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April to June 2019 | Vol. 12 | Issue 2 | Page 19-20
Nip it in the Bud: Prenatal Detection and In-utero Correction for Monogenic Disorders
Priya Ranganath, Prajnya Ranganath
Department of Medical Genetics, Nizam’s Institute of Medical Genetics, Hyderabad
Address for Correspondence Email: prajnyaranganath@gmail.com
Fetal structural anomalies are etiologically heterogeneous. The etiology can vary from chromosomal aneuploidies and copy number variations (CNVs) to single gene defects and multifactorial causes. Though chromosomal anomalies associated with fetal structural anomalies have been extensively studied through karyotyping and cytogenetic microarray, the role and utility of next generation sequencing-based genome-wide sequencing for fetal structural anomalies is relatively less understood. In their prospective cohort study, Lord et al. have recruited antenatal women ultrasonographically detected to have fetal structural anomalies from 11 weeks of gestation onwards, from 34 fetal medicine units in England and Scotland. After exclusion of chromosomal anomalies, whole exome sequencing (WES) was performed in the fetal and parental samples. Sequencing results were interpreted with a targeted virtual gene panel for developmental disorders consisting of 1628 genes. WES was done and analysed for a total number of 610 fetuses with structural anomalies and 1202 matched parental samples. A diagnostic genetic variant was identified in 52 (8·5%) of the fetuses studied and a variant of uncertain significance with potential clinical usefulness was found in an additional 24 (3·9%) fetuses. Detection of diagnostic genetic variants also helped to distinguish between syndromic and non-syndromic fetal anomalies and better prognostication. However, the overall diagnostic yield of WES in this prospectively ascertained fetal cohort with a wide range of structural anomalies was found to be lower than that found in previous smaller-scale studies of fewer phenotypes. Therefore, though WES helps in the identification of monogenic etiologies in fetuses with structural abnormalities, careful case selection is required to maximise its clinical utility.
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