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Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant

Fellman, Vineta LU ; Visapaa, Ilona; Vujic, Mihailo; Wennerholm, Ulla-Britt and Peltonen, Leena (2002) In Acta Obstetricia et Gynecologica Scandinavica 81(5). p.398-402
Abstract
OBJECTIVE: A prenatal diagnosis of the fetus for a mother of two previously deceased infants who died from the recently described autosomal recessive disease (OMIM 603358). The infants presented with intrauterine growth retardation, aminoaciduria, cholestasis, iron overload, severe lactic acidosis, and early death (GRACILE syndrome). STUDY DESIGN: DNA was extracted from the fibroblasts and tissue samples of the deceased infants, parental leukocytes, and from a chorion villus biopsy in the next pregnancy. Haplotypes were determined using the relevant markers flanking the disease-associated region of chromosome 2. RESULTS: Both deceased infants were homozygous for the four critical markers. The fetal haploptypes were identical to those of... (More)
OBJECTIVE: A prenatal diagnosis of the fetus for a mother of two previously deceased infants who died from the recently described autosomal recessive disease (OMIM 603358). The infants presented with intrauterine growth retardation, aminoaciduria, cholestasis, iron overload, severe lactic acidosis, and early death (GRACILE syndrome). STUDY DESIGN: DNA was extracted from the fibroblasts and tissue samples of the deceased infants, parental leukocytes, and from a chorion villus biopsy in the next pregnancy. Haplotypes were determined using the relevant markers flanking the disease-associated region of chromosome 2. RESULTS: Both deceased infants were homozygous for the four critical markers. The fetal haploptypes were identical to those of the siblings and the pregnancy was terminated. The iron content of the fetal liver was increased (5000 microg/g) compared with the controls, with a marked iron accumulation in the Kupffer cells. CONCLUSIONS: Antenatal diagnosis can be performed based on linkage analysis in families with at least one affected child because the disease locus has been assigned to a restricted chromosomal region. Typical histological abnormalities may be present in early fetal life. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Acta Obstetricia et Gynecologica Scandinavica
volume
81
issue
5
pages
398 - 402
publisher
Wiley-Blackwell
external identifiers
  • pmid:12027811
  • scopus:0036097396
ISSN
1600-0412
DOI
10.1034/j.1600-0412.2001.810504.x
language
English
LU publication?
no
id
68de6840-a525-4b29-87be-489a2ad42541 (old id 1124724)
date added to LUP
2008-05-21 10:26:19
date last changed
2017-01-01 06:52:16
@article{68de6840-a525-4b29-87be-489a2ad42541,
  abstract     = {OBJECTIVE: A prenatal diagnosis of the fetus for a mother of two previously deceased infants who died from the recently described autosomal recessive disease (OMIM 603358). The infants presented with intrauterine growth retardation, aminoaciduria, cholestasis, iron overload, severe lactic acidosis, and early death (GRACILE syndrome). STUDY DESIGN: DNA was extracted from the fibroblasts and tissue samples of the deceased infants, parental leukocytes, and from a chorion villus biopsy in the next pregnancy. Haplotypes were determined using the relevant markers flanking the disease-associated region of chromosome 2. RESULTS: Both deceased infants were homozygous for the four critical markers. The fetal haploptypes were identical to those of the siblings and the pregnancy was terminated. The iron content of the fetal liver was increased (5000 microg/g) compared with the controls, with a marked iron accumulation in the Kupffer cells. CONCLUSIONS: Antenatal diagnosis can be performed based on linkage analysis in families with at least one affected child because the disease locus has been assigned to a restricted chromosomal region. Typical histological abnormalities may be present in early fetal life.},
  author       = {Fellman, Vineta and Visapaa, Ilona and Vujic, Mihailo and Wennerholm, Ulla-Britt and Peltonen, Leena},
  issn         = {1600-0412},
  language     = {eng},
  number       = {5},
  pages        = {398--402},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Obstetricia et Gynecologica Scandinavica},
  title        = {Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant},
  url          = {http://dx.doi.org/10.1034/j.1600-0412.2001.810504.x},
  volume       = {81},
  year         = {2002},
}