Detecting trisomy in products of conception from first-trimester spontaneous miscarriages by next-generation sequencing (NGS).

ABSTRACT: Miscarriage is the spontaneous loss of a clinically established intrauterine pregnancy before the fetus has reached viability. In order to compare the performance of traditional G banding karyotyping with next-generation sequencing (NGS) for detecting common trisomies in products of conception (POC). Chromosome abnormalities were detected by high-resolution G banding karyotyping and NGS. A total of 48 miscarriage samples, including 20 samples without karyotype result and 28 with karyotype results were selected and coded for analysis by NGS. The multiplex PCR analysis of maternal and miscarriage DNA for single nucleotide polymorphism (SNP) markers were used to simultaneously monitor maternal cell contamination (MCC), chromosomal status, and sex of the miscarriage tissue. NGS detection resul

SUBMITTER: Xu J 

PROVIDER: S-EPMC7004681 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature