Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta‐analysis

ABSTRACT Objective To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with multisystem structural anomalies (at least two major anomalies in different anatomical systems). Method This was a systematic review conduc...

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Veröffentlicht in:	Ultrasound in obstetrics & gynecology 2022-06, Vol.59 (6), p.715-722
Hauptverfasser:	Pauta, M., Martinez‐Portilla, R. J., Borrell, A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Anomalies Diagnostic systems diagnostic yield DNA microarrays exome sequencing fetal structural anomaly Fetuses Genomes Gynecology Karyotypes Medical diagnosis Meta-analysis multisystem anomalies Obstetrics Phenotypes prenatal diagnosis Subgroups Systematic review Ultrasonic imaging
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