Further insights into implications of undetectable or very low unconjugated estriol in maternal serum during the second trimester

Prenatal Diagnosis

Volumn 31, Issue 6, 2011, Pages 616-618

  Craig, Wendy Y ^a   Palomaki, Glenn ^b   Roberson, Marie ^c   Haddow, James E ^b  

^a FOUNDATION FOR BLOOD RESEARCH   (United States)

^b BROWN UNIVERSITY   (United States)

^c CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

Author keywords

Fetal disorders; Genetic counseling; Maternal serum screening; Single gene disorders; Steroid sulfatase deficiency; Undetectable unconjugated estriol

Indexed keywords

ESTRIOL; STERYL SULFATASE;

ARTICLE; ENZYME DEFICIENCY; ESTRIOL BLOOD LEVEL; HUMAN; MATERNAL SERUM; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; X CHROMOSOME LINKED DISORDER;

BLOOD CHEMICAL ANALYSIS; CONGENITAL ABNORMALITIES; DIAGNOSTIC ERRORS; ESTRIOL; FEMALE; HUMANS; ICHTHYOSIS, X-LINKED; LIMIT OF DETECTION; MALE; MOTHERS; OSMOLAR CONCENTRATION; PREGNANCY; PREGNANCY COMPLICATIONS; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS;

EID: 79956277919     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2754     Document Type: Article

References (10)

1. Bartels I, Caesar J, Sancken U. 1994. Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome. Prenat Diagn 14: 227-229.
2. Bradley LA, Canick JA, Palomaki GE, et al. 1997. Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of perinatal complications associated with placental sulfatase deficiency. Am J Obstet Gynecol 176: 531-535.
3. Craig WY, Haddow JE, Palomaki GE, et al. 2007. Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). Prenat Diagn 27: 409-414.
4. Craig WY, Roberson M, Palomaki GE, et al. 2010. Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. Prenat Diagn 30: 893-898.
5. David M, Israel N, Merksamer R, et al. 1995. Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency. Fetal Diagn Ther 10: 76-79.
6. Jari SD, Fraer LM, Hogge WA. 2004. Association of undetectable unconjugated estriol on multiple marker screening with steroid sulfatase deficiency. Fetal Diagn Ther 19: 43-48.
7. Kent L, Emerton J, Bhadravathi V, et al. 2008. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet 45: 519-524.
8. Marcos J, Craig WY, Palomaki GE, et al. 2009. Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies. Prenat Diagn 29: 771-780.
9. Schleifer RA, Bradley LA, Richards DS, et al. 1995. Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening. Am J Obstet Gynecol 173: 1152-1156.
10. Schoen E, Norem C, O'Keefe J, et al. 2003. Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. Obstet Gynecol 102: 167-172.