The application of late amniocentesis: a retrospective study in a
tertiary fetal medicine center in China
Abstract
Objective: 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 China Population 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. Key words: Prenatal diagnosis;
Chromosomal-microarray-analysis; Fetal malformations; Late
amniocentesis; Exon sequencing; Third trimester