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. 1986 Feb;23(1):58–63. doi: 10.1136/jmg.23.1.58

Genetic analysis of malformations causing perinatal mortality.

I D Young, A B Rickett, M Clarke
PMCID: PMC1049543  PMID: 3950936

Abstract

An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases.

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Selected References

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

  1. Boué A., Gallano P. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn. 1984 Spring;4(Spec No):45–67. doi: 10.1002/pd.1970040705. [DOI] [PubMed] [Google Scholar]
  2. Carter C. O., Evans K., Pescia G. A family study of renal agenesis. J Med Genet. 1979 Jun;16(3):176–188. doi: 10.1136/jmg.16.3.176. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Clarke M., Clayton D. G. Quality of obstetric care provided for Asian immigrants in Leicestershire. Br Med J (Clin Res Ed) 1983 Feb 19;286(6365):621–623. doi: 10.1136/bmj.286.6365.621. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Dobyns W. B., Stratton R. F., Greenberg F. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet. 1984 Jul;18(3):509–526. doi: 10.1002/ajmg.1320180320. [DOI] [PubMed] [Google Scholar]
  5. Gustavson K. H., Jorulf H. Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period. Clin Genet. 1976 Mar;9(3):307–314. doi: 10.1111/j.1399-0004.1976.tb01579.x. [DOI] [PubMed] [Google Scholar]
  6. Hall B. D. Section II: diagnosis of the malformed abortus, stillborn, and deceased newborn--introductory remarks. Birth Defects Orig Artic Ser. 1979;15(5A):89–92. [PubMed] [Google Scholar]
  7. Hall J. G. The lethal multiple pterygium syndromes. Am J Med Genet. 1984 Apr;17(4):803–807. doi: 10.1002/ajmg.1320170410. [DOI] [PubMed] [Google Scholar]
  8. MacLeod P. M., Dill F., Hardwick D. F. Chromosomes, syndromes, and perinatal deaths: the genetic counseling value of making a diagnosis in a malformed abortus, stillborn, and deceased newborn. Birth Defects Orig Artic Ser. 1979;15(5A):105–111. [PubMed] [Google Scholar]
  9. McIlwaine G. M., Howat R. C., Dunn F., Macnaughton M. C. The Scottish perinatal mortality survey. Br Med J. 1979 Nov 3;2(6198):1103–1106. doi: 10.1136/bmj.2.6198.1103. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Mueller R. F., Sybert V. P., Johnson J., Brown Z. A., Chen W. J. Evaluation of a protocol for post-mortem examination of stillbirths. N Engl J Med. 1983 Sep 8;309(10):586–590. doi: 10.1056/NEJM198309083091004. [DOI] [PubMed] [Google Scholar]
  11. Mutch L. M., Brown N. J., Speidel B. D., Dunn P. M. Perinatal mortality and neonatal survival in Avon: 1976-9. Br Med J (Clin Res Ed) 1981 Jan 10;282(6258):119–122. doi: 10.1136/bmj.282.6258.119. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Norio R., Käriäinen H., Rapola J., Herva R., Kekomäki M. Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. Am J Med Genet. 1984 Feb;17(2):471–483. doi: 10.1002/ajmg.1320170210. [DOI] [PubMed] [Google Scholar]
  13. Pena S. D., Goodman H. O. The genetics of thanatophoric dwarfism. Pediatrics. 1973 Jan;51(1):104–109. [PubMed] [Google Scholar]
  14. Poland B. J., Lowry R. B. The use of spontaneous abortuses and stillbirths in genetic counseling. Am J Obstet Gynecol. 1974 Feb 1;118(3):322–326. doi: 10.1016/s0002-9378(16)33786-3. [DOI] [PubMed] [Google Scholar]
  15. Roach E., Demyer W., Conneally P. M., Palmer C., Merritt A. D. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294–313. [PubMed] [Google Scholar]
  16. Rose V., Izukawa T., Moës C. A. Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis. Br Heart J. 1975 Aug;37(8):840–852. doi: 10.1136/hrt.37.8.840. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Shohet I., Reichman B., Schibi G., Brish M. Familial persistent pulmonary hypertension. Arch Dis Child. 1984 Aug;59(8):783–785. doi: 10.1136/adc.59.8.783. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Sillence D. O., Barlow K. K., Garber A. P., Hall J. G., Rimoin D. L. Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet. 1984 Feb;17(2):407–423. doi: 10.1002/ajmg.1320170204. [DOI] [PubMed] [Google Scholar]
  19. Stene J., Stene E., Mikkelsen M. Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981. Prenat Diagn. 1984 Spring;4(Spec No):81–95. doi: 10.1002/pd.1970040707. [DOI] [PubMed] [Google Scholar]
  20. Williams T., Zardawi I., Quaife R., Young I. D. Complex cardiac malformation in a case of trisomy 9. J Med Genet. 1985 Jun;22(3):230–233. doi: 10.1136/jmg.22.3.230. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Winter R. M. The malformed fetus and stillbirth: whose patient? Br J Obstet Gynaecol. 1983 Jun;90(6):499–500. doi: 10.1111/j.1471-0528.1983.tb08954.x. [DOI] [PubMed] [Google Scholar]
  22. Wood B., Catford J. C., Cogswell J. J. Confidential paediatric inquiry into neonatal deaths in Wessex, 1981 and 1982. Br Med J (Clin Res Ed) 1984 Apr 21;288(6425):1206–1208. doi: 10.1136/bmj.288.6425.1206. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Young I. D., Harper P. S. Recurrence risk in osteogenesis imperfecta congenita. Lancet. 1980 Feb 23;1(8165):432–432. doi: 10.1016/s0140-6736(80)90988-5. [DOI] [PubMed] [Google Scholar]
  24. Young I. D., Rickett A. B., Clarke M. High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet. 1985 Aug;22(4):301–304. doi: 10.1136/jmg.22.4.301. [DOI] [PMC free article] [PubMed] [Google Scholar]

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