Stephens Sara B, Russo Melissa, Shalhub Sherene, Beecroft Taylor, Weigand Justin, Milewicz Dianna M, Morris Shaine A
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.
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.
Genet Med. 2022 Oct;24(10):2134-2143. doi: 10.1016/j.gim.2022.07.010. Epub 2022 Aug 20.
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.
血管性埃勒斯-当洛综合征（VEDS）患者的出生结局数据有限。
纳入具有致病性或可能致病性COL3A1变异的患者。结局包括孕周（GA）、出生体重（BW）和母亲并发症。首先将出生结局与美国人群数据进行比较，然后按性别、母亲受累状态和COL3A1基因型进行比较。
共纳入41名儿童（70.7%为男性），其中32名携带高风险（错义及剪接位点）变异。VEDS患者中早产（<37周）比美国人群更常见（48.8%对12.2%，P<.0001）。VEDS患者中低出生体重（<2.5kg）也比美国人群更常见（P<.0001），不过经孕周调整后是合适的（中位孕周调整后的z评分0.01对z评分0.0，P=.26）。按性别或母亲受累状态未观察到孕周或出生体重的差异。携带高风险变异的患者比携带单倍剂量不足变异的患者更易早产，尽管未达到显著性标准（53%对33%，P=.35）。6名受累母亲中，5名有围产期并发症。
VEDS患儿中早产比一般人群更常见。母亲受累状态与早产无关，提示风险仅由胎儿VEDS诊断所致。
