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Congenital Diseases

When should I be worried about congenital diseases

Your baby has a higher chance of having congenital disease if he falls in any of the three reasons given below.  Note that there could be many other reasons for congenital diseases also.

  • Congenital diseases in the previous baby
  • History of congenital anomalies in the family which are likely to be repeated
  • Maternal age is above 35, then there is a higher chance of the baby getting Down's syndrome

How are abnormalities in the baby detected

Down's syndrome (more common in women over 35) and many other genetic disorders can be diagnosed by performing in-utero test.  The doctor will generally ask for an alphafeto-protein (AFP) test before asking the mother to undergo amniocentesis.  Once deformities in the baby have been diagnosed, the difficult decision of whether to keep the baby or terminate the pregnancy has to be made. 

Can birth defects be detected with regular blood tests

Studies have shown that 90 % of birth defects cannot be detected through prenatal blood tests. In order to isolate the remaining 10 % of the identifiable birth defects, there are four main types of tests: amniocentesis, chorionic villi sampling, certain blood tests, like the Alphafeto-Protein (AFP) test, and ultrasound scans.

What tests can detect congenital diseases (Dr. Mansukhani)

  • Triple test - Serum AFP, Serum Estriol, Beta hCG - in the first trimester
  • Ultrasonography in the first trimester (around 10-12 weeks) to look for any translucency in the neck region
  • Amniocentesis to get a complete genetic makeup of the baby

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