Double marker testing in pregnancy

Studies indicate that birth defects can be present in nearly one in twenty pregnancies. Birth defects can range from physical abnormalities to mental retardation. Prenatal screening is a commonly used tool by physicians to ascertain the risk of such inherited disorders. These prenatal screening tests are often non-invasive and can be done in a matter of minutes. The results of these tests are correlated with ultrasound markers like Nuchal translucency (NT), Nasal Bone (NB), and Doppler measurements before arriving at a relevant clinical decision.

The screening including these biochemical markers is usually done during the first trimester of pregnancy and includes checking the below parameters, which are collectively called the “double markers”: free beta-human chorionic gonadotrophin (beta-hCG), and pregnancy-associated plasma protein-A (PAPP-A). High beta-hCG and low PAPP-A are strong indicators of chromosomal abnormalities in the fetus.

In a typical pregnancy, there will be 23 pairs of chromosomes in the fetus. A trisomy is a chromosomal condition in which there are extra chromosomes, such as the following:

?? Down syndrome.?This common trisomy is also referred to as trisomy 21 because there’s an extra copy of chromosome 21. characterized by distorted facial features, heart defects, and mental retardation.

? Trisomy 18.?Involve an extra copy of chromosome 18 (Edward’s syndrome). Major causes of death are apnea and heart abnormalities.

? Trisomy 13.?Trisomy of chromosome 13 (Patau’s syndrome). Cardiopulmonary complications are the most common cause of death.

The screening is recommended if the woman is over 35 or has an elevated risk of chromosomal issues, such as a family history of certain conditions.

We have these tests available in our Kryptor compact series.