Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis
Prenatal Diagnosis2022Vol. 42(6), pp. 662–685
Citations Over TimeTop 1% of 2022 papers
Abstract
Prenatal ES provides a diagnosis in an additional 31% of structurally abnormal fetuses when CMA/karyotype is non-diagnostic. The expected diagnostic yield depends on the body system(s) affected and can be optimised by pre-selection of cases following multi-disciplinary review to determine that a monogenic cause is likely.
Related Papers
- The karyotypes of Hapalogenys nitens (Richardson and H. Mucronatus (Eydoux et Souleyet)(1994)
- Spectral karyotyping reveals a comprehensive karyotype in an adult acute lymphoblastic leukemia.(2012)
- Clinical and chromosomal karyotype analysis in Turner syndrome(2007)
- Karyotype analysis of bananas with different genotypes(2013)
- Analysis on karyotype of Galega orientalis cv. Xinyin No.1(2009)