Corresponding author:
Min
Chen,
Department of Prenatal Diagnosis and Fetal Medicine, the Third
Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150,
China
Telephone: +8618926230322
Email:
18926230322@189.cn
Running Title: Yield of genomic technology in late
amniocentesis
AbstractObjective:
To
assess the indications and complications of late amniocentesis, as well
as the advantagement of advanced genetic test results.Design: Retrospective analysis of case notes of women who
underwent late amniocentesis.Setting: A tertiary fetal medicine center in ChinaPopulation or Sample: 1243 pregnant women (1272 fetuses) that
underwent amniocentesis at 24+0 to
39+4 weeks, between January 2014 and June 2019 in our
hospital.Methods:Indications,
complications, genetic test results and pregnancy outcomes were reported
for each pregnancy. Information was obtained from case records,
validated by research staff and analyzed by SPSS 21. Main Outcome Measures: Indications, complications, genetic test
results, and pregnancy outcomes.Results: Of the 1243 women included,
late
detected abnormal ultrasound finding(s) (88.3%) comes to be the most
common indication. PTB rate and IUD rates were 3.1% and 1.7%
separately.
Sixty-six
fetuses with aneuploidy (5.2%) and Sixty-seven others with a pathogenic
CNVs (5.3%) were identified by CMA. One pathogenic CNV (8.3%) were
reported via WES. The diagnostic yield turned to maximal (31%) in the
sub-group of fetuses with
suspected prenatal diagnosis results, following by combination of
ultrasound findings (23.1%).Conclusions: Since CMA and ES have considerable detection
rates,
it is reasonable to serve late amniocentesis as an effective and safe
method to detect fetal abnormalities or reassure parents following late
detected abnormal ultrasound findings. However, A percentage of CMA and
ES may expose uncertain results like VOUS. Therefore,
comprehensive
genetic counseling is necessary.Funding: The National Natural Science Foundation of China
(NSFC) (No. 81671470), the National Key Research and Development Program
of China (2018YFC1004104).Key words: Prenatal diagnosis;
Chromosomal-microarray-analysis;
Fetal malformations; Late amniocentesis; Exon sequencing; Third
trimester