Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations. 2019

Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Zhongshan Road 321, Nanjing, 210008 China.

OBJECTIVE To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether any features of reciprocal translocation, such as carrier gender or the presence of acrocentric chromosomes or terminal breakpoints, affect meiotic segregation modes. METHODS Comprehensive chromosomal screening was performed by next generation sequencing (NGS) on 378 biopsied blastocysts from 102 PGD cycles of 89 reciprocal translocation carriers. The segregation modes of a quadrivalent in 378 blastocysts were analysed according to the carrier's gender, chromosome type and the location of chromosome breakpoints. RESULTS The results showed that 122 out of 378 blastocysts (32.3%) were normal or balanced, 209 (55.3%) were translocated chromosomal abnormalities, and 47 (12.4%) were abnormalities of non-translocated chromosomes. The proportion of translocated chromosomal abnormalities in translocations without acrocentric chromosomes was significantly higher than that in blastocysts from carriers with acrocentric chromosomes (14.8% versus 5.9%, P = 0.032). Translocation with acrocentric chromosomes exhibited a significantly higher proportion of 3:1 segregation (24.8% versus 5.1%, P < 0.0001) and a lower rate of 2:2 segregation (70.3% versus 87.0%, P = 0.00028) compared with the proportions in blastocysts from carriers without acrocentric chromosomes. The frequency of adjacent-2 segregation was significantly different in translocations with terminal breakpoints compared to the frequency in blastocysts from carriers without terminal breakpoints (6.7% versus 15.5%, P = 0.013). CONCLUSIONS This study indicates that the segregation modes in blastocysts were affected by the presence of acrocentric chromosomes and terminal breakpoints, but not by the carrier's sex. Our data may be useful for predicting the segregation pattern of a reciprocal translocation and could support genetic counselling for balanced translocation carriers for PGT cycles using blastocyst biopsy.

UI MeSH Term Description Entries

Related Publications

Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
January 2022, Frontiers in genetics,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
October 2023, Reproductive sciences (Thousand Oaks, Calif.),
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
August 2019, Fertility and sterility,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
June 2010, American journal of medical genetics. Part A,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
December 1998, Prenatal diagnosis,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
January 2012, Reproductive biomedicine online,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
May 2006, American journal of medical genetics. Part A,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
April 2007, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
December 2008, Fertility and sterility,
Jie Wang, and Dong Li, and Zhipeng Xu, and Zhenyu Diao, and Jianjun Zhou, and Fei Lin, and Ningyuan Zhang
July 2004, Prenatal diagnosis,
Copied contents to your clipboard!