R Heydanus, M A Raats, D Tibboel, F J Los, J W Wladimiroff
{"title":"Prenatal diagnosis of fetal abdominal wall defects: a retrospective analysis of 44 cases.","authors":"R Heydanus, M A Raats, D Tibboel, F J Los, J W Wladimiroff","doi":"10.1002/(SICI)1097-0223(199605)16:5<411::AID-PD869>3.0.CO;2-W","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":"16 5","pages":"411-7"},"PeriodicalIF":2.7000,"publicationDate":"1996-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"41","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Diagnosis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/(SICI)1097-0223(199605)16:5<411::AID-PD869>3.0.CO;2-W","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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.
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