desire to give birth to a healthy child - a natural dream of any woman.If this need to pass certain tests and analyzes, every pregnant woman, consciously relating to their health and the health of the unborn child, agree to this.
content of the article:
- How do genetic analysis
- methods of genetic analysis in pregnancy
- blood test for pregnancy genetics
What includesthe concept of genetic analysis in pregnancy?Genetic analysis of pregnancy is carried out to detect the pathology fetal development and to assess the probability of the birth of the child, whose genetic material is damaged and will lead to the manifestation of a genetic disease.
How do genetic analysis
Genetic analysis during pregnancy involves several steps:
- • Collection of medical information about the health of the parents, their age, the existence for them and their relatives, and other hereditary diseases, the dataabout previous pregnancies, miscarriages and complications of pregnancy, thepresence of risk factors and adverse conditions of life, past infectious diseases of medication during pregnancy.
- • Determining the degree of risk of genetic abnormalities in the fetus on the basis of the material collected and the confirmation of his blood test results.
- • Definition of risk categories - low (risk of hereditary defects of less than 10%), medium (10 - 20%) and high (over 20%).Based on these women are either group is the risk or risk.
- • The final diagnosis of genetic disease in the fetus.
Membership expectant mother to a group defines a set of tests for fetal malformation during pregnancy.However, there is a list of routine inspections, mandatory for every woman.
methods of genetic analysis in pregnancy
Among the methods of analyzes on genetics during pregnancy should be made two crucial areas: screening methods to determine a level of risk, and proper diagnostic tests.
to conventional or non-invasive screening methods for genetic testing include analysis of the mother's blood for the study of DNA samples of the child and ultrasound (US) mother.
analyzes conducted during pregnancy from 10 to 20 weeks, there is no danger to life and health of the child, these checks do not represent.
the first time US woman held with the duration of pregnancy in 10 - 14 weeks, next time - 20 - 24 weeks.With the study found, even small defects.
to their own diagnostic or invasive methods of analysis, which can be diagnosed by means of 400 different developmental defects include:
- • Amniocentesis - analysis of amniotic fluid, is conducted for a period of 15 - 18 weeks.
- • Chorionic villus sampling - the study of cells that form the placenta, the period of 10 - 12 weeks.
- • cordocentesis - the analysis of cord blood after 18 weeks.
- • Platsentotsentez - the study of cellular structures are subject to the placenta, 16 - 20 weeks.
The resulting material is used for cytogenetic studies of chromosomes in the fetus to identify a variety of chromosomal changes, as well as determine the baby's sex.Biochemical and molecular genetic studies allow detection of genetic defects that are not associated with a consistent set of chromosomes of the fetus.
invasive diagnostic methods resorted to only in cases where there are any doubts and want to clarify details about the presence of disease in the fetus.
conducted in the period between 9 and 24 weeks of pregnancy.Show virtually 100% accuracy confirm the assumption of a defect.In these kinds of analyzes there is a risk of miscarriage, which ranges from 1 to 4% of cases.
blood test for pregnancy genetics
content of certain proteins in the blood, alpha-fetoprotein, human chorionic gonadotropin and estriol, is subject to change depending on the stage of pregnancy.A relationship between the level of these substances and various disorders of the fetus, such as Down's syndrome, Edwards syndrome, Turner, congenital heart disease, intrauterine infection of the fetus, neural tube defects, abnormalities of the kidneys and other hereditary disorders.
If during the "triple screening" (determining the level of hormones: alpha-fetoprotein, human chorionic gonadotropin and estriol) have been identified abnormalities in up or down, the woman appointed to do invasive genetic analysis to establish the exact nature of the violation.
Genetic analysis of pregnant women reveals many different severe genetic diseases such as Tay Sachs disease, cystic fibrosis, Patau syndrome, Gaucher's disease, thalassemia, and many others.