Biren Patel1, Jan L B Byrne2, Amber Phillips3, James M Hotaling4, Erica B Johnstone2. 1. Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah. Electronic address: birenvpatel@gmail.com. 2. Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah. 3. Genetic Counseling, University of Utah, Salt Lake City, Utah. 4. Surgery, University of Utah, Salt Lake City, Utah.
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.
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.