Invasive and non-invasive prenatal diagnosis


1. When appointed?

2. How to prepare?

Prenatal diagnosis is a comprehensive pre-natal study, whose main goal is to detect the disease during fetal development.The survey reveals 98% of children with Down syndrome, approximately 99.9% of fetuses with Edwards syndrome, approximately 99.9% of children with Patau syndrome, more than 40% of children with developmental disorders of the heart muscle.

In case of confirmation of the disease in a child's parents with the help of medical consultant carefully assess the situation and the possibilities of modern medicine in terms of treatment of the baby.Ultimately, the family decides on termination or continuation of pregnancy.

Prenatal diagnosis also includes determination of paternity and child's sex in the earliest stages of pregnancy.At the present time, in many countries is already available preimplatatsionnoe genetic study of embryos resulting from in vitro fertilization.This diagnosis allows couples to have a baby, who had not ventu

red to have a child because of the high probability of hereditary diseases.

main methods of prenatal diagnosis are:

  • genetic research;
  • analysis pedigree parents;
  • non-invasive prenatal diagnosis, including ultrasound of the placental membranes and fetus, noninvasive prenatal test bunker, sorting fetal cells, screening of maternal serum factors;
  • invasive prenatal diagnostics, including blood samples from the umbilical cord (cordocentesis), sampling the amniotic fluid (amniocentesis), chorionic villus sampling, late chorionic villus sampling (platsentotsentez).

Noninvasive prenatal diagnosis is to carry out "double" and "triple" test."Double" the test is carried out by about 11-13 week.For the meeting the specialists take a woman's plasma protein and perform a blood test for hCG (human chorionic gonadotropin).As for the "triple" test, it is on the 16-20 week of pregnancy.In this case, doctors determine the level of alpha-fetoprotein and estriol.

invasive method of diagnosis is essential for a deeper analysis (for example, to determine the degree of likelihood of genetic abnormalities).In the early stages of pregnancy health professionals take the cell membrane of the embryo, and later - the child's own cells.The fence is made of cells of the uterine cavity using a special needle under ultrasound machine.

When he appointed?

main indications for prenatal diagnosis are:

  • structural chromosomal rearrangement in one parent;
  • identify biochemical or ultrasound markers of disease in the child;
  • presence of chromosomal diseases, or other violations of the previous baby;
  • woman's age exceeding 40 years;
  • presence of genetic disorders in the immediate family;
  • complicated course of pregnancy (fetal malnutrition, polyhydramnios, the threat of miscarriage).

How to prepare?

Noninvasive prenatal diagnosis of special preparation from a pregnant woman requires.

Invasive Diagnosis requires pre-delivery smear on the flora, of ultrasound and a blood test for hepatitis, AIDS, and RVs.In addition, a few days before the survey, doctors prescribe antispasmodics, to relax the muscles of the uterus and prevent premature labor.

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