Get to know us how Diagnosis of genetic diseases in the fetus during pregnancy To check in advance for any genetic disorders or affected genes that can be transmitted to the fetus, so follow with us, dear reader, the following article to find out.

Genetic diseases in the fetus

Genetic diseases are congenital disorders in which a child is born, which may be the result of a chromosomal problem or another genetic or environmental problem, so genes affected by the problem are transmitted from parents to the fetus and the disorder appears on the child, according to the Center for Disease Control and Prevention (CDC)Center for Disease ControlAbout 3% of children are born with genetic diseases.

Therefore, pregnant women usually resort to conducting some examinations and diagnostic tests to verify that the fetus has any health condition while it is in the womb, in addition to that some genetic tests can be performed before pregnancy also to examine the genes of the father and mother and check the chances of the fetus contracting any genetic diseases.

How to diagnose genetic diseases in the fetus during pregnancy

Some tests are available that help diagnose genetic diseases in the fetus as soon as pregnancy takes place, i.e. during the first trimester, to examine the genes of the fetus, and they include the following:

Serial examination

This scan takes place between the 10th and 13th week of pregnancy, and uses a combination of an ultrasound scan and blood tests to check the fetus’s risk of Down’s syndrome, spine and brain problems.

Integrated examination

It is more accurate than a serial examination and can be performed at approximately 12 weeks of pregnancy. It is also used to ensure that the fetus does not have Down syndrome or problems with the spine and brain, but this test takes more time to obtain results.

Fetal DNA test

Cell-free fetal DNA testing is done about 10 weeks after conception to check if the fetus has Down syndrome, trisomy 18 (commonly known as Edwards syndrome) or some other chromosomal problem.

Diagnosis of genetic diseases in the fetus in the second trimester of pregnancy

After knowing how to diagnose genetic diseases in the fetus during pregnancy in the first trimester, and even if the results are negative, the doctor may perform some other tests in the second trimester of pregnancy to ensure the safety of the fetus, including the following:

• Maternal serum quad screen, which is a test that checks for proteins in the mother’s blood that can increase the baby’s risk of genetic diseases, and is performed between the 15th and 21st week of pregnancy.
• The integrated scan that is performed again between the 16th and 18th week of pregnancy.
• Ultrasound examination that is performed in the 20th week of pregnancy, and is used to check for birth defects of the fetus.

Fetal diagnostic tests

After knowing how to diagnose genetic diseases in the fetus during pregnancy, in the case of positive results, the doctor can perform more diagnostic tests to ensure that the fetus has genetic problems and defects, including the following:

Chorionic villi examination

Chorionic villus sampling is performed (CVS) by taking small pieces of the placenta called chorionic villi, which are screened for genetic disorders in general.

Amniocentesis

Amniocentesis is performed by collecting a small amount of amniotic fluid surrounding the baby and testing it to determine levels of proteins in the baby that indicate certain birth defects.

And in the end, dear reader, after you got to know how Diagnosis of genetic diseases in the fetus during pregnancy In detail, we hope that we have answered all your questions regarding this topic, and we wish you good health and wellness.