Major fetal abnormalities associated with positive screening tests for Smith‐Lemli‐Opitz syndrome (SLOS)

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Abstract
Objective: Determine the relationship between positive screening interpretations for Smith‐Lemli‐Opitz syndrome (SLOS) and other fetal abnormalities, to aid counseling and diagnostic activities.Methods: An SLOS screening algorithm was incorporated into California's second‐trimester screening program for Down syndrome and open neural tube defects (ONTDs). Between 2002 and 2004, 777 088 pregnant women were given an SLOS risk interpretation, using alpha‐fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotrophin (hCG) measurements. Outcomes were obtained in 98.8% of screen‐positive pregnancies.Results: SLOS screen positives, alone or in combination with screen positives for other fetal disorders (Down syndrome, trisomy 18, ONTD), were associated with a high risk for fetal pathology. Type and frequency of chromosomal or anatomic abnormalities (or fetal death) varied according to screen‐positive combination. Among 2018 screen‐positive pregnancies, 644 fetal deaths were identified. Among the 1374 viable pregnancies, 519 were screen positive for SLOS alone; two SLOS cases and 51 other serious abnormalities were identified (14 aneuploidies; 37 anatomic). The remaining 855 were also screen positive for at least one other disorder; two SLOS cases and 327 other abnormalities were identified (180 aneuploidies; 157 anatomic).Conclusion: For screening programs implementing the SLOS algorithm, the present data may be useful for counseling and to guide diagnostic studies. Copyright © 2007 John Wiley & Sons, Ltd.

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