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PRENATAL DIAGNOSIS OF URINARY TRACT
ABNORMALITIES(UTA) AS MARKERS FOR TRISOMY 21
Guy VERHOVSKY, Amos NEHEMAN and Amnon ZISMAN
Assaf Harofeh Medical Center, Urology, Zerifin, ISRAEL
PURPOSE
Prenatal hydronephrosis is considered a soft marker for trisomy 21. The objective of this study was
to evaluate the significance of urinary tract abnormality (UTA) especially hydronephrosis, diagnosed
during second trimester US screening in a population of consecutive aborted fetuses.
MATERIAL AND METHODS
Retrospective study of all consecutive fetuses aborted between January 1998 to April 2014. All
cases with sufficient data regarding fetus karyotype by amniocintesis\choriocyntesis were included.
Fetus with trisomy 21 were compared to those aborted for other reasons rather than aneoplodity.
RESULTS
Out of 2700 consecutive abortions, 951 cases have sufficient data regarding karyotype (540 with
trisomy 21 and 411 with normal karyotype).
The main causes for abortion in the non-trisomy group: combination of multiple anomalies 31%,
cardiopulmonary anomalies 20.4% and CNS anomalies 16.3%.
UTA were found in 35(6.5%) in trisomy 21 group, 13(2.4%) as a solitary finding and 22(4.1%) as
a part of multiple anomalies.
In non-trisomy group UTA was found in 52(12.6%), solitary finding in 27(6.6%) and 25(6%) as part
of multiple anomalies.
Isolated hydronephrosis was found in 12 cases of the trisomy 21 group and 8 in the non-trisomy
21 group (P=0.7).
In all fetuses , hydronephrosis was present in 34/35(97%) of trisomy 21 and only in 12/52(23%) of
normal karyotype fetuses (p<0.01).
In fetuses with normal triple test and nuchal translucency in whom amniocintesis\choriocyntesis
was performed , there were 13 cases of trisomy 21, hydronephrosis present in only 2 of them, and
64 cases of non-trisomy with hydronephrosis present in 6 of them ( P=0.28).
CONCLUSIONS
UTA’s are not more prevalent in trisomy 21.
Hydronephrosis is the most common anomaly in trisomy 21 fetuses in our specific population but
the diagnosis of hydronephrosis as a single anomaly is not a substantial marker and should not elicit
further diagnostic tests.
Fetus with UTA’s other than hydronephrosis have a reduces risk for trisomy 21.
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Discussion