TY - JOUR
T1 - Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus
T2 - Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol
AU - Shinawi, Marwan
AU - Szabo, Sara
AU - Popek, Edwina
AU - Wassif, Christopher A.
AU - Porter, Forbes D.
AU - Potocki, Lorraine
PY - 2005/9/15
Y1 - 2005/9/15
N2 - Smith-Lemli-Opitz syndrome (SLOS), or RSH, is an autosomal recessive disorder caused by mutations of the gene encoding 7-dehydrocholesterol reductase (DHCR7). The utility of maternal serum screens and ultrasound as prenatal screening methods for SLOS is presently undetermined. We report the clinical, cytogenetic, biochemical, and molecular findings of a stillborn with SLOS. The diagnosis was made postnatally on the basis of physical findings and confirmed by biochemical and DNA analyses of fetal tissue. Although abnormalities were detected by maternal serum triple screen and prenatal ultrasonography, a diagnosis of SLOS was not suspected before delivery. This study demonstrates that patients with SLOS may escape prenatal diagnosis despite the presence of multiple anomalies and abnormal maternal serum screen results, and lends support for consideration of prenatal biochemical testing for SLOS in pregnancies with these findings. As SLOS is a severe autosomal recessive disorder with a recurrence risk of 25%, ultrasonographic, cytogenetic, and biochemical analyses in the second trimester should be considered if abnormal maternal serum screening results, specifically low levels of unconjugated estriol, are detected.
AB - Smith-Lemli-Opitz syndrome (SLOS), or RSH, is an autosomal recessive disorder caused by mutations of the gene encoding 7-dehydrocholesterol reductase (DHCR7). The utility of maternal serum screens and ultrasound as prenatal screening methods for SLOS is presently undetermined. We report the clinical, cytogenetic, biochemical, and molecular findings of a stillborn with SLOS. The diagnosis was made postnatally on the basis of physical findings and confirmed by biochemical and DNA analyses of fetal tissue. Although abnormalities were detected by maternal serum triple screen and prenatal ultrasonography, a diagnosis of SLOS was not suspected before delivery. This study demonstrates that patients with SLOS may escape prenatal diagnosis despite the presence of multiple anomalies and abnormal maternal serum screen results, and lends support for consideration of prenatal biochemical testing for SLOS in pregnancies with these findings. As SLOS is a severe autosomal recessive disorder with a recurrence risk of 25%, ultrasonographic, cytogenetic, and biochemical analyses in the second trimester should be considered if abnormal maternal serum screening results, specifically low levels of unconjugated estriol, are detected.
KW - 7-dehydrocholesterol
KW - Fetal demise
KW - Smith-Lemli-Opitz syndrome
KW - Unconjugated estriol
UR - http://www.scopus.com/inward/record.url?scp=24344469548&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30898
DO - 10.1002/ajmg.a.30898
M3 - Article
C2 - 16097001
AN - SCOPUS:24344469548
VL - 138 A
SP - 56
EP - 60
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -