Page 7 - CUA2019 Abstracts - Pediatric Urology

Poster session 6: Pediatrics

(13%), micturition disorder (11%), and cryptorchidism and retractile tes- Methods: Between 2004 and 2017, prospective data were collected on
ticles (8%). Of all patients seen for phimosis or cryptorchidism, only 24% all patients and their fetuses who underwent ASK or a CGH (n=7688
and 36% of them, respectively, were scheduled for surgery. and 643) for second- or third-trimester ultrasonographical abnormality.
Conclusions: Phimosis, cryptorchidism, and voiding disorders were the most Of these patients, 262 fetuses (3,14%) had ultrasonographic urological
frequent pediatric urological reasons for consultation. Continuing medical abnormalities (205 ASK and 57 CGH).
education for the primary care providers is worthwhile and would save Results: Genetics abnormalities were found in nine fetuses that had
families unnecessary travelling. It would, perhaps, be more beneficial for ASK (only eight pathogenic) (3,86%). All seven genetics abnormalities found
all to have the pediatric urologists travelling to perform clinics and surgeries with CGH were pathogenic (12.28%). In the ASK group, the incidence of
in distant regions to save more than 300 km round trip for several families. genetic abnormalities was greater in fetuses with renal agenesis (16.67%)
and megacystis (8.33%). Abnormal CGH results were linked to renal agen-
UP-6.5 esis (15.79%) and multicystic dysplastic kidney (15.38%). When urological
malformations were detected, 127 (48.47%) abnormalities in other systems
Amniocentesis performance for genetic disorders in fetuses with were seen. All eight fetuses with a pathogenic result on ASK had two or
isolated ultrasonographic urological abnormalities more ultrasonographic abnormalities. We found no genetic or chromo-
Samuel Otis-Chapados , Katherine Moore , Kathy Gouin , Jean Gekas 2 somal abnormality with only isolated urological abnormality in the ASK
1
1
2
1 Pediatric Urology, CHU de Québec (CHUL) - Université Laval, Québec group. Except for one case of multicystic kidney, the same conclusion can
City, QC, Canada; Mother and Child Centre, CHU de Québec - Université be applied to fetuses with available CGH results.
2
Laval Research Centre, Québec City, QC, Canada Conclusions: An amniocentesis is relevant in fetuses with multiple ultra-
Introduction: Hydronephrosis is one of the most common anomalies sonographic malformations. However, the amniocentesis performance for
detected prenatally. We aimed to determine the association between genetic disorders seems weak in patients with a single, isolated urologi-
genetic disorders and frequent urological abnormalities found on prenatal cal abnormality. This outcome could avoid several invasive procedures.
ultrasonography and to determine whether invasive diagnostic techniques,
like amniocentesis with standard karyotype (ASK) or comparative genomic
hybridization (CGH), are relevant.

CUAJ • June 2019 • Volume 13, Issue 6(Suppl5) S129