Aneuploidies often lead to prenatal morbidity. The presence of aneuploidies can be deciphered with the help of prenatal aneuploidy screening. Earlier, the screening was invasive; however, with the advancements in technology, the screening can now be carried out in a non-invasive manner. The indications of the test include genetic vulnerability, history of recurrent pregnancy loss, consanguineous marriage, and advanced age. Usually, multiple biochemical tests are required.
The results from these tests are combined with other factors, such as the mother’s age. The test is carried out to screen the risk of Down syndrome, trisomy 18, and open neural tube defects. A risk for one or more disorders is confirmed based on further testing. The commonly used test combinations are as follows: Nuchal translucency combined with biochemical markers (used in the first trimester) Triple Screening:…
