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. 1976 Feb;13(1):9–16. doi: 10.1136/jmg.13.1.9

Congenital malformations of the central nervous system in spontaneous abortions.

M R Creasy, E D Alberman
PMCID: PMC1013341  PMID: 775092

Abstract

A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arias-Bernal L., Jones H. W., Jr An anencephalic male with xx sex chromosome complement. Am J Obstet Gynecol. 1967 Nov 15;99(6):877–878. doi: 10.1016/0002-9378(67)90403-6. [DOI] [PubMed] [Google Scholar]
  2. Batts J. A., Jr, Punnett H. H., Valdes-Dapena M., Coles J. W., Green W. R. A case of cyclopia. Am J Obstet Gynecol. 1972 Mar;112(5):657–661. doi: 10.1016/0002-9378(72)90791-0. [DOI] [PubMed] [Google Scholar]
  3. Boué J. G., Boué A. Fréquence des aberrations chromosomiques dans les avortements spontanés humains. C R Acad Sci Hebd Seances Acad Sci D. 1969 Jul 16;269(2):283–288. [PubMed] [Google Scholar]
  4. Carter C. O., Evans K. Spina bifida and anencephalus in greater London. J Med Genet. 1973 Sep;10(3):209–234. doi: 10.1136/jmg.10.3.209. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. DE GROUCHY J., BRISSAUD H. E., REPESSE G., LAMY M. ANENC'EPHALIE FAMILIALE ET REMANIEMENT DE DEUX CHROMOSOMES 13-15. C R Hebd Seances Acad Sci. 1964 Jul 20;259:691–694. [PubMed] [Google Scholar]
  6. FRENCH F. E., BIERMAN J. M. Probabilities of fetal mortality. Public Health Rep. 1962 Oct;77:835–847. [PMC free article] [PubMed] [Google Scholar]
  7. LEE C. S., BOWEN P., ROSENBLUM H., LINSAO L. FAMILIAL CHROMOSOME-2, 3 TRANSLOCATION ASCERTAINED THROUGH AN INFANT WITH MULTIPLE MALFORMATIONS. N Engl J Med. 1964 Jul 2;271:12–16. doi: 10.1056/NEJM196407022710102. [DOI] [PubMed] [Google Scholar]
  8. Leck I. Causation of neural tube defects: clues from epidemiology. Br Med Bull. 1974 May;30(2):158–163. doi: 10.1093/oxfordjournals.bmb.a071187. [DOI] [PubMed] [Google Scholar]
  9. Machin G. A., Crolla J. A. Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants. Humangenetik. 1974;23(3):183–198. doi: 10.1007/BF00285104. [DOI] [PubMed] [Google Scholar]
  10. Niebuhr E., Sparrevohn S., Henningsen K., Mikkelsen M. A case of liveborn triploidy (69,XXX). Acta Paediatr Scand. 1972 Mar;61(2):203–208. doi: 10.1111/j.1651-2227.1972.tb15925.x. [DOI] [PubMed] [Google Scholar]
  11. Roberts C. J., Lloyd S. Area differences in spontaneous abortion rates in South Wales and their relation to neural tube defect incidence. Br Med J. 1973 Oct 6;4(5883):20–22. doi: 10.1136/bmj.4.5883.20. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. SHAPIRO S., JONES E. W., DENSEN P. M. A life table of pregnancy terminations and correlates of fetal loss. Milbank Mem Fund Q. 1962 Jan;40:7–45. [PubMed] [Google Scholar]
  13. STEVENSON A. C., WARNOCK H. A. Observations on the results of pregnancies in women resident in Belfast. I. Data relating to all pregnancies ending in 1957. Ann Hum Genet. 1959 Dec;23:382–394. doi: 10.1111/j.1469-1809.1959.tb01481.x. [DOI] [PubMed] [Google Scholar]
  14. Singh R. P., Carr D. H. Anatomic findings in human abortions of known chromosomal constitution. Obstet Gynecol. 1967 Jun;29(6):806–818. [PubMed] [Google Scholar]
  15. Spellman M. P. Chromosome investigations of anencephaly and other congenital C.N.S. abnormalities in cork. Ir J Med Sci. 1966 Sep;6(489):393–398. doi: 10.1007/BF02962415. [DOI] [PubMed] [Google Scholar]

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