Differences in the Early In Vitro Development of Preimplantation Human IVF Embryos Which Go on to Develop Congenital Heart Disease

Markham, S, Campbel, A, Montgomery, S and Dykes, I ORCID: 0000-0002-1030-3721 (2025) Differences in the Early In Vitro Development of Preimplantation Human IVF Embryos Which Go on to Develop Congenital Heart Disease. Journal of Cardiovascular Development and Disease, 12 (9).

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Abstract

There is a clinical need for improved antenatal diagnosis of congenital heart disease (CHD). Increasing numbers of children are born to parents undergoing fertility treatment. We asked whether time-lapse imaging of in vitro preimplantation development provides diagnostic information. We performed a retrospective multicentre analysis of morphokinetic data from patients undergoing fertility treatment. A total of 96/18,799 CHD cases were identified (rate: 0.51%). Thirty-two were included in the analysis and stratified into three cohorts: complex CHD (n = 7), mild CHD (n = 11) and murmur only (n = 14). Comparison to a large unmatched control group (n = 352) revealed no differences in time of preimplantation developmental events but suggested an increase in cleavage synchronicity during the third cell cycle of mild CHD embryos. Pairwise comparison to matched controls revealed a delay in mild CHD embryos relative to controls in reaching the morphokinetic timepoints fading of pronuclei, 2-cell stage and 4-cell stage together with a possible increase in duration of blastulation in complex CHD. Our data raises the possibility that screening of preimplantation embryos at fertility clinics could reduce the rate of CHD. However, these results are preliminary, and further work is required to confirm the findings in a larger study.

Item Type:	Article
Uncontrolled Keywords:	Institute for Health Research (IHR); Liverpool Centre for Cardiovascular Science (LCCS); 3201 Cardiovascular medicine and haematology
Subjects:	Q Science > QH Natural history > QH301 Biology
Divisions:	Pharmacy and Biomolecular Sciences
Publisher:	MDPI
Date of acceptance:	15 September 2025
Date of first compliant Open Access:	22 September 2025
Date Deposited:	22 Sep 2025 10:01
Last Modified:	22 Sep 2025 10:15
DOI or ID number:	10.3390/jcdd12090370
URI:	https://researchonline.ljmu.ac.uk/id/eprint/27186

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