Repeated pregnancy losses with multiple aneuploidies and major genomic imbalance:A case report  

作　　者：Shailesh Pande Shiny Babu Harshavardhan Gawde Neha Minde 

机构地区：[1]Genetic Research Center,ICMR-National Institute for Research in Reproductive and Child Health,Jehangir Merwanji Street,Parel,Mumbai-400012,India

出　　处：《Asian pacific Journal of Reproduction》2024年第3期143-146,共4页亚太生殖杂志（英文版）

基　　金：support from ICMR-National Institute for Research in Reproductive Health(ICMR-NIRRH).

摘　　要：Rationale:If one of the partners is having balanced autosomal translocation,it is usually observed that the offspring inherit either normal chromosomes,balanced translocation identical to one of the parent or unbalanced chromosomal rearrangements of the same parental chromosome having translocation.Concern:A unique case presented with history of 8 miscarriages for genetic counseling.The last abortus material evaluation showed monosomy of chromosome X(Turner syndrome)in all the analyzed cells.There was a history of infertility and also repeated second trimester abortions on the paternal side.On the maternal side,there was a history of intellectual disability.Diagnose:History of repeated abnormal pregnancy outcomes.Wife’s karyotype is normal;however,husband shows translocation between chromosome 4 and 22.Intervention:Peripheral blood sample around 3 mL was collected for karyotype.Embryo biopsy was done and DNA was extracted and processed for whole exome sequencing.Outcomes:Wife’s karyotype is normal and husband has translocation between chromosome 4 and 22.Surprisingly,the entire pregnancy outcome including embryo screening has different,complete or partial aneuploidies of chromosomes other than chromosome 4 and 22.Main lesson:Though the translocation in one of the parent is balanced,we have to think beyond traditional ways for evaluating a couple with repeated pregnancy loss as we cannot predict the errors at cell division.Option of in vitro fertilization and preimplantation genetic diagnosis in couples having balanced translocations should be discussed so that early intervention can prevent the agony of pregnancy loss.

关 键 词：In vitro fertilization KARYOTYPE Products of conception Preimplantation genetic testing PGT Recurrent pregnancy loss 

分 类 号：R714[医药卫生—妇产科学]