears are developing.

Tiny limb buds appear, which will develop into arms and legs.

The heart is beating.

By the end of eight weeks

All major body systems continue to develop and function, including the circulatory, nervous, digestive, and urinary systems.

The embryo is taking on a human shape, although the head is larger in proportion to the rest of the body.

The mouth is developing tooth buds, which will become baby teeth.

The eyes, nose, mouth, and ears are becoming more distinct.

The arms and legs can be easily seen.

The fingers and toes are still webbed, but can be clearly distinguished.

The main organs continue to develop and you can hear the baby's heartbeat using an instrument called a Doppler.

The bones begin to develop and the nose and jaws are rapidly developing.

The embryo is in constant motion but cannot be felt by the mother.

From embryo to fetus

After 8 weeks, the embryo is now referred to as a fetus, which means offspring.

Although the fetus is only 1 to 1.5 inches long at this point, all major organs and systems have been formed.

During weeks nine to 12

The external genital organs are developed.

Fingernails and toenails appear.

Eyelids are formed.

Fetal movement increases.

The arms and legs are fully formed.

The voice box (larynx) begins to form in the trachea.

The fetus is most vulnerable during the first 12 weeks. During this period of time, all of the major organs and body systems are forming and can be damaged if the fetus is exposed to drugs, infectious agents, radiation, certain medications, tobacco and toxic substances.

Even though the organs and body systems are fully formed by the end of 12 weeks, the fetus cannot survive independently.

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Fertility, Pregnancy and Childbirth Pregnancy Labor and Delivery Fertility Procedures Staying Healthy During Pregnancy What You Need to Know Your first prenatal visit is the most thorough. A complete medical history is taken, a physical exam is done, and certain tests and procedures are performed to assess the health of both you and your unborn baby.

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“Second Trimester.” Second Trimester - Stanford Medicine Children’s Health, www.stanfordchildrens.org/en/topic/default?id=second-trimester-85-P01234#:~:text=Fetal%20development%20during%20the%20second%20trimester%20includes%20the%20following%3A,can%20hear%20the%20mother%E2%80%99s%20voice. Accessed 20 Oct. 2024.

“The Third Trimester.” Johns Hopkins Medicine, 20 June 2024, www.hopkinsmedicine.org/health/wellness-and-prevention/the-third-trimester#:~:text=The%20Third%20Trimester%3A%20Fetal%20Development,average%2C%206%20to%209%20pounds.

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During this trimester, the weight of your growing baby will multiply more than seven times — and you will start showing more.

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Author links open overlay panelJane E. Mijovic, et al. “The Physiology of Human Parturition.” Advances in Organ Biology, Elsevier, 22 May 2008, www.sciencedirect.com/science/article/abs/pii/S1569259008600695.

professional, Cleveland Clinic medical. “Lactation (Human Milk Production): How It Works.” Cleveland Clinic, 12 July 2024, my.clevelandclinic.org/health/body/22201-lactation.

“About Alcohol Use during Pregnancy.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, www.cdc.gov/alcohol-pregnancy/about/index.html#:~:text=Alcohol%20use%20during%20pregnancy%20is,alcohol%20spectrum%20disorders%20(FASDs). Accessed 20 Oct. 2024.

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“Down Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 8 Mar. 2018, www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983#:~:text=Diagnostic%20tests%20during%20pregnancy&text=Diagnostic%20tests%20that%20can%20identify,and%2013%20weeks%20of%20pregnancy.

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Diagnosis

The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age.

Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome. But these tests can't tell for sure or diagnose whether the baby has Down syndrome.

Diagnostic tests can identify or diagnose whether your baby has Down syndrome.

Your health care provider can discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of your results. If appropriate, your provider may recommend that you talk to a genetics counselor.

Screening tests during pregnancy

Screening for Down syndrome is offered as a routine part of prenatal care. Although screening tests can only identify your risk of carrying a baby with Down syndrome, they can help you make decisions about more-specific diagnostic tests.

Screening tests include the first trimester combined test and the integrated screening test.

The first trimester combined test

The first trimester combined test, which is done in two steps, includes:

Blood test. This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.

Nuchal translucency test. During this test, an ultrasound is used to measure a specific area on the back of your baby's neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this neck tissue.

Using your age and the results of the blood test and the ultrasound, your doctor or genetic counselor can estimate your risk of having a baby with Down syndrome.

Integrated screening test

The integrated screening test is done in two parts during the first and second trimesters of pregnancy. The results are combined to estimate the risk that your baby has Down syndrome.

First trimester. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.

Second trimester. The quad screen measures your blood level of four pregnancy-associated substances: alpha fetoprotein, estriol, HCG and inhibin A.

Diagnostic tests during pregnancy

If your screening test results are positive or worrisome, or you're at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. Your health care provider can help you weigh the pros and cons of these tests.

Diagnostic tests that can identify Down syndrome include:

Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low.

Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.

Preimplantation genetic diagnosis is an option for couples undergoing in vitro fertilization who are at increased risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it's implanted in the womb.

Diagnostic tests for newborns

After birth, the initial diagnosis of Down syndrome is often based on the baby's appearance. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a chromosomal karyotype to confirm diagnosis. Using a sample of blood, this test analyzes your child's chromosomes. If there's an extra chromosome 21 in all or some cells, the diagnosis is Down syndrome.

Treatment

Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on individual needs. Also, different stages of life may require different services.

Team care

If your child has Down syndrome, you'll likely rely on a team of specialists that can provide medical care and help him or her develop skills as fully as possible. Depending on your child's particular needs, your team may include some of these experts:

Primary care pediatrician to coordinate and provide routine childhood care

Pediatric cardiologist

Pediatric gastroenterologist

Pediatric endocrinologist

Developmental pediatrician

Pediatric neurologist

Pediatric ear, nose and throat (ENT) specialist

Pediatric eye doctor (ophthalmologist)

Audiologist

Speech pathologist

Physical therapist

Occupational therapist

You'll need to make important decisions about your child's treatment and education. Build a team of health care providers, teachers and therapists you trust. These professionals can help evaluate the resources in your area and explain state and federal programs for children and adults with disabilities.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Coping and support

When you learn your child has Down syndrome, you may experience a range of emotions, including anger, fear, worry and sorrow. You may not know what to expect, and you may worry about your ability to care for a child with a disability. The best antidote for fear and worry is information and support.

Consider these steps to prepare yourself and to care for your child:

Ask your health care provider about early intervention programs in your area. Available in most states, these special programs offer infants and young children with Down syndrome stimulation at an early age (typically until age 3) to help develop motor, language, social and self-help skills.

Learn about educational options for school. Depending on your child's needs, that may mean attending regular classes (mainstreaming), special education classes or both. With your health care team's recommendations, work with the school to understand and choose appropriate options.

Seek out other families who are dealing with the same issues. Most communities have support groups for parents of children with Down syndrome. You can also find internet support groups. Family and friends can also be a source of understanding and support.

Participate in social and leisure activities. Take time for family outings and look in your community for social activities such as park district programs, sports teams or ballet classes. Although some adaptations may be required, children and adults with Down syndrome can enjoy social and leisure activities.

Encourage independence. Your child's abilities may be different from other children's abilities, but with your support and some practice your child may be able to perform tasks such as packing lunch, managing hygiene and dressing, and doing light cooking and laundry.

Prepare for the transition to adulthood. Opportunities for living, working, and social and leisure activities can be explored before your child leaves school. Community living or group homes, and community employment, day programs or workshops after high school require some advance planning. Ask about opportunities and support in your area.

Expect a bright future. Most people with Down syndrome live with their families or independently, go to mainstream schools, read and write, participate in the community, and have jobs. People with Down syndrome can live fulfilling lives.

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The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age. Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome.

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First trimester

During this time, the baby’s brain and spinal cord are forming. Alcohol disrupts this development which can lead to less brain cells

Growing up, children may have trouble with social skills and managing emotions as they grow.

Second Trimester

The formation of the connection of neurons begin, alcohol may impair this, leading to less effective neuron communication

Many brain areas may be affected such as the frontal cortex, affecting the baby’s future cognitive abilities

Third Trimester

The brain grows rapidly during this time, exposure to alcohol would lead to a smaller brain size. The child may have problems with behaviour and attention

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hCG hormone

Levels decrease after the first trimester

Estrogen

Levels continue to rise to help uterine growth and blood flow to the uterus

Progesterone

Continues to rise. It maintains the uterine lining and prevents premature contractions.

Prolactin

Levels start to rise to prepare for breastfeeding