MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects – pilot study. The significant frequency rate of presented pathological CNV

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F22%3A10157597" target="_blank" >RIV/00098892:_____/22:10157597 - isvavai.cz</a>

Alternative codes found

RIV/61989592:15110/21:73608944

Result on the web

<a href="https://biomed.papers.upol.cz/corproof.php?tartkey=bio-000000-2734" target="_blank" >https://biomed.papers.upol.cz/corproof.php?tartkey=bio-000000-2734</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5507/bp.2021.019" target="_blank" >10.5507/bp.2021.019</a>

Result language

angličtina

Original language name

MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects – pilot study. The significant frequency rate of presented pathological CNV

Original language description

Aims. The aim of this retrospective study was to determine the detection rate of the pathogenic copy number variants (CNVs) in a cohort of 33 foetuses – 32 with CHD (congenital heart defects) and 1 with kidney defect, after exclusion of common aneuploidies (trisomy 13, 18, 21, and monosomy X) by karyotyping, Multiplex ligation – dependent probe amplification (MLPA) and chromosomal microarray analysis (CMA). We also assess the effectivity of MLPA as a method of the first tier for quick and inexpensive detection of mutations, causing congenital malformations in foetuses. Methods. MLPA with probe mixes P070, P036 – Telomere 3 and 5, P245 – microdeletions, P250 – DiGeorge syndrome, and P311 – CHD (Congenital heart defects) was performed in 33 samples of amniotic fluid and chorionic villi. CMA was performed in 10 relevant cases. Results. Pathogenic CNVs were found in 5 samples: microdeletions in region 22q11.2 (≈2 Mb) in two foetuses, one distal microdeletion of the 22q11.2 region containing genes LZTR1, CRKL, AIFM3 and SNAP29 (≈416 kb) in the foetus withbilateral renal agenesis, 8p23.1 (3.8 Mb) microdeletion syndrome and microdeletion in area 9q34.3 (1.7 Mb, Kleefstra syndrome). MLPA as an initial screening method revealed unambiguously pathogenic CNVs in 15.2 % of samples. Conclusion. Our study suggests that MLPA and CMA are a reliable and high-resolution technology and should be used as the first-tier test for prenatal diagnosis of congenital heart disease. Determination of the cause of the abnormality is crucial for genetic counselling and further management of the pregnancy.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10603 - Genetics and heredity (medical genetics to be 3)

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Biomedical Papers-Olomouc

ISSN

1213-8118

e-ISSN

1804-7521

Volume of the periodical

166

Issue of the periodical within the volume

2

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

8

Pages from-to

187-194

UT code for WoS article

000731344100001

EID of the result in the Scopus database

2-s2.0-85130644572