Abstract
Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for a detailed examination of all terminated fetuses is emphasised, for the identification of such an autosomal recessive condition alters the genetic counselling for a future pregnancy.
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- Chemke J., Miskin A., Rav-Acha Z., Porath A., Sagiv M., Katz Z. Prenatal diagnosis of Meckel syndrome: alpha-feto protein and beta-trace protein in amniotic fluid. Clin Genet. 1977 Apr;11(4):285–289. doi: 10.1111/j.1399-0004.1977.tb01314.x. [DOI] [PubMed] [Google Scholar]
- Creasy M. R., Alberman E. D. Congenital malformations of the central nervous system in spontaneous abortions. J Med Genet. 1976 Feb;13(1):9–16. doi: 10.1136/jmg.13.1.9. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fried K. Relatively high prevalence of the Meckel syndrome among Jews. Isr J Med Sci. 1973 Sep-Oct;9(9):1399–1399. [PubMed] [Google Scholar]
- Holmes L. B., Driscoll S. G., Atkins L. Etiologic heterogeneity of neural-tube defects. N Engl J Med. 1976 Feb 12;294(7):365–369. doi: 10.1056/NEJM197602122940704. [DOI] [PubMed] [Google Scholar]
- Kimball M. E., Milunsky A., Alpert E. Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol. 1977 May;49(5):532–536. [PubMed] [Google Scholar]
- Mahoney M. J., Hobbins J. C. Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. N Engl J Med. 1977 Aug 4;297(5):258–260. doi: 10.1056/NEJM197708042970507. [DOI] [PubMed] [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. 1971 Jun;14(2):97–103. [PubMed] [Google Scholar]
- Seller M. J. Prenatal diagnosis of a neural tube defect: Meckel syndrome. J Med Genet. 1975 Mar;12(1):109–110. doi: 10.1136/jmg.12.1.109. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Shapiro L. J., Kaback M. M., Toomey K. E., Sarti D., Luther P., Cousins L. Prenatal diagnosis of the Meckel syndrome: use of serial ultrasound and alpha-fetoprotein measurements. Birth Defects Orig Artic Ser. 1977;13(3D):267–272. [PubMed] [Google Scholar]