Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements

Ou, Jian1; Yang, Chuanchun2; Cui, Xiaoli2; Chen, Chuan2; Ye, Suyan3; Zhang, Cai2; Wang, Kai2; Chen, Jianguo2; Zhang, Qin1; Qian, Chunfeng1; Fang, Guangguang3,4; Zhang, Wenyong5,6

2020-02-29

10.1186/s12958-020-00572-5

Reproductive Biology and Endocrinology   影响因子和分区

1477-7827

1477-7827

Background The study is aimed to provide prediction for fertility risk in the setting of assisted reproduction for a woman with complex chromosomal rearrangements (CCRs). Methods We implemented a robust approach, which combined whole-genome low-coverage mate-pair sequencing (WGL-MPS), junction-spanning PCR and preimplantation genetic testing for aneuploidy (PGT-A) method to provide accurate chromosome breakpoint junctional sequences in the embryo selection process in the setting of assisted reproduction for a couple with recurrent abortions due to CCRs. Result WGL-MPS was applied to a female carrying CCRs which consisted of 9 breakpoints and 1 cryptic deletion related to fertility risks. Sequencing data provided crucial information for designing junction-spanning PCR and PGT-A process, which was performed on the 11 embryos cultivated. One embryo was considered qualified for transplanting, which carried the exact same CCRs as the female carrier, whose phenotype was normal. The amniotic fluid was also investigated by WGL-MPS and karyotyping at 19 weeks' gestation, which verified the results that the baby carried the same CCRs. A healthy baby was born at 39 weeks' gestation by vaginal delivery. Conclusion(s) Our study illustrates the WGL-MPS approach combining with junction-spanning PCR and PGT-A is a powerful and practical method in the setting of assisted reproduction for couples with recurrent miscarriage due to chromosomal abnormalities, especially CCRs carriers.

Complex chromosomal rearrangements Breakpoints mapping Whole-genome low-coverage mate-pair sequencing Preimplantation genetic testing for aneuploidy Junction-spanning PCR

SCI

英语

通讯

Special Fund for Science and Technology Innovation and Industrial Development in Dapeng New District, Shenzhen[YL201800201]

Endocrinology & Metabolism ; Reproductive Biology

Endocrinology & Metabolism ; Reproductive Biology

WOS:000518910300001

BMC

Web of Science

1.Nanjing Med Univ, Suzhou Municipal Hosp, Affiliated Suzhou Hosp, Ctr Reprod & Genet, Suzhou 215002, Peoples R China
2.CheerLand Biol Technol Co Ltd, Shenzhen 518000, Peoples R China
3.Shenzhen Dapeng New Dist Matern & Child Hlth Hosp, Dept Gynecol, Shenzhen, Peoples R China
4.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Shenzhen, Peoples R China
5.Southern Univ Sci & Technol, CheerLand Inst Precis Med, Shenzhen, Peoples R China
6.Southern Univ Sci & Technol, Sch Med, Shenzhen, Peoples R China

Ou, Jian,Yang, Chuanchun,Cui, Xiaoli,et al. Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements[J]. Reproductive Biology and Endocrinology,2020,18(1).

Ou, Jian.,Yang, Chuanchun.,Cui, Xiaoli.,Chen, Chuan.,Ye, Suyan.,...&Zhang, Wenyong.(2020).Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements.Reproductive Biology and Endocrinology,18(1).

Ou, Jian,et al."Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements".Reproductive Biology and Endocrinology 18.1(2020).