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Open AccessCase Report

In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report

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Origyn Fertility Center, Palace Street, no 3C, 70032 Iasi, Romania
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Department of Mother and Child Medicine, Faculty of Medicine, University of Medicine and Pharmacy “Grigore T. Popa”, University Street, no 16, 700115 Iasi, Romania
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Clinical Hospital of Obstetrics and Gynecology “Cuza Voda”, Cuza Voda Street, no 34, 700038 Iasi, Romania
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Department of Molecular Genetics, Faculty of Biology, University of “Alexandru Ioan Cuza” Carol I Avenue, 700505 Iasi, Romania
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Department of Research, Faculty of Biology, Alexandru Ioan Cuza University, Carol I Avenue, no 11, 700505 Iasi, Romania
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Regional Oncology Institute Iasi, Department of Molecular Biology, General Henri Mathias Berthelot Street, no 2-4, 700483 Iasi, Romania
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Department of Microscopic Morphology, Faculty of Medicine, University of Medicine and Pharmacy “Victor Babeș”, Eftimie Murgu Square, no 2, 300041 Timișoara, Romania
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Department of Morphofunctional Sciences, Faculty of Medicine, University of Medicine and Pharmacy “Grigore T. Popa”, University Street, no 16, 700115 Iasi, Romania
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Author to whom correspondence should be addressed.
Genes 2020, 11(6), 697; https://doi.org/10.3390/genes11060697
Received: 28 May 2020 / Revised: 18 June 2020 / Accepted: 23 June 2020 / Published: 25 June 2020
(This article belongs to the Special Issue Genetic Research in Fetal Medicine)
Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring. View Full-Text
Keywords: in vitro fertilisation; preimplantation genetic testing for monogenic diseases; congenital disorder of glycosylation type Ia in vitro fertilisation; preimplantation genetic testing for monogenic diseases; congenital disorder of glycosylation type Ia
MDPI and ACS Style

Doroftei, B.; Nemtanu, L.; Ilie, O.-D.; Simionescu, G.; Ivanov, I.; Anton, E.; Puiu, M.; Maftei, R. In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report. Genes 2020, 11, 697.

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