3 Main Types of Pregnancy Genetic Screening Tests

When most couples receive news that they are pregnant, it is often difficult to hide the excitement. However, the excitement should not cover the fact that pregnancy needs careful monitoring to ensure the healthy development of a baby in the womb. Genetic screening is one way parents can take a closer look at their baby's health. Although genetic screening is optional, it helps couples make informed health decisions and even know what to expect once their baby is born. This article highlights crucial genetic screening tests which pregnant partners should take. 

Sequential Genetic Screening -- This is the first type of test that pregnant couples take because it is conducted early in the first trimester. Typically, sequential screening uses two blood test results to tell you more about your developing baby. It means that blood samples are drawn in two parts, with the second sample designed to confirm the first test results. Sequential screening is specifically designed to test the risk of Down syndrome and neural tube defects. However, sequential screening can give false positives. Therefore, while the results might show that your baby is at risk of Down syndrome, it is not a foregone conclusion. Consequently, it is advisable to go for further testing. 

Integrated Screening -- This screening is also conducted during the first trimester and is meant to establish whether a child is at risk of congenital disabilities. Doctors often advise pregnant couples to undergo integrated genetic screening after sequential screening to confirm possible false positives. Evaluations done during integrated screening include nuchal translucency tests and first-trimester blood tests. The nuchal translucency test relies on ultrasound images to measure a baby's neck thickness for early signs of congenital disabilities. First-trimester blood tests measure the levels of beta-human gonadotropin and pregnancy-associated plasma proteins (PAPP-A). High levels of the two substances in the blood indicate that your baby is likely to have a birth defect. In contrast, low levels suggest that your baby has a low risk of birth defects.  

Cell-Free Fetal DNA Testing -- The type of genetic screening is also known as noninvasive prenatal screening. Its purpose is to screen for chromosome problems in a developing fetus. To conduct the test, a lab technician draws maternal blood and extracts fetal blood from the sample. Fetal blood is then screened for specific chromosomal abnormalities that cause defects, such as trisomy 13 and trisomy 18. It is recommended that couples first seek a genetic counsellor's advice to discuss and understand better the benefits of prenatal cell-free DNA screening. 



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