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Maternal Serum Unconjugated Estriol as a Predictor for Smith–Lemli–Opitz Syndrome and Other Fetal Conditions

2003; Lippincott Williams & Wilkins; Volume: 102; Issue: 1 Linguagem: Inglês

10.1097/00006250-200307000-00031

1873-233X

Edgar J. Schoen, Carol Norem, Jennifer O‘Keefe, Robyn Krieger, David Walton, Trinh T. To,

Peroxisome Proliferator-Activated Receptors

In Brief OBJECTIVE To assess the clinical value of low maternal serum unconjugated estriol (E3) level for diagnosing Smith–Lemli–Opitz syndrome and other fetal clinical conditions in pregnant members of a large health maintenance organization. METHODS We studied serum unconjugated E3 levels in 120,071 gravidas having California Expanded Alpha-Feto-protein prenatal screening at 15–20 weeks' gestation during a 5-year period. RESULTS Of the 120,071 women, 323 (0.27%) had low unconjugated E3 levels (less than or equal to 0.2 ng/mL, or 0.15 multiples of the median). Excluding women who were screened too early or who had indeterminate screening results, 103 (0.08%) women with unexplained low unconjugated E3 level remained; of these 103 women, 33 had negative screening results and 68 had positive screening results, and two were tested too late for interpretation. Intrauterine fetal death occurred in 39 (57%) of the 68 women with low unconjugated E3 and positive screening results and occurred in two (6%) of the 33 women with low unconjugated E3 levels and negative screening results, a significant difference (P < .001). Two cases of Smith–Lemli–Opitz syndrome were identified and the patients did not survive the neonatal period; one was a therapeutic abortion for severe oligohydramnios, and the other died at age 48 hours. Low unconjugated E3 level also predicted presence of steroid sulfatase deficiency, a much more common X-linked skin disorder characterized by ichthyosis. CONCLUSION Low maternal serum unconjugated E3 diagnosed more cases of steroid sulfatase deficiency and undetected intrauterine fetal death than Smith–Lemli–Opitz syndrome (1:60,000 prevalence), although the clinical importance of having this information prenatally is uncertain. Gravidas with low serum unconjugated estriol levels had more undetected intrauterine fetal deaths or infants with steroid sulfatase deficiency than those with Smith–Lemli–Opitz syndrome (1:60,000prevalence).