Association of undetectable unconjugated estriol on multiple marker screening with steroid sulfatase deficiency.
OBJECTIVE
To determine whether all patients with undetectable unconjugated estriol (uE3) on multiple marker screening (MMS) are carriers for steroid sulfatase (STS) deficiency.


METHODS
This is a retrospective review of 65 pregnancies with undetectable uE3 on MMS.


RESULTS
Of the 65 pregnancies, there were 21 that continued, 40 spontaneous losses, 2 lost to follow-up and 2 elective terminations. Of the 21 continuing pregnancies, 15 were determined to be carriers of the STS deletion. Twenty-seven of the 40 pregnancy losses were associated with elevated alpha-fetoprotein (AFP); about half of the losses were shown to have occurred prior to sampling.


CONCLUSIONS
Patients with undetectable uE3 are likely to be carriers of the STS deletion, except those with associated elevated AFP. Elevated AFP with undetectable uE3 on MMS is a marker of preexisting or impending fetal demise.
Jari
Shama D
SD
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pa. 15213, USA.
Fraer
Luanne M
LM
Hogge
W Allen
WA
D000022:Abortion, Spontaneous; D015415:Biomarkers / Q000097:blood*; D006063:Chorionic Gonadotropin / Q000097:blood; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis; D004964:Estriol / Q000097:blood*; D005260:Female; D006801:Humans; D016114:Ichthyosis, X-Linked; D008297:Male; D011247:Pregnancy; D012189:Retrospective Studies; D043266:Steryl-Sulfatase / Q000235:genetics; D014314:Trisomy; D000509:alpha-Fetoproteins / Q000032:analysis
D015415:Biomarkers; D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D043266:Steryl-Sulfatase; D004964:Estriol