Journal
GENETICS IN MEDICINE
Volume 24, Issue 10, Pages 2134-2143Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.gim.2022.07.010
Keywords
COL3A1; Genetics; Pregnancy; Vascular Ehlers-Danlos syndrome; Dissection
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Funding
- National Heart, Lung, and Blood Institute of the National Institutes of Health [K23HL127266]
- Lauren Ovelgonne Tenney Memorial Foundation
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This study aims to investigate birth outcomes data for patients with vascular Ehlers-Danlos syndrome (VEDS). The results indicate that VEDS patients have a higher rate of preterm birth and low birthweight, and the risk of preterm birth is determined by the fetal VEDS diagnosis alone, rather than the maternal affected status.
Purpose: Birth outcomes data for patients with vascular Ehlers-Danlos syndrome (VEDS) are limited. Methods: Patients with a pathogenic or likely pathogenic COL3A1 variant were included. Outcomes included gestational age (GA), birthweight (BW), and maternal complications. Birth outcomes were first compared with that of US population data, then compared by sex, maternal affected status, and COL3A1 genotype. Results: A total of 41 children were included (70.7% male), including 32 with high-risk (missense and splice site) variants. Preterm birth (<37 weeks) was more common in patients with VEDS than in the US population (48.8% vs 12.2%, P < .0001). Low BW (<2.5 kg) was also more common in patients with VEDS than in the US population (P < .0001), although, it was appropriate after GA adjustment (median GA-adjusted z-score 0.01 vs z-score 0.0, P = .26). No differences in GA or BW were observed by sex or maternal affected status. Those with high-risk variants were more likely to be born preterm than those with haploinsufficient variants, although this did not meet significance criteria (53% vs 33%, P = .35). Of the 6 affected mothers, 5 had perinatal complications. Conclusion: Preterm birth is more common in children with VEDS than in the general population. Maternal affected status is not associated with preterm birth, suggesting that risk is conferred by the fetal VEDS diagnosis alone. (C) 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
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