Retrospective analysis of 4761 cases who underwent amniocentesis in southeast China

AbstractThe aim of this study was to examine the clinical and cytogenetic results of 4761 amniocentesis (AS) cases retrospectively in our clinic in southeast China. The prenatal diagnosis indications, detected chromosomal anomalies and the detection rate of chromosomal abnormalities were studied in 4761 patients who underwent AS between June 2014 and July 2016 retrospectively. Chromosomal abnormality was detected in 137 (2.88%) of the 4761 samples (89.1% numerical, 10.9% structural). The most frequent numerical chromosomal abnormality was trisomy 21 (59.0%). Clinically insignificant polymorphisms were the most frequent structural changes (n = 284). In our study, the frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications.Impact statementWhat is already known on this subject: Several studies on amniocentesis indications and results have been reported from China and from other countries. It has been known that the most common indications were the increas...