July 13th, 2020

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Detection of Chromosome Abnormalities in Early Spontaneous Miscarriages: A Comparison Between G-Banding Karyotyping and Chromosomal Microarray Analysis
Authors:  Jieping Song, M.D., Fei Yu, M.D., Mingxia Xie, M.D., Bo Wang, M.D., and Chuanjun Zeng, M.D.
  OBJECTIVE: To compare conventional G-banding karyotyping and chromosomal microarray analysis (CMA) techniques for the detection of chromosomal abnormalities in early spontaneous miscarriages.

STUDY DESIGN: A total of 1,000 prenatal samples were processed in parallel using both CMA and G-banding for conventional karyotyping. Chorionic villus cells were isolated from the chorionic villus sampling, cultured in vitro, and analyzed using G-banding karyotyping.

RESULTS: Chromosome abnormalities were detected in 558 specimens (55.8%), of which 341 samples (61.1%, 341/558) were numerical chromosomal abnormalities, 112 (20.1%, 112/558) were structural anomalies, and 105 (18.8%, 105/558) were mosaicisms. The overall success rate of CMA in detecting chromosomal abnormalities was 100%. However, only 77.6% of chromosomal abnormalities were detected by G-banding.

CONCLUSION: CMA has a higher detection rate of chromosomal abnormalities than does G-banding karyotyping and should be used as a first-line test in patients with early spontaneous miscarriages.
Keywords:  chorionic villus samples, chromosomal abnormalities, chromosomal microarray analysis, chromosome banding, early pregnancy loss, G-banding, Giemsa banding, karyotype analysis methods, karyotyping, miscarriage, molecular karyotyping, pregnancy, pregnancy complications, spontaneous abortion, spontaneous miscarriage
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