Prenatal diagnosis of fetal abdominal wall defects: a retrospective analysis of 44 cases.

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 1996-05-01 DOI:10.1002/(SICI)1097-0223(199605)16:5<411::AID-PD869>3.0.CO;2-W
R Heydanus, M A Raats, D Tibboel, F J Los, J W Wladimiroff
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引用次数: 41

Abstract

Forty-four fetal abdominal wall defects, consisting of 31 omphalocoeles, 11 cases of gastroschisis, and two body stalk anomalies (which are excluded from further analysis), were diagnosed at 12-39 weeks (median 26 weeks) of gestation. In 10/31 (32 per cent) cases of omphalocoele and in 4/11 (36 per cent) cases of gastroschisis, multiple congenital anomalies were diagnosed. A normal amount of amniotic fluid was present in 39 cases; in three cases of omphalocoele an abnormal amount of amniotic fluid (polyhydramnios, n = 2; oligohydramnios, n = 1) was seen. Prenatally, intrauterine growth retardation (IUGR) was diagnosed in each type of anomaly only once, although the birth weight was below the tenth centile in 23 per cent of omphalocoeles and in 36 per cent of cases of gastroschisis. An abnormal prenatal karyotpye was established in 5/25 (20 per cent) cases of omphalocoele versus none in the gastroschisis group. In 36 cases an expectant obstetric management was followed, and in six cases of omphalocoele the pregnancies were terminated because of severe multiple anomalies (n = 3) or an abnormal prenatal karyotype (n = 3). The preterm delivery rate (excluding terminations) was 12/25 (48 per cent) in the omphalocoele subgroup versus 8/11 (73 per cent) in the gastroschisis subgroup. The Caesarean section rate was almost identical (19 versus 18 per cent) in both subgroups; the majority (n = 5) were performed to protect the abdominal wall defect. The overall survival rate was 39 per cent in the omphalocoele group; in all surviving infants this was the sole congenital anomaly and in each instance there was a normal karyotype. In the gastroschisis group, 8/11 (72 per cent) infants survived, of which two children also displayed unilateral hydronephrosis.

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胎儿腹壁缺陷的产前诊断:44例回顾性分析。
在妊娠12-39周(中位26周)诊断出44例胎儿腹壁缺陷,包括31例脐突,11例胃裂,2例体柄异常(排除在进一步分析之外)。在10/31(32%)的脐膨出病例和4/11(36%)的胃裂病例中,诊断出多种先天性异常。39例羊水正常;3例脐膨出患者羊水异常(羊水过多,n = 2;羊水过少(n = 1)。在产前,每种类型的异常只有一次被诊断为宫内生长迟缓(IUGR),尽管23%的脐膨出和36%的胃裂病例的出生体重低于十分之一。产前核型异常在5/25(20%)的脐裂组中建立,而在胃裂组中没有。在36例孕妇产科护理中,6例脐膨出因严重多发性异常(n = 3)或产前核型异常(n = 3)而终止妊娠。脐膨出亚组的早产率(不包括终止妊娠)为12/25(48%),而胃裂亚组为8/11(73%)。两个亚组的剖宫产率几乎相同(19%对18%);大多数(n = 5)手术是为了保护腹壁缺损。脐膨出组的总生存率为39%;在所有幸存的婴儿中,这是唯一的先天性异常,在每个实例中都有正常的核型。在腹裂组中,8/11(72%)的婴儿存活,其中2名儿童也表现出单侧肾积水。
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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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