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.