BetaPlus Center for Reproductive Medicine, Avenija Veceslava Holjevca 23, 10 000, Zagreb, Croatia.
Division of Molecular Biology, Department of Biology, Faculty of Science, University of Zagreb, Horvatovac 102a, 10000, Zagreb, Croatia.
J Assist Reprod Genet. 2020 Jan;37(1):231-238. doi: 10.1007/s10815-019-01648-x. Epub 2019 Dec 13.
To assess the variability of meiotic segregation patterns in sperm of Robertsonian translocation (RobT) carrier t(21;22) and present effect on reproductive outcome.
Infertile couple enrolled in IVF/ICSI program. Sperm chromosomal segregation analysis was done using FISH; preimplantation genetic testing for aneuploids (PGT-A) was performed by NGS.
Patients had a low fertilization rate and a negative outcome after the first IVF/ICSI cycle, so they were advised to do chromosomal aberration analysis before their next attempt. The second IVF/ICSI procedure resulted in pregnancy, and two blastocysts were cryopreserved. The NIFTY test has shown low risk for all tested trisomies, sex chromosomes aneuploidis, and deletion syndromes, so a healthy female child was born. During pregnancy, karyotypisation results revealed that the male partner is a RobT carrier t(21;22). Sperm segregation analysis of chromosomes 21 and 22 has shown six types of sperm chromosome sets. The majority of sperm cells had a normal/balanced RobT form of a haploid set of chromosomes (68.5-76%) called an "alternate." Sperm cells that had additional chromosome 21 or 22, or lack of chromosome 21 or 22, were present in 4-12%. PGT-A performed on two cryopreserved blastocysts revealed one embryo euploid and the other with the mosaic aneuploidy of chromosome 7 present in 50% of the cells.
Infertile couples with a RobT male carrier who have semen comprising of normal/alternate form in the majority have a good prognosis of IVF/ICSI outcome. PGT is recommended because of the possible occurrence of viable trisomic embryos and potential interchromosomal effect.
评估罗伯逊易位（RobT）携带者 t（21；22）精子减数分裂分离模式的变异性，并探讨其对生殖结局的影响。
纳入接受体外受精/卵胞浆内单精子注射（IVF/ICSI）治疗的不孕夫妇。采用荧光原位杂交（FISH）技术进行精子染色体分离分析；采用下一代测序（NGS）技术进行非整倍体植入前遗传学检测（PGT-A）。
患者首次 IVF/ICSI 周期受精率低且结局不佳，因此建议在下一次尝试前进行染色体异常分析。第二次 IVF/ICSI 过程导致妊娠，并冷冻保存了两个囊胚。NIFTY 检测显示所有检测的三体、性染色体非整倍体和缺失综合征均为低风险，因此生出了一名健康女婴。在妊娠期间，核型分析结果显示男性伴侣为 RobT 携带者 t（21；22）。对染色体 21 和 22 的精子分离分析显示，有六种类型的精子染色体组。大多数精子细胞具有正常/平衡的 RobT 形式的单倍体染色体组（68.5-76%），称为“交替”。存在额外的染色体 21 或 22，或缺乏染色体 21 或 22 的精子细胞占 4-12%。对两个冷冻保存的囊胚进行 PGT-A 检测显示，一个胚胎为整倍体，另一个胚胎存在染色体 7 的镶嵌性非整倍体，占细胞的 50%。
携带 RobT 的男性不育患者，如果精液中大多数为正常/交替形式，则 IVF/ICSI 结局的预后良好。由于可能存在有活力的三体胚胎和潜在的染色体间效应，建议进行 PGT。
