Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz Syndrome (SLOS)

American Journal of Medical Genetics, Part A

Volumn 143, Issue 18, 2007, Pages 2129-2136

  Shackleton, Cedric H L ^a   Marcos, Josep ^a   Palomaki, Glenn E ^b   Craig, Wendy Y ^c   Kelley, Richard I ^d   Kratz, Lisa E ^d   Haddow, James E ^b  

^a CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^b BROWN UNIVERSITY   (United States)

^c FOUNDATION FOR BLOOD RESEARCH   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

GC MS; Prenatal diagnosis; Serum steroids; Smith Lemli Opitz syndrome (SLOS); Steroid analysis; Urine steroids

Indexed keywords

ESTRIOL; PREGNANETRIOL;

ARTICLE; BLOOD; CLINICAL TRIAL; FEMALE; HUMAN; MALE; MASS FRAGMENTOGRAPHY; MULTICENTER STUDY; PREGNANCY; SMITH LEMLI OPITZ SYNDROME; URINE;

ESTRIOL; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; MALE; PREGNANCY; PREGNANETRIOL; SMITH-LEMLI-OPITZ SYNDROME;

EID: 38449096024     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31901     Document Type: Article

References (20)

1. Bradley LA, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS. 1999. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet 82:355-358.
2. Caughey AB, Hopkins LM, Norton ME. 2006. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 108:612-616.
3. Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, Goryluk-Kozakiewicz B, Nowaczyk MJ, Krajewska-Walasek M. 2006. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Eur J Med Genet 49:499- 504.
4. Craig WY, Haddow JE, Palomaki GE, Kelley RI, Kratz LE, Shackleton CH, Marcos J, Stephen Tint G, MacRae AR, Nowaczyk MJ, Kloza EM, Irons MB, Roberson M. 2006. Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening forDownsyndrome. Prenat Diagn 26:842- 849.
5. Craig WY, Haddow JE, Palomaki GE, Roberson M. 2007. Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). Prenat Diagn 27:409- 414.
6. Guo LW, Shackleton CH, Wilson WK. 2001. Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. Org Lett 3:2547- 2550.
7. Irons M, Elias ER, Salen G, Tint GS, Batta AK. 1993. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414.
8. Jezela-Stanek A, Malunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M. 2006. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: First patient series comparing biochemical and molecular studies. Clin Genet 69:77-85.
9. Kelley RI. 1995. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236:45-58.
10. Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335.
11. Kratz LE, Kelley RI. 1999. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 82:376-381.
12. Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE. 2000. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. Am J Med Genet 95:396-398.
13. Palomaki GE, Bradley LA, Knight GJ, Craig WY, Haddow JE. 2002. Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. J Med Screen 9:43- 44.
14. Seeds JW. 2004. Diagnostic mid trimester amniocentesis: How safe? Am J Obstet Gynecol 191:607-615.
15. Shackleton CH. 2006. Genetic disorders of steroid metabolism diagnosed by mass-spectroscopy. In: Blau N, editor. Laboratory Guide to the Methods in Biochemical Genetics (in press). Berlin: Springer-Verlag.
16. Shackleton CH, Roitman E, Kratz LE, Kelley RI. 1999a. Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. J Clin Endocrinol Metab 84:1157-1159.
17. Shackleton CH, Roitman E, Kratz LE, Kelley RI. 1999b. Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency). Steroids 64:446-452.
18. Shackleton CH, Roitman E, Kratz L, Kelley R. 2001. Dehydrooestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 21:207-212.
19. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. 1994. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113.
20. Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G. 1998. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn 18:651-658.