Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non‐selective application of a MLPA‐based extended prenatal panel in routine prenatal diagnosis

Abstract excerpt

OBJECTIVE: To present the application of multiplex ligation-dependent probe amplification (MLPA)-based screening approach in 1550 typical prenatal cases, for the simultaneous targeted detection of 23 recurrent microdeletion syndromes as well as subtelomeric copy number assessment for all chromosomes and discuss the implications in routine prenatal chromosomal diagnosis (PCD). METHODS: Following amniocentesis or...

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