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Obstetrics & Gynecology 2003;102:167-172
© 2003 by The American College of Obstetricians and Gynecologists
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ORIGINAL RESEARCH

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

Edgar Schoen, MD, Carol Norem, MS, Jennifer O’Keefe, RN, MPH, Robyn Krieger, MS, David Walton, MD and Trinh T. To

From the Regional Perinatal Screening Program and Departments of Genetics and Perinatology, Kaiser Permanente Medical Center, Oakland, California.

Address reprint requests to: Edgar J. Schoen, MD, Department of Genetics, Kaiser Permanente Medical Center, 280 West MacArthur Boulevard, Oakland, CA 94611-5693; E-mail: edgar.schoen{at}kp.org.

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.




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C. T. Norem, E. J. Schoen, D. L. Walton, R. C. Krieger, J. O'Keefe, T. T. To, and G. T. Ray
Routine Ultrasonography Compared With Maternal Serum Alpha-fetoprotein for Neural Tube Defect Screening
Obstet. Gynecol., October 1, 2005; 106(4): 747 - 752.
[Abstract] [Full Text] [PDF]


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