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

被引：1

作者：

Doroftei, Bogdan ^{[1
,2
,3
]}

Nemtanu, Loredana ^{[1
,4
]}

Ilie, Ovidiu-Dumitru ^{[5
]}

Simionescu, Gabriela ^{[1
,2
,3
]}

Ivanov, Iuliu ^{[1
,6
]}

Anton, Emil ^{[1
,2
,3
]}

Puiu, Maria ^{[7
]}

Maftei, Radu ^{[1
,3
,8
]}

机构：

[1] Origyn Fertil Ctr, Palace St 3C, Iasi 70032, Romania

[2] Univ Med & Pharm Grigore T Popa, Fac Med, Dept Mother & Child Med, Univ St 16, Iasi 700115, Romania

[3] Clin Hosp Obstet & Gynecol Cuza Voda, Cuza Voda St 34, Iasi 700038, Romania

[4] Univ Alexandru Ioan Cuza, Fac Biol, Dept Mol Genet, Carol I Ave, Iasi 700505, Romania

[5] Alexandru Ioan Cuza Univ, Fac Biol, Dept Res, Carol I Ave 11, Iasi 700505, Romania

[6] Reg Oncol Inst Iasi, Dept Mol Biol, Gen Henri Mathias Berthelot St 2-4, Iasi 700483, Romania

[7] Univ Med & Farm Timisoara, Fac Med, Dept Microscop Morphol, Eftimie Murgu Sq 2, Timisoara 300041, Romania

[8] Univ Med & Pharm Grigore T Popa, Fac Med, Dept Morphofunct Sci, Univ St 16, Iasi 700115, Romania

来源：

GENES | 2020年 / 11卷 / 06期

关键词：

in vitro fertilisation; preimplantation genetic testing for monogenic diseases; congenital disorder of glycosylation type Ia; DEFICIENT GLYCOPROTEIN SYNDROME; HYDROPS-FETALIS; PMM2-CDG; ADULTS; EXPRESSION; PHENOTYPE; DIAGNOSIS; SIBLINGS; SPECTRUM; FEATURES;

D O I：

10.3390/genes11060697

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 genePMM2, 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.

引用

页码：1 / 11

页数：11