In order to prevent such situations, a whole system of measures aimed at preventing intrauterine pathologies was developed, which was called prenatal, or perinatal diagnosis. This kind of research is carried out practically in every family planning center and perinatal diagnostics.
What is perinatal diagnosis and why is it needed?
If we consider this type of research in more detail and talk about what is the main goal of perinatal diagnosis, then, of course, this is an early detection of fetal pathologies, even at the stage of being in the mother's womb. This area of medicine is primarily concerned with the establishment of chromosomal, hereditary diseases and congenital malformations in the future baby.
So, today doctors have the opportunity to determine the probability of having a baby with chromosomal abnormalities already within 1 trimester of pregnancy with a high degree of accuracy (about 90%). Special attention is paid to such genetic diseases as Down syndrome, Edwards syndrome, Patau syndrome (trisomy of 21, 18 and 13 chromosomes, respectively).
In addition, as part of a complex of examinations for perinatal diagnosis, ultrasound can diagnose pathologies such as heart disease, disruption of the brain and spinal cord, kidneys of the fetus, etc.
What are the two methods used for perinatal diagnosis?
Having told that this is perinatal diagnostics, and for what it is carried out, we will consider the main types of research with it.
First of all, it is necessary to say about screening tests, which almost every woman heard during the gestation of her baby. The first such study is carried out at a time of 12 weeks, and is called a "double test". At the first stage, a woman undergoes ultrasound on a special apparatus, which differs significantly from that used usually for internal organs. When it is carried out, special attention is paid to the values of such parameters as the coccygeal-parietal size (CTE), the thickness of the collar space.
Also, calculating the size of the fetal nasal bone, exclude gross developmental anomalies.
The second stage in conducting screening studies, involves a study of the blood of a future mother. To do this, the biomaterial is taken away and veins and sent to the laboratory, where the analysis is carried out on the level of hormones synthesized directly by the placenta. These are 2 proteins associated with pregnancy: RAPP-A and a free subunit of chorionic gonadotropin (hCG). With chromosomal abnormalities, the content of these proteins in the blood significantly deviates from the norm.
The data obtained as a result of such studies are entered into a special computer program that accurately calculates the risk of developing a chromosomal pathology in a future baby. As a result, the system itself determines whether a woman is at risk or not.
All these manipulations are carried out under the strict control of ultrasound in order not to damage the baby, and only by a highly qualified specialist. The resulting fetal cells are sent to a genetic study of the karyotype, after which the mother is given the exact answer - whether the baby has chromosomal abnormalities or not. Such a study, as a rule, is carried out with positive screening tests.
Thus, every woman should know why the functional diagnosis is performed in the perinatal center, and understand the importance of these studies.