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

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

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 o...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genetics in medicine 2022-10, Vol.24 (10), p.2134-2143
Hauptverfasser: Stephens, Sara B., Russo, Melissa, Shalhub, Sherene, Beecroft, Taylor, Weigand, Justin, Milewicz, Dianna M., Morris, Shaine A.
Format: Artikel
Sprache:eng
Schlagworte:
COL3A1
Dissection
Genetics
Pregnancy
Vascular Ehlers–Danlos syndrome
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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 (
ISSN:1098-3600
1530-0366
DOI:10.1016/j.gim.2022.07.010