Genetic testing and pregnancy outcome of 337 fetuses with urinary system anomalies / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 306-309, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-772020
ABSTRACT
OBJECTIVE@#To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies.@*METHODS@#Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis.@*RESULTS@#Ultrasonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes.@*CONCLUSION@#Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Issue de la grossesse
/
Césarienne
/
Dépistage génétique
/
Échographie prénatale
/
Aberrations des chromosomes
/
Variations de nombre de copies de segment d'ADN
/
Foetus
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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