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Rapid Prenatal Diagnosis Using Targeted Exome Sequencing

A Cohort Study to Assess Feasibility and Potential Impact on Prenatal Counseling and Pregnancy Management

Chandler, Natalie; Best, Sunayna; Hayward, Jane; Faravelli, Francesca; Mansour, Sahar; Kivuva, Emma; Tapon, Dagmar; Male, Alison; DeVile, Catherine; Chitty, Lyn S.

Obstetrical & Gynecological Survey: April 2019 - Volume 74 - Issue 4 - p 202–204
doi: 10.1097/01.ogx.0000554378.39321.1b

(Abstracted from Genet Med 2018;20(11):1430–1437)

Unexpected fetal abnormalities occur in 2% to 5% of pregnancies. Although traditional cytogenetic and microarray approaches achieve diagnosis in approximately 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management.

North Thames NHS Regional Genetics Service, Great Ormond Street NHS Foundation Trust (N.C., S.B., J.H., F.F., A.M., L.S.C.); South West Thames Regional Genetics Department, University of London & St George's University Hospitals NHS Foundation Trust (S.M.), London; Peninsula Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital, Exeter (E.K.); Queen Charlotte's & Chelsea Hospital, Imperial College Healthcare NHS Trust (D.T.); and Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health (C.D., L.S.C.), London, United Kingdom

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