Abstract
Background: Smith-Lemli-Opitz syndrome (SLOS) is a rare hereditary disorder of cholesterol metabolism. We examine the feasibility of identifying SLOS as a part of a routine prenatal screening and evaluate diagnostic testing in maternal urine (or serum), in addition to amniotic fluid. Methods: Our SLOS risk algorithm utilized three Down syndrome screening markers (estimated 62% detection rate; 0.3% screen-positive rate). Fifteen North American prenatal screening programs implemented this algorithm. Results: SLOS risk was assigned to 1 079 301 pregnancies; 3083 were screen-positive (0.29%). Explanations were found for 1174, including 914 existing fetal deaths. Among the remaining pregnancies, 739 were screen-positive only for SLOS; 1170 were also screen-positive for other fetal disorders. Five of six SLOS pregnancies (83%) were screen-positive. All six had sonographic findings, were biochemically confirmed, and were terminated. Maternal urine steroid measurements were confirmatory in four cases tested. Second-trimester prevalence among Caucasians was 1 in 101 000 (1 in 130000 overall; no cases in other racial groups). Among 739 pregnancies screen-positive only for SLOS. two cases were identified; another 69 had major fetal abnormalities. Conclusions: Although SLOS occurred less often than previously reported, many other major abnormalities were detected. Implementing the algorithm as an adjunct to Down syndrome screening may be feasible.
Original language | English (US) |
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Pages (from-to) | 842-849 |
Number of pages | 8 |
Journal | Prenatal Diagnosis |
Volume | 26 |
Issue number | 9 |
DOIs | |
State | Published - Sep 2006 |
Keywords
- Diagnostic testing
- Prenatal screening
- Prevalence
- Smith-Lemli-Opitz syndrome
ASJC Scopus subject areas
- Obstetrics and Gynecology
- Genetics(clinical)