Most parents after conceiving chose to opt for various diagnostic services as a part of pre-natal care. These diagnostic tests help parents detect various disorders and syndrome that can affect the developing baby in the womb. Down syndrome is one such syndrome that affects many children across the world and can be diagnosed in early stages of pregnancy.

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Pregnancy is a wonderful phase for every couple. Nevertheless, it is very important to exercise caution and ensure all tests are done to ensure a safe pregnancy and be confident that your baby inside you is developing well. To avoid this happiness from getting destroyed, the Down syndrome test is performed on every pregnant mother.

Down Syndrome During Pregnancy

What is Down Syndrome?

Downs syndrome is a genetic abnormality that results in decrease physical and mental function. It affects about 1 in every 700 babies born across the world. This syndrome is also called by the name “trisomy 21”, as it results from the extra copy of chromosome 21.

Babies born with Down syndrome have impaired learning as well as reduce language capabilities. Their physical appearance is also impaired making daily activities a struggle for them.

What causes Down Syndrome?

Each cell in the body normally contains 23 pairs of chromosomes. Half of each chromosome pair is received from the mother and father. However, individuals having an extra pair of chromosome 21 are affected by the Down syndrome. Most common symptoms of Down syndrome in children include

• Flat facial features
• Enlarged tongue
• Abnormal shaped ears
• Decreased muscle tone
• Hyper flexibility of joints
• Distorted eyes
• Short and stubby fingers
• Reduced hearing and vision
• Cardiovascular disorders

Screening for Down Syndrome in Pregnancy

All pregnant women have to undergo a screening diagnosis for Down syndrome. The screening tests generally include an ultrasound and some blood tests. It is usually done in the first trimester of pregnancy. If a mother misses to have this test, she can take the test in the second trimester. However, it is important to detect this abnormality in early stages of pregnancy in order to take a cautious decision.

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How is Down syndrome detected in Pregnancy?

Women who get pregnant at an age above 35 years are at more risk of giving birth to a Down syndrome child. Hence Down syndrome screening is extremely important to detect this genetic disorder. Screening tests involve blood tests, ultrasounds, and risk analysis tests.

1} Risk analysis tests

Risk analysis tests indicate the probability of your baby developing Down syndrome. A false positive test indicates no risk of your baby developing Down syndrome. A false negative test indicates a risk of your baby developing Down syndrome.

2} Biochemical serum screening

Blood tests such as biochemical serum screening are done to measure the protein and hormonal levels in the blood which are produced by the developing fetus. The pregnancy associated hormones include alpha-fetoprotein, plasma proteins, and beta chorionic gonadotrophin. If the developing fetus is having Down syndrome, the levels of these hormones will be affected in the blood.

3} Nuchal translucency ultrasound scan

A special ultrasound is also performed in the first trimester of pregnancy. The ultrasound is called nuchal translucency. This ultrasound is performed to measure the space between spine and back of the fetus’s neck. Fetus having Down syndrome will have more fluid in the neck than the normal fetus.

4} Prenatal diagnostic tests

The other antenatal tests to detect Down syndrome include

• Amniocentesis: Usually done at 15 weeks of pregnancy
• Chorionic Villus Sampling: Done at 10 weeks of pregnancy

Diagnosis is generally confirmed by genetic tests that give the appearance of the chromosomal structure. All these tests detect Down syndrome during pregnancy with an accuracy of 98% true in most cases.

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What are the options when detected with Down Syndrome?

If the results of the above mentioned tests confirm that your baby has Down syndrome, your doctor will have a detailed discussion with you on it. The possible options are

• Termination of pregnancy
• Continue with pregnancy and take advice on how to prepare and take care for your abnormal baby.
• Continue pregnancy and give up baby for adoption post-birth

All the above mentioned decisions are very difficult for parents to make. Nevertheless, there is no cure or treatment for Down syndrome. Children born with it need to live with this syndrome till the end of their life. By being aware and having enough medical information regarding this syndrome, you can consider what is best for you and your family.

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References

https://www.webmd.com/children/tc/down-syndrome-topic-overview#1

https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983