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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/61989592:15110/21:73608944

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

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

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

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

Název periodika

Biomedical Papers-Olomouc

ISSN

1213-8118

e-ISSN

1804-7521

Svazek periodika

166

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

8

Strana od-do

187-194

Kód UT WoS článku

000731344100001

EID výsledku v databázi Scopus

2-s2.0-85130644572