ESPEYB16 15 Editorsߣ Choice (1) (18 abstracts)
15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Zhang J , Li J , Saucier JB , Feng Y , Jiang Y , Sinson J , McCombs AK , Schmitt ES , Peacock S , Chen S , Dai H , Ge X , Wang G , Shaw CA , Mei H , Breman A , Xia F , Yang Y , Purgason A , Pourpak A , Chen Z , Wang X , Wang Y , Kulkarni S , Choy KW , Wapner RJ , Van den Veyver IB , Beaudet A , Parmar S , Wong LJ & Eng CM
To read the full abstract: Nat Med. 2019 Mar;25(3):439–447.
Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inherited disease-causing variants in 30 genes associated with frequent human dominant monogenic disorders.
Fetal DNA that is circulating in the blood of pregnant women is now frequently extracted noninvasively and screened to detect common fetal chromosome aneuploidies, such as trisomy of chromosome 21. But there are numerous other syndromes that are caused by single gene mutations that are not detected on routine tests.
These authors developed a next-generation DNA sequencing approach for circulating fetal DNA that can detect alterations in 30 genes that cause monogenic disorders, mostly in the FGFR3 and FGFR2 genes (causes of skeletal disorders), as well as Noonan spectrum disorders. They developed a single nucleotide polymorphism (SNP)-based fetal fraction calculation method using informative transmitted parental alleles in the fetal cfDNA present in maternal plasma. Of the 422 women tested, 151 (35.8%) had a reported abnormal prenatal ultrasound finding indicative of a fetal developmental abnormality, 3 (0.7%) had abnormal routine serum screening results, and 43 (10.2%) reported a positive family history of genetic disease. Among 151 cases with an abnormal prenatal ultrasound, 28 yielded a positive result for a de novo pathogenic or likely pathogenic variant in one of the 30 genes on the screening panel.
Overall, this new NIPS approach provides valuable molecular information on the fetus for these not uncommon dominant monogenic disorders. The findings will help guide physicians and parents regarding further evaluation and management of their pregnancy.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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