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

We present a case of a patient with genetic mosaicism for campomelic dysplasia undergoing fertility treatment over a course of 7 years.

Volume 110, Issue 4, Pages 732–736


Biren Patel, M.D., Jan L.B. Byrne, M.D., Amber Phillips, M.S., James M. Hotaling, M.D., Erica B. Johnstone, M.D.



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).


Case report.




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.


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.


Only one of the five euploid embryos was identified as disease free.


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.

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