Genetic Aetiology Distribution of 398 Foetuses with Congenital Heart Disease in the Prenatal Setting
Authors' conclusion
CNV-seq and ES identified genetic abnormalities in nearly 1/3 of foetal CHD cases.
Study context
- Population
- Pregnant women with prenatally diagnosed foetal CHD, 2017–2020
- Participants
- 398 women
- Outcome
- Genetic abnormalities (AUP, pathogenic CNVs (pCNVs), SNVs) detected by CNV-seq and ES
Methodological detailsRecruitment 8 January 2017 to 30 November 2020, copy number variant-sequencing (CNV-seq) and exome sequencing (ES) on foetal and parent samples
- Recruitment 8 January 2017 to 30 November 2020
- CNV-seq and ES on foetal and parent samples
Main finding
As reported in the abstract
Genetic abnormalities
Any genetic abnormality
129
32.41%
Aneuploidy (aneuploids (AUP))
10.80%
Pathogenic CNVs
13.32%
Single nucleotide variants (SNVs)
8.04%
Observational data: associations, not effects.
Further findings
Genetic abnormalities, non-isolated vs isolated CHD
- Non-isolated congenital heart diseases (CHDs) associated with higher genetic abnormalities than isolated CHDs, mainly due to AUP differences
ES diagnostic yield by CHD category
- Ventricular septal defect (VSD)
- 44.4%, 4/9
- Left ventricular outflow tract obstruction (LVOTO)
- 20%, 7/35
- Heterotaxy
- 14.89%, 7/47
- Conotruncal defects (CTD)
- 9.1%, 11/121
- Single ventricle (SV)
- 6.7%, 1/15
- Atrioventricular septal defects (AVSD)
- 3.8%, 1/26
- Right ventricular obstruction defects
- 2.6%, 1/38
- ES yield higher than CNV-seq for VSD, LVOTO, heterotaxy (Hex) and CTD; not increased for SV, AVSD or right ventricular obstruction defects
Most common mutated genes
- KMT2D, CHD7 and NOTCH1
Original publication
Genetic Aetiology Distribution of 398 Foetuses with Congenital Heart Disease in the Prenatal Setting. ESC Heart Fail. Published 7 December 2022. doi:10.
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