Pregnancy screening tests do not exclusively look for Down syndrome, and they usually include a number of other conditions. Some conditions commonly included in the prenatal screening panel include:
- Trisomy 18
- Trisomy 13
- Trisomy 16
- Trisomy 22
- Sex chromosome aneuploidy, such as Turner syndrome and Klinefelter’s syndrome (47, XXY)
- Certain disorders caused by a chromosomal deletion (microdeletion syndrome), such as Prader-Willi syndrome and Jacobsen syndrome
- Certain single-gene disorders associated with abnormalities of the skeleton or bones, such as sickle cell disease and cystic fibrosis
Therefore, we will give a basic overview of a few conditions commonly included in the non-invasive prenatal screening panel and also address some outdated information related to those conditions to emphasize the importance of staying up-to-date about all conditions.
Keep in mind that the American College of Medical Genetics and Genomics does not recommend NIPS to screen for autosomal aneuploidies other than those involving chromosomes 13, 18, and 21, and ACMG advises clinicians to inform patients that there are increased chances for false-positive results for the other conditions caused by sex chromosome aneuploidies and copy number variants (CNVs).
Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013;15(5):395–398