Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.

Autor:	Schlade-Bartusiak K; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada., Strong E; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada., Zhu O; Pacific Center for Reproductive Medicine, Burnaby, British Columbia, Canada., Mackie J; Pacific Center for Reproductive Medicine, Burnaby, British Columbia, Canada., Salema D; Pacific Center for Reproductive Medicine, Burnaby, British Columbia, Canada., Volodarsky M; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Roberts J; Pacific Center for Reproductive Medicine, Burnaby, British Columbia, Canada., Steinraths M; Department of Medical Genetics, University of British Columbia, Victoria, British Columbia, Canada.
Jazyk:	angličtina
Zdroj:	F&S reports [F S Rep] 2022 May 10; Vol. 3 (3), pp. 192-197. Date of Electronic Publication: 2022 May 10 (Print Publication: 2022).
DOI:	10.1016/j.xfre.2022.05.003
Abstrakt:	Objective: To inform clinicians of the first known case of a live born diagnosed with syndromic partial trisomy 15 and maternal uniparental disomy 15 resulting from a mosaic embryo transfer (MET). We believe that this case will highlight the need for standardized practice guidelines to address the potential risk of MET and the importance of prenatal follow-up after a pregnancy is achieved from a MET. Design: Case report. Setting: In vitro fertilization with preimplantation genetic testing for aneuploidy (PGT-A) and MET was completed at a fertility clinic in Canada. Postnatal testing and diagnosis were performed at the Medical Genetics Department of a hospital in Canada. Patients: A newborn male with a diagnosis of partial trisomy 15 and uniparental disomy (UPD) 15. Interventions: Mosaic embryo transfer after PGT-A was performed. Diagnostic testing performed after birth included a karyotype, fluorescence in situ hybridization analysis, chromosomal microarray, and microsatellite UPD testing. Main Outcome Measures: Confirmed nonmosaic partial aneuploidy of trisomy 15 and UPD15 in a symptomatic newborn conceived from MET. Results: Singleton pregnancy was achieved after a double embryo transfer involving 1 embryo diagnosed by PGT-A with high-level mosaic trisomy 15 and high-level mosaic deletion on chromosome 20 (mos(del(20)(q11.23-qter)). Routine prenatal screening and detailed fetal ultrasound did not identify any concerns. Postnatal genetic investigations, triggered by feeding difficulties in the newborn period, diagnosed the proband with maternal UPD15 and a supernumerary marker chromosome composed of 2 noncontiguous regions of chromosome 15. This karyotype is likely resulting from incomplete trisomy rescue occurring on the paternal chromosome 15. Conclusions: This case highlights the need for better guidelines and management of pregnancies achieved after MET. (© 2022 The Author(s).)
Databáze:	MEDLINE
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