Preimplantation genetic testing of 46,XY,t(1;18;9)(p34.1;q12.2;q32) with complex chromosome rearrangement carrier
10.3760/cma.j.cn101441-20230802-00056
- VernacularTitle:46,XY,t(1;18;9)(p34.1;q12.2;q32)复杂性染色体重排携带者的胚胎植入前遗传学检测
- Author:
Genbao XING
1
;
Jia CHEN
1
;
Lifeng TIAN
1
Author Information
1. 江西省妇幼保健院生殖医学中心，南昌 330038
- Publication Type:Journal Article
- Keywords:
Complex chromosome rearrangements;
Recurrent miscarriage;
Preimplantation genetic testing
- From:
Chinese Journal of Reproduction and Contraception
2024;44(4):409-412
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To detect the availability of the preimplantation genetic testing (PGT) in carriers of complex chromosome rearrangements (CCRs) for assisting reproduction.Methods:A couple with CCRs was treated by controlled hyperstimulation, intracytoplasmic sperm injection, blastocyst biopsy and next generation sequencing (NGS) for PGT assisting reproduction.Results:The couple underwent 1 PGT cycle, 27 oocytes were obtained and 7 blastocysts were suitable for biopsy. NGS showed that there were 3 normal/balanced blastocysts and 4 abnormal blastocysts in the detection range. One normal/balanced blastocyst was used in frozen-thawed embryo transfer. Then the pregnancy was successful, and a male child was born at term. The fetal chromosome examination showed 46,XY with normal karyotype.Conclusion:CCRs carriers have a high abnormal gamete rate and a high risk of miscarriage. PGT can screen embryos and reduce the risk of spontaneous miscarriage, which is a strategy to assist the treatment of fertility problems in CCRs carriers.
