Abstract
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.
Keywords
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Article info
Publication history
Published online: August 19, 2022
Accepted:
July 6,
2022
Received in revised form:
July 5,
2022
Received:
April 8,
2022
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
