18 January

Chromosomal abnormalities during pregnancy

Chromosomal abnormalities can occur during the crossover of the genetic material of the ovum and sperm during fertilization. The pairs of chromosomes may not connect well or may break off.  This damage to the chromosomes at this stage may lead to the natural expulsion of the embryo as the pregnancy cannot proceed normally and may end in the form of an early miscarriage.

But some chromosomal abnormalities may not be big for the embryo to get expelled, but it could cause malformations in the baby in future. Chromosomal defects could also occur due to exposure of the growing embryo to some toxic substances, radiation and air contaminants during the early embryonic period.

Chromosomal abnormalities could be in the form of an additional chromosome or a deletion of a chromosome. Down’s Syndrome is an example of an additional 21st chromosome. Down’s syndrome happens to be one of the most common chromosomal abnormality to be diagnosed. Thus the child with Downs Syndrome has 47 chromosomes and the additional chromosome with its extra information can cause abnormalities both inside and outside baby with Downs syndrome. The external modifications include slanted eyes, malformed ears and abnormalities of the hand and the internal abnormalities often affect the heart and intellectual capacity of the child.

Amniocentesis is one form of fetal genetic test and is usually done during 16th to 17th week of Pregnancy. During this test, the fetal chromosomes are evaluated for any defect. With the aid of an ultrasound, A needle is inserted into the uterus and small amount of amniotic fluid containing the fetal cells are withdrawn. The fetal cells are examined for any possible defect. The results can be known in 2 to 3 weeks. The wait for the result can be both emotional and painful for the parents.

Since Down’s syndrome is more common in women who become pregnant in a later age. It is relatively more common for the Doctor to advice you for amniocentesis if you are in that age group.

Please watch our video about amniocentesis in Hindi by clicking here

About our blogs

We have put together weekly developments during pregnancy. These articles are only for information. Every pregnancy is different and every woman's experience may be different. We also have articles relating to women's health, infertility and plan to add information about newborn care. Through the blogs, videos and our online consultation services, we are trying to empower mothers (as well as soon-to-be-moms) with health information which is easily understandable. Our mission is to help mothers have a happy pregnancy and a very happy postpartum experience. 

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Pregnancy brings a new meaning to the concept of beauty to a woman. It is a period of immense joy, excitement and anxiety. The feeling of carrying a little soul within you is beautiful.

Last modified on Monday, 06 August 2018 10:11
Dr Padma

Dr Padma is a Family care physician and is the Founder and CEO of MedHealthTV.


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