Role of late amniocentesis in the era of modern genomic technologies

• DOI: 10.1002/uog.20113
• Publication Date: 2018-08-30T06:21:39Z
• Authors: H. Daum; A. Ben David; M. Nadjari; S. Zenvirt; S. Helman; N. Yanai; V. Meiner; S. Yagel; A. Frumkin; S. Shkedi Rafid
• Keywords: Amniocentesis; Advanced maternal age

Traditionally, amniocentesis is performed between 17 and 23 weeks of gestation. This enables decisions regarding the course pregnancy to be made before viability. Less frequently, in third trimester. Advanced genomic technologies such as chromosomal microarray analysis (CMA) provide more detailed information about fetus compared with traditional G-banded analysis. The aim this study was assess indications for safety late amniocentesis, genetic-test results (especially context CMA technology) outcome pregnancies that underwent procedure after 24 weeks.Medical records were analyzed retrospectively all women whom at a gestational age + 0 38 6 weeks, Hadassah Medical Center, June 2013 March 2017. Parameters investigated included complications, outcome.During period, 291 (303 fetuses, 277 singleton 14 twin pregnancies; two pairs, one terminated amniocentesis) amniocentesis. instances most frequent indication abnormal sonographic finding(s) (204/303 67%). Preterm delivery occurred 1.7% 5.1% within first week 1 month following procedure, respectively. Aneuploidy detected nine (3%) fetuses others had pathogenic/likely pathogenic copy number variant, suggesting doubled diagnostic yield karyotyping. Maximal (17.5%) achieved subgroup referred findings or fetal anatomical systems. Variants uncertain significance susceptibility loci found another fetuses.In undergoing increased detection rates abnormalities shorter turnaround time analysis; therefore, may serve helpful tool detecting reassuring parents late-appearing findings. However, expose significance, which couple should precounseled. appears safe. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.