First and Second Trimester Screening;alpha-fetoprotein (AFP);congenital heart disease;congenital nephrosis;epidermolysis bullosa;first trimester screening;nuchal translucency;quadruple screening;Smith-Lemli-Opitz syndrome;unconjugated estriol;X-linked ichthyosis...
CONGENITAL X-LINKED ICHTHYOSISINTRAUTERINE FETAL DEATHPlacental sulfatase deficiency and congenital ichthyosis are two manifestations of an X-linked recessive inborn error of metabolism. This uncommon disorder can be diagnosed antenatally by maternal urinary steroid assays. A case with an affected sibling ...
Low unconjugated E3 level also predicted presence of steroid sulfatase deficiency, a much more common X-linked skin disorder characterized by ichthyosis. Low maternal serum unconjugated E3 diagnosed more cases of steroid sulfatase deficiency and undetected intrauterine fetal death than Smith–Lemli–Opitz ...