Skip to main content

Advertisement

SpringerLink
Log in

Prenatal diagnosis of Meckel syndrome

  • Short Communications
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

The three main features of Meckel syndrome are encephalocele, polycystic kidneys, and polydactyly. Prenatal diagnosis of a fetus with Meckel syndrome was made in the 16th week of gestation by means of amniotic fluid alpha1 fetoprotein estimation. The indication for amniocentesis was a previous child with an occipital meningocele and polycystic kidneys. Interpretation of the alpha1-fetoprotein value (240 μg/ml) was difficult due to fetal blood contamination. Prenatal diagnosis is indicated in any pregnancy following the birth of a child with only two major symptoms of Meckel syndrome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Adinolfi, A., Adinolfi, M., Lessof, M. H.: Alpha-fetoprotein during development and in disease. J. Med. Genet. 12, 138–151 (1975)

    Google Scholar 

  • Altman, P. L., Dittmer, D. S.: Biological Data Book, Vol. III, 2nd ed. Bethesda, Maryland: Federation of American Societies for Experimental Biology 1974

    Google Scholar 

  • Aula, P., Karjalainen, O., Rapola, J., Lindgren, J., Seppällä, M.: Prenatal diagnosis of the Meckel syndrome. Am. J. Obstet. Gynecol. 129, 700–702 (1977)

    Google Scholar 

  • Chemke, J., Miskin, A., Rav-Acha, Z., Porath, A., Sagiv, M., Katz, Z.: Prenatal diagnosis of Meckel syndrome: alpha-fetoprotein and beta-trace protein in amniotic fluid. Clin. Genet. 11, 285–289 (1977)

    Google Scholar 

  • Fried, K., Liban, E., Lurie, M., Friedman, S., Reisner, S. H.: Polycystic kidney associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. J. Med. Genet. 8, 285–290 (1971)

    Google Scholar 

  • Mecke, S., Passarge, E.: Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann. Genet. (Paris) 14, 97–103 (1971)

    Google Scholar 

  • Milunsky, A., Alpert, E.: Prenatal diagnosis of neural tube defects. Obstet. Gynecol. 48, 1–5 (1976)

    Google Scholar 

  • Seller, M. J.: Prenatal diagnosis of a neural tube defect: Meckel syndrome. J. Med. Genet. 12, 109–110 (1975)

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Dept. of Human Genetics, University of Amsterdam, Sarphatistraat 217, Amsterdam, The Netherlands

    Nico J. Leschot & Marianne Verjaal

  2. Dept. of Pediatrics, R. K. Maria Stichting, Haarlen, The Netherlands

    Jaak J. de Nef

  3. Dept. of Pathology, University of Amsterdam, Amsterdam, The Netherlands

    Mies J. Becker-Bloemkolk

  4. Dept. of Gynecology and Obstetrics, R. K. Maria Stichting, Haarlem, The Netherlands

    Paul F. Wiesenhaan

Authors
  1. Nico J. Leschot
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jaak J. de Nef
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mies J. Becker-Bloemkolk
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Marianne Verjaal
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Paul F. Wiesenhaan
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Leschot, N.J., de Nef, J.J., Becker-Bloemkolk, M.J. et al. Prenatal diagnosis of Meckel syndrome. Hum Genet 43, 333–336 (1978). https://doi.org/10.1007/BF00278842

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278842

Keywords

Search

Navigation