Dr. Stoilov: Risk of genetic disease of the baby does not mean termination of pregnancy

Dr. Stoilov, the number of women giving birth at an older age is increasing, and screening the baby for genetic diseases is recommended. What are the mandatory examinations that must be done, and in what period of the pregnancy?

– Indeed, there are more women who give birth at older age. Perhaps the statistics are shifting because of the women who become mothers after 40, and this may have infected the in-vitro procedures

As far as the tests done during pregnancy are concerned, they are absolutely the same for every woman. Yes, women at higher risk for certain conditions or pregnancy complications may need more frequent visits to an OB/GYN or a fetal medicine specialist.

The highly specialized examinations include the screening in the first trimester, which takes place between 11 and 13 weeks of gestation, the fetal morphology between 19 and 23 weeks of gestation, and the so-called third morphology, or fetal growth monitoring with Doppler at 36 weeks of gestation. The most important examination is the earliest – the first trimester screening. This is the earliest moment at which we can detect various anomalies of the fetus. Our knowledge and modern equipment allow us to examine the baby in great detail, even though it is only about 6-7 cm. The heart is maybe the size of a pea, but are able to detect many cardiac abnormalities that have prognostic significance.

This is also the period in which we can very accurately determine the probable term and date the pregnancy. Sometimes, even if menstruation is regular, pregnancy can happen a few days, even a week or two later. This is essential for tracking of the pregnancy, so that the pregnant women don’t worry whether their baby is lagging behind, or is too big if the pregnancy is not dated correctly.

Everybody knows about the Down syndrome screening, and anyway, the first-trimester screening is synonymous with Down syndrome screening. But it is just one of over 7,000 genetic disorders. Yes, it is the most common genetic disorder, affecting 1 in 700 women, and we have now become very good at detecting it. But it is not the only one. The markers that we can find in this time frame can give us indications for more thorough genetic studies that will improve the diagnosis of many other genetic diseases as well. So the first trimester screening is not just for Down syndrome.

And speaking of frequency of occurrence, here I will also mention the frequency of one of the most severe and common complications of pregnancy – preeclampsia. It occurs between 2 to 8 pregnant women in 100. In other words, Down syndrome occurs in 1 in 700, while preeclampsia – on average 5 in 100 women, which is much more common. Preeclampsia is one of the most severe and common complications. It is a cause of morbidity and mortality for both pregnant women and babies. This is one of the most common causes of self-induced premature labor when it is severe and cannot be controlled.

In the last three decades, a lot of work has been done to determine the causes and whether there is a way to prevent this condition. There are numerous studies. The good thing is that after 2017 we now not only have a method to detect 9 out of 10 women who will develop pre-eclampsia, but in about 86% of them we can prevent the condition from developing and save the life of both the mother and the baby..

Link to the full interview of Dr. Stoilov: https://trafficnews.bg/zdrave/d-r-stoilov-risk-genetichno-zaboliavane-bebeto-ne-oznachava-207064/


Center for Fetal Medicine

Get informed about the world of Fetal Medicine with Dr. Boris Stoilov.

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