One Healthy Live Birth After Preimplantation Genetic Testing of a Cryptic Balanced Translocation (9;13) in a Family with Cerebral Palsy and Glaucoma: a Case Report

Overview

Journal BMC Med Genomics

Publisher Biomed Central

Specialty Genetics

Date 2021 Mar 18

PMID 33731094

Citations 2

Authors

Xiliang Wang

Changsheng Wu

Dongmei Hao

Jinyan Zhang

Chang Tan

De-Hua Cheng

Jia Fei

Yuexin Yu

Affiliations

Soon will be listed here.

Abstract

Background: Cryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can be used to help carriers of balanced translocations give birth to healthy offspring; however, for carriers of cryptic balanced translocations, there is only one report about trying assisted reproduction using the PGT technique but with no pregnancy.

Case Presentation: A couple had 3 births out of 4 pregnancies, and all died very young, with two of them having both cerebral palsy and glaucoma. The husband with oligoasthenospermia was found to be a cryptic balanced translocation carrier for t (9,13) (p24.3, q31.3) with G-banding, FISH (fluorescence in-situ hybridization), and MicroSeq techniques; live birth of a healthy baby girl was achieved with PGT/NGS (next-generation sequencing) for the couple.

Conclusion: Here, we report for the first time a successful live birth of a healthy baby through the PGT technique for a family in which the husband is a carrier of the cryptic balanced translocation t (9,13) (p24.3, q31.3), presumably causative for cerebral palsy and glaucoma. Our study showed that the PGT/NGS technique can effectively help families with a cryptic balanced translocation have healthy offspring.

Citing Articles

Identification and interruption of inheritance of familial cryptic translocations: A case report.

Ou J, Sun J, Yang C, Ni M, Zou Q, Xing S Mol Genet Genomic Med. 2024; 12(1):e2356.

PMID: 38284442 PMC: 10795077. DOI: 10.1002/mgg3.2356.

An Incidental Detection of a Cryptic Complex Chromosome Rearrangement Found During NGS Based PGT-SR: A Case Report.

Ozer L, Aktuna S, Unsal E, Baltaci A, Baltaci V J Reprod Infertil. 2022; 23(4):303-309.

PMID: 36452189 PMC: 9674458. DOI: 10.18502/jri.v23i4.10817.

References

Cui C, Shu W, Li P . Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications. Front Cell Dev Biol. 2016; 4:89. PMC: 5011256. DOI: 10.3389/fcell.2016.00089. View

Huang C, Jiang W, Zhu Y, Li H, Lu J, Yan J . Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing. J Assist Reprod Genet. 2019; 36(11):2325-2331. PMC: 6885462. DOI: 10.1007/s10815-019-01585-9. View

Di Gregorio E, Savin E, Biamino E, Belligni E, Naretto V, DAlessandro G . Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. Mol Cytogenet. 2014; 7(1):82. PMC: 4247713. DOI: 10.1186/s13039-014-0082-7. View

Escudero T, Abdelhadi I, Sandalinas M, Munne S . Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril. 2003; 79 Suppl 3:1528-34. DOI: 10.1016/s0015-0282(03)00252-8. View

Cai Y, Ding M, Lin F, Diao Z, Zhang N, Sun H . Evaluation of preimplantation genetic testing based on next-generation sequencing for balanced reciprocal translocation carriers. Reprod Biomed Online. 2019; 38(5):669-675. DOI: 10.1016/j.rbmo.2018.12.043. View

Miller D, Adam M, Aradhya S, Biesecker L, Brothman A, Carter N . Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010; 86(5):749-64. PMC: 2869000. DOI: 10.1016/j.ajhg.2010.04.006. View

McKenzie L, Cisneros P, Torsky S, Bacino C, Buster J, Carson S . Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation products. Am J Med Genet A. 2003; 121A(1):56-9. DOI: 10.1002/ajmg.a.20159. View

Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y . Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. Gene. 2018; 655:65-70. DOI: 10.1016/j.gene.2018.02.049. View

. A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration. Nat Genet. 1996; 14(1):86-9. DOI: 10.1038/ng0996-86. View

10.

Munne S . Preimplantation genetic diagnosis of structural abnormalities. Mol Cell Endocrinol. 2001; 183 Suppl 1:S55-8. DOI: 10.1016/s0303-7207(01)00578-0. View

11.

Zegers-Hochschild F, Adamson G, Dyer S, Racowsky C, de Mouzon J, Sokol R . The International Glossary on Infertility and Fertility Care, 2017. Hum Reprod. 2017; 32(9):1786-1801. PMC: 5850297. DOI: 10.1093/humrep/dex234. View

12.

Hu L, Cheng D, Gong F, Lu C, Tan Y, Luo K . Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos. EBioMedicine. 2016; 14:139-147. PMC: 5161423. DOI: 10.1016/j.ebiom.2016.11.007. View

13.

Beyer C, Lewis A, Willats E, Mullen J . Preimplantation genetic testing using Karyomapping for a paternally inherited reciprocal translocation: a case study. J Assist Reprod Genet. 2019; 36(5):951-963. PMC: 6541696. DOI: 10.1007/s10815-019-01413-0. View

14.

Emanuel B . Molecular cytogenetics: toward dissection of the contiguous gene syndromes. Am J Hum Genet. 1988; 43(5):575-8. PMC: 1715556. View

15.

Wang J, Li D, Xu Z, Diao Z, Zhou J, Lin F . Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations. Mol Cytogenet. 2019; 12:11. PMC: 6390622. DOI: 10.1186/s13039-019-0423-7. View

16.

Shaffer L, Lupski J . Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet. 2000; 34:297-329. DOI: 10.1146/annurev.genet.34.1.297. View

17.

Ye Y, Qian Y, Xu C, Jin F . Meiotic segregation analysis of embryos from reciprocal translocation carriers in PGD cycles. Reprod Biomed Online. 2011; 24(1):83-90. DOI: 10.1016/j.rbmo.2011.08.012. View

18.

Faraut T, Mermet M, Demongeot J, Cohen O . Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet Cell Genet. 2000; 88(1-2):15-21. DOI: 10.1159/000015476. View