Flawed Pregnancy

Chromosomal abnormalities of the growing foetus are rare; however, several parents get worried that their child could be the one affected. Chromosomal anomalies could be due to either the chromosomes or due to one or more genes. Most gene abnormalities do not lead to a defect in the child except when an abnormal gene is passed on from both the mother and father’s side.

Generally, when merely one reproduction of a gene is flawed, the good copy from the other parent would overshadow the faulty one.

Chromosomal abnormalities are more prevalent than is usually understood.

• Chromosomal abnormalities lead to more than fifty percent of miscarriages during the preliminary pregnancy stages.
• In nearly 0.5-1% of all live deliveries, the newborn was detected with an identifiable chromosome abnormality.

Down’s syndrome

The most familiar form of chromosomal abnormality is Down’s syndrome. Those affected individuals have three no.21 chromosomes in its place of the normally occurring two no.21 chromosomes. Down’s syndrome affected individuals have less IQ and distinguishing features like short limbs and a distinctive crinkle around the eye area. Such babies commonly have congenital cardiovascular defects.

It is tricky to envisage if a Down’s syndrome child would mild or severe mental retardation.

Down’s syndrome does not occur that commonly, however the likelihood of delivering one increases with age.

In case one has had a preceding pregnancy that was affected due to Down’s syndrome then the risk would increase to three times.

In case a close kin member has been affected by Down’s syndrome, then one might want to undergo screening to check if one has acquired a chromosome aberration that raises the risk of delivering an affected baby – a condition known as balanced translocation.

Other Syndrome Types

Those children having an additional chromosome no.13 that leads to Patau’s syndrome or chromosome no.18 that causes Edward’s syndrome hardly ever manage to live subsequent to birth. Such conditions are less prevalent as compared to Down’s syndrome.

In case an embryo has a 45XO constitution, with the other sexual chromosome absent, it would be a girl having Turner’s syndrome. Such girls are short in stature and incapable of conception due to poorly developed ovaries. They have normal mental development though some heart anomalies are commonly noted.

Molar Pregnancy

A molar pregnancy is an atypical form of pregnancy that has an irregular constitution of chromosomes and fails to normally continue.

• A complete molar pregnancy leads to the development of a placenta that appears alike a cluster of grapes with no accompanied foetus.
• Partial molar pregnancies leads to the development of an embryo that fails to grow.

In spite of surgical excision of the anomalous tissue by D & C procedure, ten to fifteen percent of total molar pregnancies still have continued growth, as also is the case of nearly one percent of partial molar pregnancies.

Hence, it is a practice followed wherein subsequent to a molar pregnancy in a woman, she is listed for follow up sessions at the medical centres where her urine samples are analysed at regular time intervals for ensuring that the hCG hormone is dwindling. This is due to the anomalous tissue producing hCG – hence its presence points to a continual or relapsing molar pregnancy. It is recommended not to attempt pregnancy again till the consent is not given.

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