Genetic Screening Tests During Pregnancy

During pregnancy, a variety of tests are conducted to ensure the health of both the mother and the fetus. Among these, genetic tests are particularly important. These tests provide valuable information about the fetus and predict the likelihood of genetic diseases or congenital abnormalities.

Socuta highlights the most important genetic tests during pregnancy:

Sequential Screening

Test Period: First trimester

This screening consists of two blood tests and an ultrasound. The first blood test and ultrasound are performed between the 11th and 13th weeks of pregnancy, followed by a second blood test between the 15th and 18th weeks. This test detects abnormalities in the levels of hormones and proteins produced during pregnancy, indicating the potential presence of genetic disorders in the fetus.

Key Proteins:

• Pregnancy-Associated Plasma Protein A (PAPP-A): Low levels may indicate neural tube defects.
• Alpha-Fetoprotein (AFP): Abnormal levels suggest congenital abnormalities.
• Estriol: Risks include Down syndrome and Edwards syndrome.
• Human Chorionic Gonadotropin (HCG): Elevated levels are associated with multiple pregnancy complications.

Integrated Screening

Test Period: First and second trimesters

Similar to sequential screening in components and timing, but results are provided after the second test. This method is more accurate and detects genetic disorders such as Down syndrome and Edwards syndrome.

Cell-Free Fetal DNA Testing

Test Period: After the 10th week of pregnancy

This test analyzes fragments of fetal DNA that are free in the mother’s blood, helping to predict genetic disorders.

Quad Screening

Test Period: Second trimester

This test analyzes the mother’s blood to determine the levels of four hormones, predicting genetic disorders.

Chorionic Villus Sampling (CVS) and Amniocentesis

Test Period: First and second trimesters

These tests diagnose genetic diseases by analyzing fetal genes and amniotic fluid.

It is important to note that these tests carry some risks, and it is essential to discuss them with your doctor before proceeding with any screening.