Open AccessAntenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant
Author(s) -
Fellman Vineta,
Visapää Ilona,
Vujic Mihailo,
Wennerholm UllaBritt,
Peltonen Leena
Publication year - 2002
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.1034/j.1600-0412.2001.810504.x
Subject(s) - medicine , aminoaciduria , cholestasis of pregnancy , lactic acidosis , pregnancy , fetus , amniotic fluid , prenatal diagnosis , cholestasis , placenta , endocrinology , obstetrics , genetics , biology , urine
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 µg/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.