Blazer Shraga, Zimmer Etan Z, Gover Ayala, Bronshtein Moshe
Department of Neonatology, Rambam Medical Center and Faculty of Medicine, Technion-Israel Institute of Technology, 8 Ha'Aliyah St, Haifa 35254, Israel.
Radiology. 2004 Jul;232(1):191-5. doi: 10.1148/radiol.2321030795.
To detect omphalocele and associated anomalies at ultrasonography (US) early in pregnancy and to describe the outcomes in fetuses with isolated and nonisolated omphalocele.
Fetal endovaginal US was performed in 43,896 pregnant women at 12-16 weeks gestation. The women found to have fetal omphalocele were offered an amniocentesis to determine the fetal karyotype. For parents who decided to continue the pregnancy, repeat targeted transabdominal fetal US was performed at 20-24 weeks gestation. Additional follow-up US examinations performed until delivery were recommended. Postnatal pediatric examinations were performed in all of these fetuses. For the pregnancies in which no anomaly was detected at early US, the women were advised to undergo repeat US at about 24 weeks gestation for the detection of late-manifesting fetal anomalies. For pregnancies in which the baby was not delivered at the authors' affiliated hospital, the woman, her obstetrician, and her pediatrician were asked to inform the authors of any detected anomaly.
Omphalocele was visualized at US in 38 fetuses, who were categorized into two groups. One group consisted of 22 (58%) fetuses with associated structural anomalies. According to the karyotype determined for 18 of these fetuses, 11 of them also had chromosomal anomalies. The pregnancy was terminated at the parents' request in 19 of these 22 cases. There were two cases of missed abortion, and a small omphalocele in one fetus disappeared at 21 weeks gestation. The second group consisted of 16 (42%) fetuses with a normal karyotype and an omphalocele as an isolated US finding. In eight of these fetuses, the omphalocele disappeared at 20-24 weeks gestation and no defect was seen at delivery. In six other fetuses, omphalocele was identified at delivery. There was one case each of missed abortion and pregnancy termination. There were no false-negative diagnoses of omphalocele.
Isolated omphalocele diagnosed during the early stages of gestation typically has a good prognosis. In cases of a small defect, the anomaly may disappear later in the pregnancy.
在妊娠早期通过超声检查（US）检测脐膨出及相关异常，并描述孤立性和非孤立性脐膨出胎儿的结局。
对43896名妊娠12 - 16周的孕妇进行经阴道胎儿超声检查。对发现有胎儿脐膨出的孕妇进行羊膜腔穿刺以确定胎儿核型。对于决定继续妊娠的父母，在妊娠20 - 24周时进行重复经腹胎儿超声检查。建议进行额外的随访超声检查直至分娩。对所有这些胎儿进行出生后儿科检查。对于早期超声检查未发现异常的妊娠，建议孕妇在妊娠约24周时进行重复超声检查以检测晚期出现的胎儿异常。对于未在作者所属医院分娩的妊娠，要求产妇、其产科医生和儿科医生告知作者任何检测到的异常情况。
超声检查发现38例胎儿有脐膨出，这些胎儿分为两组。一组由22例（58%）伴有相关结构异常的胎儿组成。根据其中18例胎儿确定的核型，其中11例也有染色体异常。在这22例中的19例，应父母要求终止妊娠。有2例稽留流产，1例胎儿的小脐膨出在妊娠21周时消失。第二组由16例（42%）核型正常且超声检查仅发现脐膨出的胎儿组成。其中8例胎儿的脐膨出在妊娠20 - 24周时消失，分娩时未见缺陷。另外6例胎儿在分娩时发现有脐膨出。有1例稽留流产和1例终止妊娠。没有脐膨出的假阴性诊断。
妊娠早期诊断的孤立性脐膨出通常预后良好。对于小缺陷的病例，该异常可能在妊娠后期消失。
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