PMID- 12424769
OWN - NLM
STAT- MEDLINE
DCOM- 20030429
LR  - 20151119
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 11
DP  - 2002 Nov
TI  - Low or absent unconjugated estriol in pregnancy: an indicator for steroid 
      sulfatase deficiency detectable by fluorescence in situ hybridization and 
      biochemical analysis.
PG  - 1028-32
AB  - It has been previously reported that a low or absent maternal serum unconjugated 
      estriol (uE3) level is associated with placental steroid sulfatase (STS) 
      deficiency. Here we report a correlation between patients who present with a very 
      low or absent maternal serum uE3 and a deletion of the STS gene as assessed by 
      fluorescence in situ hybridization (FISH). We studied nine prenatal cases that 
      presented to the clinical laboratory with an abnormal triple screen, specifically 
      low or absent maternal serum uE3 and a 46,XY karyotype. FISH analysis showed 
      complete deletion of a probe containing the STS gene in six cases and one case 
      had a partial deletion (reduced but not absent signal). The remaining two cases 
      were not deleted for the STS probe. All mothers tested whose fetus showed a 
      deletion were shown to be STS deletion carriers using FISH. Biochemical analysis 
      was performed on 7/9 prenatal specimens. All fetuses deleted for the STS probe 
      were also found to be deficient for STS by biochemical analysis of cultured 
      amniotic fluid (5/5). Of the two fetuses not deleted for the STS probe, one was 
      deficient for STS activity, while the other had a normal result. The abnormal 
      result of enzyme deficiency by biochemical analysis in a non-deletion case likely 
      represents a mutation in the STS gene, not detectable by this FISH assay. 
      Postnatal FISH confirmation of the STS deletion was performed in 1/7 cases. 
      Clinical follow-up was available for 4/9 cases following birth.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Kashork, Catherine D
AU  - Kashork CD
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Sutton, V Reid
AU  - Sutton VR
FAU - Fonda Allen, Jill S
AU  - Fonda Allen JS
FAU - Schmidt, Deborah E
AU  - Schmidt DE
FAU - Likhite, Marisa L
AU  - Likhite ML
FAU - Potocki, Lorraine
AU  - Potocki L
FAU - O'Brien, William E
AU  - O'Brien WE
FAU - Shaffer, Lisa G
AU  - Shaffer LG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Biomarkers)
RN  - EC 3.1.6.1 (Arylsulfatases)
RN  - EC 3.1.6.2 (Steryl-Sulfatase)
RN  - FB33469R8E (Estriol)
SB  - IM
MH  - Adult
MH  - Amniotic Fluid/cytology/*enzymology
MH  - Arylsulfatases/*deficiency/genetics
MH  - Biomarkers/blood
MH  - Chromosomes, Human, X
MH  - Estriol/*blood
MH  - Female
MH  - Follow-Up Studies
MH  - Gene Deletion
MH  - Genetic Diseases, X-Linked/diagnosis
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Pregnancy/*blood
MH  - Prenatal Diagnosis/*methods
MH  - Spectral Karyotyping
MH  - Steryl-Sulfatase
EDAT- 2002/11/09 04:00
MHDA- 2003/04/30 05:00
CRDT- 2002/11/09 04:00
PHST- 2002/11/09 04:00 [pubmed]
PHST- 2003/04/30 05:00 [medline]
PHST- 2002/11/09 04:00 [entrez]
AID - 10.1002/pd.466 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 Nov;22(11):1028-32. doi: 10.1002/pd.466.