Associated Malformations and Chromosomal Defects in Antenatally Diagnosed Hydronephrosis

Kwak, Na Hyun; Han, Sung Woo; Jung, Ji Mi; Jeon, Ga Won; Sin, Jong Beom

Abstract

PURPOSE
With the increasing use of antenatal sonography, fetal hydronephrosis has been reported more frequently. But, despite extensive clinical and scientific research much controversy still exists about the assessment and management of hydronephrosis. We performed a retrospective study to determine the frequency of associated malformations and chromosomal defects in prenatally diagnosed hydronephrosis.
METHODS
The records of 297 neonates who were diagnosed with hydronephrosis through antenatal ultrasonographic screening, were retrospectively analyzed. They were confirmed at 3 days to 1 month after birth with postnatal ultrasonography in Busan Paik Hospital, between January 2000 and December 2008. We karyotyped 297 neonates after ultrasonographic examination revealed hydronephrosis and malformations.
RESULTS
Chromosomal abnormalities were detected in 31 (11%) cases of 297 cases and more common in female than male. The commonest chromosomal abnormality was trisomy 21, followed by Turner syndrome, deletion of autosome, unbalanced translocation. 127 cases in 109 infants had associated malformations such as urogenital and cardiovascular and gastrointestinal anomalies. The associated malformations were more common in moderate to severe hydronephrosis than mild and the number of additional abnormalities increased with the chromosomal defects.
CONCLUSION
Particular attention should be paid for the cases in congenital hydronephrosis with any associated malformation such as urogenital and cardiac malformation, to investigate chromosomal abnormalities. This will enable clinicians to establish appropriate management and postnatal care.