Application of next generation sequencing for preimplantation genetic test of 71 couples with one partner carrying a reciprocal or Robertsonian translocation.
10.3760/cma.j.issn.1003-9406.2020.05.017
- Author:
Yan YANG
1
;
Yanqiu LIU
;
Pengpeng MA
;
Jia CHEN
;
Tao DING
Author Information
1. Prenatal Diagnosis Center, Jiangxi Women and Children's Health Care Hospital, Nanchang, Jiangxi 330006, China. lyq0914@126.com.
- Publication Type:Journal Article
- MeSH:
Female;
Fertilization in Vitro;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Pregnancy;
Preimplantation Diagnosis;
methods;
Translocation, Genetic
- From:
Chinese Journal of Medical Genetics
2020;37(5):563-566
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of preimplantation genetic test (PGT) based on next generation sequencing (NGS) for achieving pregnancy for 71 couples with one partner carrying a reciprocal or Robertsonian translocation.
METHODS:Following blastocyst biopsy, whole genome of single cell was amplified, and PGT was performed by NGS. The subjects included 60 couples with one partner carrying a reciprocal translocation and 11 with one partner carrying a Robertsonian translocation. The results of PGT, implantation and prenatal diagnosis for all of the couples were analyzed.
RESULTS:In total 301 embryos were obtained for the 71 couples through 92 ovulation cycles, 287 (95.3%) of which were successfully diagnosed by NGS. Eighty-five euploidy embryos were identified for the reciprocal translocation carrier group. In 18 cycles, no euploid embryo was obtained. Cancellation rate for the cycles was 19.5%. For reciprocal translocation carrier group and Robertsonian translocation carrier group, the rates for implantation, early abortion, and clinical pregnancy were 89.3% (42/47), 25.5% (12/47), 63.8% (30/47), and 88.8% (8/9), 22.2% (2/9), and 66.6% (6/9), respectively. The result of prenatal diagnosis was consistent with the that of PGT.
CONCLUSION:PGT based on NGS can effectively identify euploid embryos and reduce recurrent abortions and termination of pregnancies, achieving a satisfactory rate for clinical pregnancy.
