MD. Nuri Ceydeli, Women’s Health and Diseases Specialist from Anadolu Medical Center, talked about the tests applied to detect anomalies during pregnancy.
With the rapid developments in biochemical and cytogenetic methods and advances in ultrasound technology, many anomalies during pregnancy can be diagnosed early. If a healthy pregnancy is desired, you should do some tests before pregnancy, and if appropriate timing can be done, various vitamins should be started before pregnancy. After that, as soon as a menstrual delay occurs, you should consult a doctor, and the doctor should clarify the shape, location and number of pregnancies. At this stage, it should be revealed whether everything is in order with some blood tests.
After that, a vital process begins for both the family and the doctor. All families want the first thing, be it a girl or a boy, is that their babies are completely healthy. The most crucial point to be noted here is that, unfortunately, there is no blood test, imaging method or person showing that a baby in the womb is 100% healthy. With our current knowledge and the technology we have come to, we can only say that 60-70% of babies are healthy, and 30-40% of babies may face various problems.
Anomaly Detections Are More Accessible
With the approach in the centre followed, the sensitivity of the tests used, and the people’s experience, anomalies are minimised as much as possible. With the widespread use of ultrasound and the accumulation of experience in medical education, pregnancy follow-up has become more trouble-free. From 4-5 weeks of pregnancy, babies begin to be seen in the mother’s womb. In recent years, the approach has been 11-14. It is the application of the test, which is called double scanning between weeks and includes the measurement of nuchal thickness.
With this test, if the nape thickness of the baby is measured correctly and the information is entered into the computer correctly, several chromosomal diseases, especially Down syndrome, can be diagnosed at a rate of 85%. But here is the point that should not be forgotten; The 15% group and the cases where the test is a false positive or false negative. In addition, these tests are screening tests applied to the whole society. It should never be expected to show 100% accuracy. This dual screening test is routinely performed if the baby’s nuchal translucency can be evaluated.
Applied Tests
Generally, controls are done monthly as long as no problems are observed during pregnancy. 11-14. In the baby whose nuchal translucency values between 16th and 18th weeks are average and between 16-18 weeks, a triple screening test can be applied, or the third component, AFP protein, which is different from the double screening test, can be checked. This hormone is an essential indicator for neural tube defect, a disease with the open back of babies. If all these tests are within normal limits, the following method is a detailed ultrasound examination performed between 21-22 weeks and primarily trying to detect cardiac anomalies.
Detailed ultrasound is usually performed in many centres by people who do this job professionally and have a perinatology specialisation. If no anomaly is detected in this examination, things typically go well. However, in the following weeks of pregnancy, in parallel with the growth of babies, new problems may occur in various systems such as kidneys, brain and heart. These, too, can be detected during routine ultrasound examinations.
If an Anomaly Is Detected
All the information mentioned so far includes non-invasive procedures to keep things running. Some interventional procedures are applied if an anomaly is detected at or after the 10th week and thought to belong to a chromosomal disorder. These are 9-11, respectively. Chorionic villus sampling between weeks 16-18. week-to-week amniocentesis. The primary basis in all of these processes is the determination of chromosomes by taking the cells belonging to the baby and multiplying them in unique environments. In this way, some chromosomal diseases that can be detected can be revealed in the early period.
If a problem is incompatible with life, the babies can be evacuated. However, this diagnosis and evacuation are not always easy. Ethical and medical problems sometimes arise here. Generally, medical evacuation is possible by delivering a baby with an abnormality up to 24 weeks if approved by the appropriate board. After this week, things get a little more complicated for recognised problems.
In many clinics, pregnancies with problems incompatible with life are terminated if particular medical councils approve. It is not easy to make decisions here. Because as the gestational week progresses, terminating the pregnancy is difficult for both the family and the doctor. At the same time, the likelihood of complications increases rapidly. Considering all these, early diagnosis of anomalies becomes even more critical.
Unnecessary Actions Taken
Unnecessary invasive procedures may be done on babies who grow in an average developmental period. All attempts have a particular risk of miscarriage, even if the baby looks healthy. For this reason, when a problem is encountered, the risk should be fully explained to the patient, and the procedure should be done after the joint decision. Otherwise, problems will arise in the family, the doctor and the laboratory.
When all these are taken into account, it becomes clear how important and challenging it is to closely follow up on the pregnancy. In addition, even today, there is no diagnostic method that shows 100% of all anomalies. For this reason, both the pregnant and the doctor should offer the utmost care for the healthy progress of the pregnancy. The basis of healthy individuals is a healthy pregnancy.
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