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Prenatal diagnosis of Meckel syndrome: case reports and literature review.
Am J Med Genet. 1984 Aug; 18(4):699-711.AJ

Abstract

We 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.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

6207728

Citation

Johnson, V P., and D R. Holzwarth. "Prenatal Diagnosis of Meckel Syndrome: Case Reports and Literature Review." American Journal of Medical Genetics, vol. 18, no. 4, 1984, pp. 699-711.
Johnson VP, Holzwarth DR. Prenatal diagnosis of Meckel syndrome: case reports and literature review. Am J Med Genet. 1984;18(4):699-711.
Johnson, V. P., & Holzwarth, D. R. (1984). Prenatal diagnosis of Meckel syndrome: case reports and literature review. American Journal of Medical Genetics, 18(4), 699-711.
Johnson VP, Holzwarth DR. Prenatal Diagnosis of Meckel Syndrome: Case Reports and Literature Review. Am J Med Genet. 1984;18(4):699-711. PubMed PMID: 6207728.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of Meckel syndrome: case reports and literature review. AU - Johnson,V P, AU - Holzwarth,D R, PY - 1984/8/1/pubmed PY - 1984/8/1/medline PY - 1984/8/1/entrez SP - 699 EP - 711 JF - American journal of medical genetics JO - Am J Med Genet VL - 18 IS - 4 N2 - We 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6207728/Prenatal_diagnosis_of_Meckel_syndrome:_case_reports_and_literature_review_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=18&issue=4&spage=699 DB - PRIME DP - Unbound Medicine ER -