According to statistics, about 5% of children are born with congenital malformations. But prenatal diagnosis makes it possible to reduce the risk of having a sick child. It not only allows you to determine the sex of the baby or establish paternity, but also helps to identify congenital malformations of the fetus to determine the risk of possible inheritance "family" of disease, as well as to solve the issue of further prolongation or termination of pregnancy with a sick child.
Prenatal (prenatal) diagnostics - is a complex of medical measures, which aim to detect fetal pathology fetal development
Fetal development - week after week
. Prenatal diagnosis - is voluntary, but refusal, and, respectively, and the possible consequences of its conduct, entirely rests with the prospective parents.
Methods of prenatal diagnosis
- Pedigree analysis of parents;
- genetic analysis for the parents;
invasive (surgical, with the introduction into the uterus)
- chorionic villus sampling;
- platsentotsentez;
- amniocentesis;
- cordocentesis;
non-invasive:
- Screening of maternal serum factors;
- Ultrasound of the fetus and placenta;
- sorting fetal cells.
Pedigree analysis of parents
Going pedigree of future mothers and fathers, it appears in the collection of the presence of disease in the family all known relatives, including long distance. Also specify whether there was infertility, miscarriage or the birth of children with developmental disabilities at this couple. If there is a hereditary nature of the disease, the physician-geneticist defines the path of transmission and the percentage probability of its manifestations in the future remains.
Genetic analysis of the parents
It includes the study of chromosomes from each parent of the future. The method is justified by the fact that often at absolutely healthy people can meet chromosomal rearrangements that do not show themselves, but the inheritance of their unborn child can cause developmental abnormalities.
Indications for invasive examination methods of prenatal diagnosis
Invasive methods of prenatal diagnosis are not safe, can cause the risk of bleeding, miscarriage or injury to the fetus. So they carried out strictly on the evidence, preliminary laboratory testing of pregnant women, a medical specialist in a hospital.
- identified fetal malformations by ultrasound;
- women over the age of 35 years;
- the presence of children with congenital malformations;
- transferred during pregnancy or a history of infections (rubella, toxoplasmosis
Toxoplasmosis: pregnant women against cats
Herpes
Herpes - a virus creeping
and others);
- oligohydramnios or polyhydramnios;
- pregnant with abnormalities of serum markers of blood;
- stillbirth history.
Chorionic villus sampling
Held in the period of 10-11 weeks. The method consists in the study of chorionic cells (villous placental membranes). It can be carried out in two ways: through the cervix catheter, sucked a piece of CVS or directly through the abdominal wall is thin needle is inserted into the uterus through which the fence is made of chorionic tissue. The advantages of this method are the fastest results (3-4 day) and the ability to diagnose malformations up to 12 weeks.
Platsentotsentez
This is the same chorionic villus sampling only at a later date (second trimester) of pregnancy. It held only through the anterior abdominal wall.
Amniocentesis
Held sampling of amniotic fluid for studying them and fetal cells contained in the amniotic fluid. This method is used at 15-16 weeks of pregnancy, and also performed transabdominal (through the abdominal wall).
Cordocentesis
This fence of umbilical cord blood
Umbilical cord blood - why keep it?
fetus from the vein of the fetus through the abdominal wall. It carried out after 18 weeks of pregnancy.
All invasive methods carried out under a mandatory ultrasound.
Screening of maternal serum factors
Study of maternal serum factors AFP (AFP) and HCG (human chorionic gonadotropin) is carried out between 15 and 20 weeks of pregnancy to all pregnant women. In this case, the venous blood is investigated pregnant. Determining the level of AFP and hCG reveals Down syndrome, some deformities brain and spinal cord and many other fetal abnormalities. False positive or false negative results may occur in some cases: multiple pregnancy, especially the woman's body, while delivery of the analysis, the woman's age, and more. This method is effective in 70% of cases.
Ultrasound examination of the fetus and placenta
By order of the Ministry of Health, all pregnant women should undergo screening ultrasound three times for the whole period of pregnancy, at a time of 10-14 weeks, 22-24 weeks, 32-34 weeks. The method is available and quite effective.
Ultrasound to determine:
- the child's sex and gestational age;
- previa and placenta of the fetus;
- amount of amniotic fluid;
- availability and quality of the fetal heart;
- fetal malformations.
Sorting fetal cells
Determine erythroblasts and cells of the fetus in the mother's blood in the venous period of 8-20 weeks.
Despite the possible complications during some methods of their high cost and complexity, prenatal diagnosis is necessary for all pregnant women and to determine the risk of having a sick child. Therefore, the future parents in any case should not refuse to prenatal diagnosis, in future, not make life difficult for your child and yourself.
Anna Sozinova
