When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism.

Abstract:

OBJECTIVE:To report a rare case of somatic mosaicism with a germline component of campomelic dysplasia in a woman undergoing in vitro fertilization with preimplantation genetic diagnosis (IVF-PGD). DESIGN:Case report. SETTING:Clinic. PATIENT(S):A 28-year old G2P0110 and her 34-year old husband had two previous pregnancies complicated by fetal campomelic dysplasia with suspected germline mosaic mutation. The couple, both phenotypically normal, underwent IVF-PGD to reduce their chances of transmission. None of the embryos could initially be determined to be disease free, because all embryos shared either a maternal or a paternal short tandem repeat haplotype with the products of conception from her last pregnancy. INTERVENTION(S):Peripheral-blood cytogenomic single-nucleotide polymorphism (SNP) microarray to identify the carrier of the mutation, and IVF-PGD to identify the disease-free embryo. MAIN OUTCOME MEASURE(S):Disease-free embryo. RESULT(S):Only one of the five euploid embryos was identified as disease free. CONCLUSION(S):A woman with suspected germline mosaicism for campomelic dysplasia was found to be a somatic mosaic with a germline component via a peripheral blood SNP microarray test. This identified her solitary disease-free embryo, which was transferred to her uterus but did not result in a viable pregnancy.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Patel B,Byrne JLB,Phillips A,Hotaling JM,Johnstone EB

doi

10.1016/j.fertnstert.2018.05.002

subject

Has Abstract

pub_date

2018-09-01 00:00:00

pages

732-736

issue

4

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(18)30398-4

journal_volume

110

pub_type

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