Literature DB >> 63552

Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-feto protein.

J S Fitzsimmons, G M Filshie, A S Hill, R Kime.   

Abstract

A 24-year-old woman who had previously given birth to an infant with Down's syndrome was shown by chromosomal analysis of the liquor amnii to be carrying an infant with trisomy D. Routine examination of serum and liquor alpha-feto protein (AFP) in the antenatal period showed unexpected high levels of both, consistent with a neural tube defect. The fetus, however, did not have evidence of a neural tube defect but had scalp defects which were presumed to have allowed the leakage of AFP from the fetus into the liquor amnii and hance into the maternal serum.

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Year:  1976        PMID: 63552      PMCID: PMC1013448          DOI: 10.1136/jmg.13.5.400

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). I. DATA ON A CONSECUTIVE SERIES OF PATIENTS REFERRED FOR GENETIC COUNSELLING AND DIAGNOSIS.

Authors:  J L HAMERTON; F GIANNELLI; P E POLANI
Journal:  Cytogenetics       Date:  1965

2.  Congenital absence of the scalp and skull.

Authors:  H CONWAY; G JOHNSON
Journal:  Ann Surg       Date:  1956-12       Impact factor: 12.969

3.  Prenatal detection of D trisomy.

Authors:  K M Laurence; P J Gregory; F Sharp
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

4.  Antenatal diagnosis of Patau's syndrome (trisomy 13) including a detailed pathological study of the fetus.

Authors:  L J Butler; H E Reiss; N E France; S Briddon
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

5.  Chromosome analysis before birth and its value in genetic counselling.

Authors:  M E Ferguson-Smith; M A Ferguson-Smith; N C Nevin; M Stone
Journal:  Br Med J       Date:  1971-10-09

6.  Congenital scalp defects in mother and child.

Authors:  B D Cutlip; D M Cryan; W R Vineyard
Journal:  Am J Dis Child       Date:  1967-05
  6 in total
  1 in total

1.  Prenatal fetal karyotyping and maternal serum alpha-fetoprotein screening.

Authors:  C Gosden; K Buckton; Z Fotheringham; D J Brock
Journal:  Br Med J (Clin Res Ed)       Date:  1981-01-24
  1 in total

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