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15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

J Zhang , J Li , JB Saucier , Y Feng , Y Jiang , J Sinson , AK McCombs , ES Schmitt , S Peacock , S Chen , H Dai , X Ge , G Wang , CA Shaw , H Mei , A Breman , F Xia , Y Yang , A Purgason , A Pourpak , Z Chen , X Wang , Y Wang , S Kulkarni , KW Choy , RJ Wapner , IB Van den Veyver , A Beaudet , S Parmar , LJ Wong , CM Eng

To read the full abstract: Nat Med. 2019 Mar;25(3):439447.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 inheri...

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ESPE Yearbook of Paediatric Endocrinology

15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

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