Prof. Dr. Mahmoud Emad Salem,
Assistant Professor of Obstetrics & Gynecology – Cairo University.

Subject: Congenital anomalies … Causes, early diagnosis & prevention.

After we mention types and causes of congenital anomalies … what about the diagnosis?

There are many methods to diagnose congenital anomalies. The safest one is using ultra sonography we can detect the anomaly of each organ in certain age, for example heart anomalies can be detected at the age of 18 weeks of pregnancy, kidneys at 16 weeks and hydrocephalis at 24 weeks.

Another method of early diagnosis is collecting an amniotic fluid sample “the fluid surrounding the fetus “to examine the cells for chromosomes and enzymes. This allows us to detect many anomalies like G6PD that leads to Favism. We can also collect fetal blood sample using a needle guided by U/S.

The previous methods give results between 16-18 weeks of pregnancy. There are some methods that give early results between 8-9 weeks such as chorionic villi sampling. But it may give false results in 2-4% of the cases.

Professor, we have talked about many methods for diagnosis of congenital anomalies. Many of them are aggressive some way as we you mentioned.

Is there new method, which is less aggressive and gives accurate results?

Yes, there is a new method called the triple marker. It’s measuring the level of certain hormones in maternal blood. It’s known that any anomaly in the fetus affects the level of hormones in maternal blood, so we can detect the anomalies by measuring hormones level. But we must be sure of pregnancy dating because hormones level differs from one day to another. This method can detect the anomalies between 13-16 weeks.

After you mentioned causes and diagnosis of C.A. we have to ask, is it a must for every pregnant to check her fetus for C.A.?

In fact not all of them but there is some cases, which are in high risk. For example:

• Pregnancy after age of 40 years, as the chance of Mongolism is about 1%.
• Diabetic mother.
• Pregnant with a previous baby with congenital anomaly.
• The presence of hereditary disease in the mother or father family.
• Any abnormal finding during routine examination.

At the end of the meeting we’d like to thank professor Dr. Mahmoud Emad Salim for his precious time hoping that we had covered all the point concerning congenital anomalies