Only in 1970, it was found that anomalies can be detected before birth. Since 1980 ultrasound scan of the baby inside the womb (Fetus) became frequently available.

Prenatal Diagnosis / Antenatal Counselling

What is Fetal Ultrasound?

Currently most pregnant women undergo one or two ultrasound scans during their pregnancy. The first scan called 'dating scan' is to confirm the pregnancy and assess the duration of pregnancy. The second scan called 'anomaly scan' is to find out development of organs and identify any defects. It also helps to determine about further tests or treatment. This second scan is ideally done between 16 and 20 weeks of pregnancy. In addition some pregnant women require more than two scans, and in this situation more details about the fetus become available.

What are the anomalies that are widely detected before birth?

  • Cardiac Anomalies
  • Problems in Chest
  • Problems with Gut
  • Kidney Problems
Prenatal Diagnosis: kidney disease
  • Brain Problems

Some Examples

Congenital Diaphragmatic Hernia:

If detected before birth CDH is diagnosed by seeing the stomach and some of the intestines in the chest area on the ultrasound scan. CDH can be associated with other abnormalities. Therefore it is important to carry out other investigations such as amniocentesis and a detailed scan of the heart. CDH can also result in an increase in the amniotic fluid around the baby (known as Polyhydramnios) which may lead to an early delivery. CDH is a serious condition. Overall 85% of those diagnosed antenatally may die before or after delivery, but of those with no other abnormalities approximately 50% survive.


About half of all babies with exomphalos will have problems affecting other body systems. Most commonly affected are the heart, lungs, and kidneys. Detailed scans will be performed but it is not always possible to detect problems before the baby is born. There is also an increased risk of a chromosomal abnormality (amniocenetesis is a test to detect it) It should be possible for you to deliver your baby in the normal way unless the exomphalos is very large, or there are other reasons for requiring a Caesarean Section. After your baby is born the sac will be wrapped in a plastic film to both protect it and reduce heat and fluid loss. The size of the sac and its contents can vary greatly from being very small to very large. It is therefore impossible to say exactly what type of operation is required for Exomphalos until your baby is born and the actual size can be seen.

What is Antenatal Counselling? How does it help?

When there is an anomaly in the unborn baby, there could be a lot of anxiety among parents. Obtaining more information from a specialist in this area, can relieve the anxieties and also provide answer to many questions. This step is called 'antenatal counselling'.

Prenatal Diagnosis: Antenatal counselling

It will help to plan the type of delivery, place of delivery (where treatment is available to the baby after birth), the type of tests required after birth. Also it helps to find out more about what is expected in the long run (prognosis) and whether the problem can occur again in the following children (familial incidence).

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