## Abstract In a large multi‐center trial involving prenatal screening for Smith–Lemli–Opitz syndrome (SLOS), we evaluated maternal urine and serum steroid analysis as a non‐invasive diagnostic alternative to amniotic fluid sterol analysis. Candidate steroid ratios included: 7‐dehydropregnanetriol/
Biochemical examination of mother’s urine is useful for prenatal diagnosis of Bartter syndrome
✍ Scribed by Yuriko Matsushita; Yoshikatsu Suzuki; Naomi Oya; Shoji Kajiura; Kazuki Okajima; Osamu Uemura; Kaoru Suzumori
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 106 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
Bartter syndrome is characterized by renal potassium and chloride loss, hypokalaemia, hypochloraemic metabolic alkalosis and increased plasma renin activity along with elevated angiotensin II and hyperaldosteronism. For diagnosis we conducted biochemical examinations of both amniotic fluid and the mother's urine. Except for potassium, amniotic fluid electrolytes in a mother with a fetus with Bartter syndrome were high. Urinary chloride, sodium and calcium were very low. Thus, the latter parameters may allow prediction of fetal Bartter syndrome during the prenatal period.
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