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16-07-2024

3.5 Minute Team Medicover woman-and-child

Written by Medicover Team and Medically Reviewed by Dr Tanuja Priyadarsini V, Gynecologist

Key Signs of Down Syndrome During Pregnancy

When you're pregnant, it's normal to want to know everything about your baby's health. One condition that can sometimes occur is Down syndrome, a genetic disorder. There are certain signs and medical tests that can help doctors check if your baby might have it. Understanding what to look for and the steps you can take for early detection are crucial for any expectant parent.

In this article, we'll explore what Down syndrome is, the signs and tests available during pregnancy, the role of genetic counselling, and preventative measures.

What is Down Syndrome?

Down syndrome is a genetic condition that occurs when a baby is born with an extra copy of chromosome 21. Normally, people have 46 chromosomes in each cell, but babies with Down syndrome have 47. This extra chromosome affects how the baby’s body and brain develop.

It can lead to mild to moderate intellectual disability, delays in growth, and certain physical traits like a flat facial profile, upward slanting eyes, and low muscle tone. Some babies may also be born with heart or digestive problems.

Down syndrome is not caused by anything the parents did, and it can happen in any pregnancy. However, the risk increases with the mother’s age, especially after age 35.

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Symptoms of Down Syndrome During Pregnancy

While there are no obvious physical symptoms in the mother, certain signs and test results can raise concerns about Down syndrome in the fetus. These signs are usually detected through routine prenatal screenings and ultrasounds.

Screening Tests

Screening for Down syndrome is a routine part of prenatal care. These non-invasive tests can indicate the likelihood that a fetus has Down syndrome but cannot diagnose the condition with certainty.

First Trimester Screening: Typically conducted between 11 and 14 weeks of pregnancy, this screening includes a blood test measuring levels of pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin (hCG) and a nuchal translucency ultrasound to measure fluid at the back of the baby’s neck
Second Trimester Screening (Quad Screen): Performed between 15 and 22 weeks, the quad screen tests for four substances in the mother's blood that can be indicators of Down syndrome and other conditions.

Diagnostic Tests

If screening tests indicate an increased risk of Down syndrome, diagnostic tests can provide a definitive answer.

Chorionic Villus Sampling (CVS): CVS involves taking a sample of cells from the placenta and can be done between 10 and 13 weeks of pregnancy.
Amniocentesis: Typically performed between 15 and 20 weeks, amniocentesis involves sampling the amniotic fluid surrounding the fetus to look for genetic abnormalities.

Ultrasound Findings

Specific markers on an ultrasound may raise suspicion for Down syndrome, though they are not definitive. These can include:

Increased nuchal translucency
Absent or small nasal bone
Dilated brain ventricles
Abnormalities in the heart or intestines
Shortened limb lengths

Genetic Counseling

Genetic counselling can be very helpful for parents during pregnancy, especially if tests show a higher risk of Down syndrome.

A genetic counsellor explains what the test results mean, what Down syndrome involves, and what options the parents have. They also offer emotional support and help parents make informed decisions about their pregnancy and their baby’s care.

Risks of Down Syndrome in Pregnancy

The chance of having a baby with Down syndrome increases with certain risk factors. While it can occur in any pregnancy, some women have a higher likelihood based on age, family history, and genetic factors.

Key Risk Factors:

Maternal Age:
- The most well-known risk factor.
- Women over 35 have a higher chance of having a baby with Down syndrome.
- Risk increases with age—for example, about 1 in 350 at age 35 and 1 in 100 at age 40.
Previous Pregnancy with Down Syndrome:
- If a woman has previously had a child with Down syndrome, the risk of recurrence is slightly higher.
Family History of Genetic Conditions:
- If either parent is a carrier of a chromosomal translocation, the chance of passing Down syndrome to the child increases.
Certain Genetic Disorders:
- Inherited changes in chromosomes (e.g., translocation type) can increase risk, though this is rare.

How to Prevent Down Syndrome During Pregnancy

Down syndrome cannot be prevented, but screening and diagnostic tests during pregnancy help detect it early. Genetic counselling is also recommended for families with known risk factors to better understand the chances and testing options.

Prenatal Care and Down Syndrome

Prenatal care is vital for monitoring the health of both the mother and the fetus. Regular check-ups, screenings, and tests are part of a proactive approach to managing any potential issues that may arise, including the detection of Down syndrome.

Early and Regular Prenatal Visits: Regular visits allow healthcare providers to perform necessary screenings and offer advice on maintaining a healthy pregnancy.
Healthy Lifestyle: While it won't prevent Down syndrome, maintaining a healthy lifestyle during pregnancy can minimize the risk of other complications.
Advanced Maternal Age Considerations: Women over the age of 35 might consider genetic counselling to discuss the risks and options related to Down syndrome and other genetic disorders.

Important Points to Remember:

Screening tests estimate the risk of Down syndrome; they do not give a definite answer.
If a screening test is positive, your doctor may recommend a diagnostic test to confirm the condition.
Diagnostic tests include amniocentesis and chorionic villus sampling (CVS), which check the baby's chromosomes directly.
These tests carry a small risk of miscarriage, so they are usually done when screening results suggest a higher risk.
CVS can be done earlier in pregnancy (around 10–13 weeks), while amniocentesis is usually done after 15 weeks.

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Conclusion

Understanding the symptoms of Down syndrome during pregnancy, the role of prenatal testing, and the support available through genetic counselling can empower expectant parents to make informed decisions. While the condition cannot be prevented, early detection provides valuable time for preparation and planning to ensure the best possible care for the child.

As research continues to advance, there is hope that future developments will offer even more excellent support and options for families affected by Down syndrome. For now, knowledge, preparation, and compassionate care remain the cornerstones of navigating this aspect of pregnancy.

Frequently Asked Questions

Yes, it can be detected using tests like NIPT, CFTS, amniocentesis, or CVS, which assess the risk or confirm the presence of Down syndrome in the baby.

Maternal age is the main risk factor. Older mothers and those with a family history or a previous child with Down syndrome have a higher chance.

The risk increases with age—about 1 in 1,200 at 25, 1 in 350 at 35, and 1 in 100 at 40 due to a higher chance of chromosomal issues.

Tests like the first-trimester screen, quad screen, and NIPT check hormone levels or fetal DNA to assess the risk of Down syndrome.

They are usually calm, affectionate, and social. Developmental delays in speech, motor, and thinking skills may occur, but early support helps.

Down syndrome can’t be completely prevented, but risks may be reduced by planning pregnancy at a younger age, taking prenatal vitamins, and regular prenatal checkups.

Prenatal screening tests like blood tests and ultrasounds can assess the risk. Diagnostic tests like amniocentesis or CVS confirm the diagnosis during pregnancy.

No, Down syndrome cannot be cured during pregnancy. It’s a genetic condition caused by an extra chromosome and lasts a lifetime.

Signs include increased fluid at the back of the baby’s neck, heart defects, or certain facial features seen in ultrasounds, and abnormal blood markers.

There’s no specific food to prevent Down syndrome, but eating a balanced diet rich in folic acid, iron, and essential nutrients supports overall fetal development.