产前诊断脐膨出 92 例报告及与 Beckwith-Wiedemann 综合征的关系。

Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith-Wiedemann syndrome.

机构信息

Department of Obstetrics and Gynecology, The Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

Department of Pediatrics, Division of Neonatology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

出版信息

Prenat Diagn. 2021 Jun;41(7):798-816. doi: 10.1002/pd.5930. Epub 2021 Mar 17.

DOI:10.1002/pd.5930

PMID:33687072

Abstract

OBJECTIVE

Describe the prevalence, perinatal and long-term outcomes of Beckwith-Wiedemann syndrome (BWS) among prenatally detected omphaloceles.

METHODS

All prenatally diagnosed omphaloceles from 2010 to 2015 within a single tertiary care centre were identified. An echocardiogram and detailed fetal ultrasound were performed, and amniocentesis was offered with karyotype/microarray analysis and BWS molecular testing. Perinatal, neonatal, and long-term outcomes were retrieved for BWS cases.

RESULTS

Among 92 omphaloceles, 62 had additional anomalies. Abnormal karyotypes were identified in 23/62 (37%) non-isolated and 2/30 (7%) isolated cases. One BWS case (5%) was identified among non-isolated omphaloceles and six BWS cases (37.5%) were identified among isolated omphaloceles after exclusion of aneuploidy. Among 19 BWS cases, 21% were conceived by ART. All omphaloceles underwent primary closure. Prenatally, macrosomia and polyhydramnios were seen in 42%. Macroglossia and nephromegaly were more commonly detected postnatally. Preterm birth occurred in 10/19 (53%) cases and cesarean deliveries were performed in 7/19 (40%) cases. Overall mortality was 20% (4/19). Embryonal tumors were diagnosed in 2/16 (12.5%) children, and neurodevelopmental outcomes were normal in 9/12 (75%) survivors.

CONCLUSIONS

After excluding aneuploidy, BWS was identified in 37.5% and 5% of isolated and non-isolated omphaloceles, respectively. Omphaloceles were small-moderate size with good long-term surgical and neurodevelopmental outcomes when isolated.

摘要

目的

描述产前发现脐膨出中 Beckwith-Wiedemann 综合征（BWS）的患病率、围产期和长期结局。

方法

在单一的三级保健中心，确定了 2010 年至 2015 年间所有产前诊断的脐膨出病例。对所有病例均进行了心脏超声和详细的胎儿超声检查，并提供了羊膜穿刺术，进行核型/微阵列分析和 BWS 分子检测。检索了 BWS 病例的围产期、新生儿和长期结局。

结果

在 92 例脐膨出中，62 例有其他异常。在 23/62（37%）非孤立性和 2/30（7%）孤立性病例中发现异常核型。在非孤立性脐膨出中发现了 1 例 BWS 病例（5%），在排除非整倍体后，在孤立性脐膨出中发现了 6 例 BWS 病例（37.5%）。在 19 例 BWS 病例中，21%是通过 ART 受孕的。所有脐膨出均行一期闭合术。产前发现 42%的胎儿巨大儿和羊水过多。出生后更常发现巨舌和肾肥大。19 例中有 10 例（53%）早产，7 例（40%）行剖宫产术。总死亡率为 20%（4/19）。在 16 例患儿中诊断出胚胎性肿瘤 2 例（12.5%），9 例（75%）幸存者的神经发育结局正常。