Prenatal Diagnosis

What is pre-natal diagnosis?

Many babies are born with major and less severe congenital abnormalities. These may be associated with chromosomal and genetic problems. Today, such conditions can easily be either predicted before the pregnancy OR detected inside the mothers’ uterus by using advanced ultrasound-based techniques and running tests on fetal cells taken out of pregnant mother’s uterus.

Why prenatal-diagnosis is important?

Individuals with congenital abnormalities suffer from many problems, which limit them from living a fulfilling life. Also, they often come with many problems for their respective families and society as a whole. So, with prenatal diagnosis, the incidence of these conditions can significantly be reduced. This is good for that person, the family, as well as the whole society.

What is Down Syndrome?

Down syndrome is a chronic condition that causes delays in learning and development. It also accompanies many other serious medical problems like heart disease. The severity of the condition varies between the affected individuals.
Generally, people have 46 chromosomes in each cell. However, in certain cases, a few more chromosomes could be present. In Down syndrome, in particular, an extra copy of chromosome 21 is present. These three copies of a chromosome also give it the name Trisomy 21.

Although the person can live a long life, she/he does require long-term help and support.

Can problems like Down Syndrome be diagnosed before the birth of the baby?

Yes. It starts by getting a blood test done of the pregnant woman to measure the level of certain hormones to detect problems. An initial review of the unborn baby in the uterus should be done through ultrasonography and Blood based tests . These can help to identify the increased risk of Down syndrome (and other chromosomal disorders) in the unborn baby. To confirm , the patient may decide to go for further tests like Amniocentesis or CVS.

Can problems like Thalassemia be diagnosed before the birth of the baby?

Yes. Prenatal diagnosis and fetal medicines can significantly help to detect Thalassemia and many more genetic conditions inside mother’s uterus before baby is born .

What to do if congenital abnormalities or hereditary conditions are diagnosed before the birth of the baby?

Terminating the pregnancy is one option. On the other hand, you can also opt for corrective measures. Many congenital problems of babies can either be managed inside the uterus or immediately after birth. Consult your doctor and discuss all the possible options.