Non-invasive prenatal testing can help spot rare single gene disorders

A non-invasive prenatal test designed to help detect dominant disorders with a combined population incidence of 1 in 600 can help in early detection, according to a study.

A total of 2208 women underwent non-invasive prenatal testing for a panel of dominant disorders including Noonan spectrum disorders, skeletal disorders, craniosynostosis syndromes, Cornelia de Lange syndrome (CdLS), Alagille syndrome, tuberous sclerosis, epileptic encephalopathy, SYNGAP1 related intellectual disability, CHARGE syndrome, Sotos syndrome and Rett syndrome.

Overall, 5.7% (n = 125) of women tested positive; of the 65 women with follow-up information available, none were classified as false-positive. A family history of a disorder on the panel, a primary indication of fetal long bone abnormality, fetal craniofacial abnormalities, fetal lymphatic abnormalities, and major fetal cardiac defects were linked with higher positive rates.

“Non-invasive prenatal testing can assist in the early detection of a set of single gene disorders, particularly when either abnormal ultrasound findings or a family history is present,” the authors concluded.

Reference
Mohan P, Lemoine J, Trotter C, et al. Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD). Ultrasound Obstet Gynecol. 2021 Aug 6. doi: 10.1002/uog.23756. Epub ahead of print. PMID: 34358384.