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Amniocentesis performance for genetic disorders in fetuses with isolated ultrasonographic urological abnormalities
Samuel Otis, Katherine Moore, Jean Gekas
Laval University, Quebec, Canada
Introduction
Hydronephrosis is one of the most common anomalies detected prenatally. We aim to determine the association between genetic disorders and frequent urological abnormalities found on prenatal ultrasonography and to determine whether invasive diagnostic techniques like amniocentesis with standard karyotype (ASK) or comparative genomic hybridization (CGH) are relevant.
Methods
Between 2004 and 2017, prospective data were collected on all patients and their fetuses that who underwent ASK or a CGH (n=7688 and 643) for second or third trimester ultrasonographical abnormality. Of these patients, 262 fetuses (3,14%) had ultrasonographic urological abormalities (205 ASK and 57 CGH).
Results
Genetics abnormalities were found in 9 fetuses that had ASK (only 8 pathogenic) (3,86%). All 7 genetics abnormalities found with CGH were pathogenic (12,28%). In the ASK group, the incidence of genetics abnormalities was greater in fetuses with renal agenesis (16.67%) and megacystis (8,33%). Abnormal CGH results were linked to renal agenesis (15,79%) and multicystic dysplastic kidney (15,38%). When urological malformations were detected, 127 (48,47%) abnormalities in other systems were seen. All 8 foetuses with a pathogenic result on ASK had two or more ultrasonographic abnormalities. We found no genetic nor chromosomal abnormality with only isolated urologic abnormality in ASK group. Except one case of multicystic kidney, the same conclusion can be applied to fetuses with available CGH results.
Conclusions
An amniocentesis is relevant in fetuses with multiple ultrasonographic malformations. However, the amniocentesis performance for genetic disorders, seems weak in patients with a single isolated urologic abnormality. This outcome could avoid several invasive procedures.
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