The current and future impact of genome-wide sequencing on fetal precision medicine
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REVIEW
The current and future impact of genome‑wide sequencing on fetal precision medicine Riwa Sabbagh1,3 · Ignatia B. Van den Veyver1,2,3,4 Received: 5 September 2019 / Accepted: 30 October 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019
Abstract Next-generation sequencing and other genomic technologies are transforming prenatal and reproductive screening and testing for fetal genetic disorders at an unprecedented pace. Original approaches of screening and testing for fetal genetic and genomic disorders were focused on a few more prevalent conditions that were easily diagnosable with pre-genomic era diagnostic tools. First, chromosomal microarray analysis and then next-generation sequencing brought technology capable of more detailed genomic evaluation to prenatal genetic screening and diagnosis. This has facilitated parallel introduction of a variety of new tests on maternal blood samples, including expanded carrier screening and cell-free DNA-based noninvasive screening for fetal aneuploidy, selected copy number variants, and single-gene disorders. Genomic tests on fetal DNA samples, obtained primarily through amniocentesis or chorionic villus sampling, include chromosomal microarray analysis and gene panel and exome sequencing. All these form the diagnostic pillar of the emerging field of fetal precision medicine, but their implementation is associated with ethical, counseling and healthcare resource utilization challenges. We discuss where in the reproductive and prenatal care continuum these exciting new technologies are integrated, along with associated challenges. We propose areas of priority for research to gain the data in support of their responsible implementation into clinical reproductive and prenatal care.
Introduction Until the early 2000s, in the “pre-genomic” era of prenatal genetic testing and screening (Fig. 1a), the main goal was to identify women at increased risk for children with common aneuploidies, trisomies 13, 18 and 21. Screening methods included various combinations of family history, maternal age, levels of specific maternal serum analytes and Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00439-019-02088-4) contains supplementary material, which is available to authorized users. * Ignatia B. Van den Veyver [email protected] 1
Department of Obstetrics and Gynecology, Baylor College of Medicine, 1250 Moursund Street, Room 1025.14, Houston, TX 77030, USA
2
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
3
Pavilion for Women, Texas Children’s Hospital, Houston, TX, USA
4
Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA
findings on prenatal ultrasound (ACOG 2016b). Women at increased risk were offered either chorionic villus sampling (CVS) or amniocentesis with a karyotype, and in some cases with fluorescence in situ hybridization (FISH) for rapid detection of common trisomies. Although much less frequently, if indicated base
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