Genetic Testing In Pregnancy

Genetic Testing In Pregnancy


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Genetic Testing During Pregnancy

Future parents dream of having their baby be born healthy. However, life is composed in such a way that wishes do not always come true. In some cases, during pregnancy a woman learns about emerging threats to life and health of her child. And to blame for all is genetics.

Genetic Code

Each person is a carrier of certain genes. They are held in a set of 46 chromosomes. Genes determine the character, eye and hair color, shape of the ears. Such hereditary characteristics are transmitted from parents to a child. Sometimes, under the influence of some factors one of the chromosomes is damaged. This leads to various pathologies of development, affecting the health of the baby. To be sure that a child develops without pathologies, it is worth to make a genetic analysis during pregnancy.

Indications for Genetic Analysis

Experts advise to carry out the necessary examinations in the period of pregnancy planning. You shouldn’t procrastinate with this. Preliminary results will help to avoid possible problems during the gestation of a baby. However, statistics show that most women go to the geneticist only when necessary. Consultations are carried out mostly by referral from gynecologist. In rare cases, women are turning to geneticist on their own initiative.

Genetic analysis is carried out during pregnancy when the expectant mother is at risk. It is carried out if in the family there were cases of children born with abnormalities of development, congenital diseases or deformities. Women who have decided to give birth after 35 years are sent on the analysis. At this age, there is a great risk of genetic mutations, resulting that the baby is born defected.

Genetic analysis is recommended during pregnancy in cases where the woman for a long time drank alcohol or was dependent on drugs, medicines. Any infectious disease occurred during pregnancy is an indication for the analysis. Also, the referral is given to those women who had previously had miscarriages. Genetic analysis is recommended, if the previous pregnancy ended with the birth of a stillborn child.

Non-invasive Methods of Genetic Analysis

Genetic Testing In Pregnancy 1

Traditional (non-invasive) methods of genetic testing are:

  • blood chemistry;
  • ultrasonography.

The first ultrasound conducted at 10-14 weeks of gestation allows you to see if there are any disorders in child's development. The woman undergoes biochemical analysis of blood in the first months of pregnancy. Earlier examination allows to determine the presence of pathological changes in the body of the fetus, caused by heredity or violation of the integrity of the chromosome set. If signs of disease are found, the pregnant woman is directed to the second ultrasound. It is made at 20-24 week. Through such examination small malformations can be identified.

Invasive Methods of Genetic Analysis

Genetic analysis of the invasive methods during pregnancy is carried out in cases where after the biochemical analysis of blood and ultrasound were some suspicions about possible fetal abnormalities.

Invasive methods enabling to determine 400 pathologies are:

  • amniocentesis;
  • chorionic villus sampling;
  • cordocentesis;
  • placentocentesis.

Amniocentesis is an examination of amniotic fluid. The period of analysis is 15-18 weeks of pregnancy. Amniotic fluid obtained by the puncture of uterus with a long needle is examined. This analysis does not threaten a child's life. With chorionic biopsies cells are examined that are the foundation of the future placenta. Material for analysis is obtained through the cervix or by puncturing the abdominal cavity.

If a pregnant woman suffered an infectious disease, she is prescribed placentocentesis. The examination is conducted mainly in the second trimester after administration of anesthetic drugs. After 18 weeks of pregnancy it becomes possible to perform cordocentesis - examination of blood of umbilical cord. With the help of a puncture through the uterus the blood is taken that is sent to the genetic analysis.

Genetic analysis during pregnancy is a necessary measure, which will help to avoid many problems in the future. Do not forget that a responsible approach to the child's birth provides the baby with a sound health and a full development.

Video: Genetic Screening During Pregnancy.

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