Conclusion:
Within the context of
modern genetic technologies, late
amniocentesis is a reasonable procedure, while late ultrasound findings
are
identified.
The following reasons support it to be regarded as a quick and helpful
tool to help pregnant women after 24 gestational weeks. Firstly,
patients can gain their genetic results in a median of 10 workdays, and
enough time would be provided for them to make a decision of the
pregnancy. Secondly, the diagnostic
yield of modern genetic
technologies (CMA and ES) is much higher than that of traditional
karyotype. In cases with normal CMA results and abnormal ultrasound
findings, exome sequencing should be considered.
Alternatively,
the
diagnostic yield turns to maximal
when suspected prenatal diagnosis results become the indication of late
amniocentesis, following by
Combination of ultrasound
findings. The risk of PTB and IUD should be taken into account with the
presence of abnormal ultrasound findings.
Before late amniocentesis,
comprehensive genetic counseling is
necessary to consist of the patients’ expectations from the genetic
test, its potential risk and limitations, as well as probable outcomes
such as results that are uninterpretable or received post-delivery.Acknowledgments:
We thank all participants and their families for their assistance.
We also wish to thank the Fetal Medicine team for their dedication and
professionalism in facilitating the performance of this study.
The work was supported by the National Natural Science Foundation of
China (NSFC) (No. 81671470), and the National Key Research and
Development Program of China (2018YFC1004104).
Disclosure of Interests: The authors report no conflicts of
interest.