Prenatal diagnosis of Meckel syndrome: Case reports and literature review

Wiley - Tập 18 Số 4 - Trang 699-711 - 1984
Virginia P. Johnson1, David Holzwarth2,1,3, John M. Opitz, James F. Reynolds
1Departments of Obstetrics and Gynecology, University of South Dakota, Vermillion
2Center for the Developmentally Disabled, School of Medicine, University of South Dakota, Vermillion
3Pediatrics, and Laboratory Medicine, University of South Dakota, Vermillion

Tóm tắt

AbstractWe report on 2 couples at risk to have Meckel syndrome (MS) offspring. Three pregnancies were monitored by ultrasonography and alpha‐fetoprotein (AFP) assay in midtrimester. Of the 2 involving an affected fetus, one was thought to be unaffected.A literature survey was undertaken. Sources of error seem to lie in the heterogeneity of clinical manifestations and the variable onset and rate of progression of clinical components of MS and limitations in ultrasonographic resolution inherent in the scanner or due to the associated oligohydramnios.The following observations/suggestions are made concerning the prenatal diagnosis of MS: 1) Utilize as many tests as are available. 2) Amniotic fluid AFP is more likely to show significant elevation than serum AFP. 3) Ultrasonography should concentrate on presence of oligohydramnios, small head diameter, cystic mass at the occiput, large kidneys, and absent bladder. 4) Use serial AFP and sonographic examination if findings are initially normal or equivocal.

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Tài liệu tham khảo

Anderson VM, 1982, Meckel syndrome: Morphologic considerations, Birth Defects, 145

10.1016/0002-9378(77)90659-7

10.1148/radiology.141.2.6170088

10.1111/j.1399-0004.1977.tb01314.x

10.1111/j.1479-828X.1980.tb00896.x

10.1002/ajmg.1320090112

10.1111/j.1399-0004.1979.tb00980.x

Fryns JP, 1980, Prenatal diagnosis of Meckel syndrome, J Génét Hum, 28, 89

10.1002/pd.1970020205

10.1056/NEJM197602122940704

10.1002/ajmg.1320010210

Karjalainen O, 1981, Prenatal diagnosis of the Meckel syndrome, Obstet Gynecol, 57, 13S

10.1002/jcu.1870080104

10.1007/BF00278842

10.1111/j.1399-0004.1979.tb02021.x

10.7863/jum.1984.3.1.33

Patel ZM, 1981, Prenatal diagnosis of Meckel syndrome, Indian Pediatr, 18, 762

10.1002/pd.1970010302

Seller MJ, 1974, Prenatal diagnosis of a neural tube defect: Meckel syndrome, J Med Genet, 75, 109

10.1136/jmg.15.6.462

10.1111/j.1399-0004.1981.tb01811.x

Shapiro LM, 1977, Prenatal diagnosis of the Meckel syndrome: Use of serial ultrasound and alpha‐fetoprotein measurements, Birth Defects, 267

Wapner RJ, 1981, Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome, Obstet Gynecol, 57, 388

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Wiley

Tập 18 Số 4

699-711

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