Evaluating perinatal and neonatal outcomes among children with vascular Ehlers–Danlos syndrome

  • Sara B. Stephens
    Division of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX

    Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, TX
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  • Melissa Russo
    Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Women and Infants Hospital of Rhode Island, Warren Alpert Medical School at Brown University, Providence, RI
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  • Sherene Shalhub
    Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, WA
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  • Taylor Beecroft
    Division of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX
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  • Justin Weigand
    Division of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX
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  • Dianna M. Milewicz
    Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center, Houston, TX
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  • Shaine A. Morris
    Correspondence and requests for materials should be addressed to Shaine A. Morris, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, 6651 Main Street E1920, Houston, TX 77030
    Division of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX
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Published:August 19, 2022DOI:



      Birth outcomes data for patients with vascular Ehlers–Danlos syndrome (VEDS) are limited.


      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.


      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.


      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.


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