Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence

ConclusionThese five cases further demonstrated the necessity to pursue follow ‐up cytogenetic analysis to characterize mosaic patterns and structural abnormalities involving sex chromosomes and their value for prenatal genetic counseling. A workflow showing the performance of current NIPS and cytogenetic analysis for SCA was summarized. These results could facilitate an evi dence‐based approach to guide prenatal diagnosis of SCA.

Source: Molecular Genetics & Genomic Medicine - May 7, 2020 Category: Genetics & Stem Cells Authors: Xiaolei Xie, Weihe Tan, Fuguang Li, Eric Carrano, Paola Ramirez, Autumn DiAdamo, Brittany Grommisch, Katherine Amato, Hongyan Chai, Jiadi Wen, Peining Li Tags: REVIEW ARTICLE Source Type: research