The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China

• Published in: BMC pregnancy and childbirth Vol. 21; no. 1; p. 266
• Main Authors: Li, Yingting, Yan, Huanchen, Chen, Jingsi, Chen, Fei, Jian, Wei, Wang, Jiayan, Ye, Xiaoqing, Li, Yufan, Li, Nan, Chiu, Philip C N, Chen, Min
• Format: Journal Article
• Language: English
• Published: England BioMed Central 30-03-2021; BMC
• Subjects: Amniocentesis; Amniotic fluid; Chromosomal microarray analysis; Chromosomes; Deoxyribonucleic acid; Disease; DNA; Family medical history; Fetal abnormalities; Fetuses; Genetic disorders; Genomes; Hospitals; Late amniocentesis; Medical diagnosis; Medicine; Mutation; Patients; Pregnancy; Premature birth; Prenatal diagnosis; Software; Third trimester; Ultrasonic imaging; Whole-exome sequencing; Womens health; United States > US; China; Germany; Chromosomal microarray analysis; Third trimester; Prenatal diagnosis; Fetal abnormalities; Whole-exome sequencing; Late amniocentesis
• ISSN: 1471-2393; 1471-2393
• DOI: 10.1186/s12884-021-03723-7

To assess the indications and complications of late amniocentesis and the advanced genetic test results in a tertiary university fetal medical medicine unit.
In this retrospective study, women that underwent amniocentesis at 24
to 39
weeks, between January 2014 and December 2019, were recruited. Indications, complications, genetic test results, and pregnancy outcomes were reported for each pregnancy and compared with those who underwent the traditional amniocentesis at 16
to 23
weeks (control group). Information was retrieved from patient medical records, checked by research staff, and analyzed.
Of the 1287 women (1321 fetuses) included in the late amniocentesis group, late detected sonographic abnormalities (85.5%) were the most common indication. The overall incidence of preterm birth and intrauterine demise after amniocentesis were 2.5 and 1.3%, respectively. Sixty-nine fetuses with aneuploidy (5.3%) and seventy-two fetuses with pathogenic copy number variations (5.5%) were identified by chromosomal microarray analysis. The maximal diagnostic yield (70%) was in the subgroup of fetuses with the abnormal diagnostic test results, followed by abnormal NIPT results (35.7%) and multiple abnormalities (23.8%). And 35.4% of the pregnancies were finally terminated.
Due to the high detection rates of advanced genetic technologies and the safety of the invasive procedure (3.9% vs 4.0%), it is reasonable to recommend late amniocentesis as an effective and reliable method to detect late-onset fetal abnormalities. However, chromosomal microarray and whole-exome sequencing may result in uncertain results like variants of uncertain significance. Comprehensive genetic counseling is necessary.