title: Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management.
abstract: Cases where initial prenatal diagnosis was made of isolated unilateral multicystic kidney (UMCK) were reviewed to determine appropriate counselling and management strategies. For the 73 cases, chromosome abnormalities, pregnancy complications and family histories were reviewed. In addition, subsequently diagnosed birth defects, and pediatric medical and surgical outcomes were available for 54 cases. Of those with outcome information available renal/genital-urinary tract abnormalities were diagnosed subsequently in 33% and non-renal abnormalities in 16% of cases. Of the non-renal abnormalities, congenital heart defects were most frequent (7%). One chromosome abnormality, a trisomy 21, was present among 32 cases where karyotypes were known (3%). Amniotic fluid volume abnormalities were present in 11 cases but not predictive of associated anomalies, with the exception of one case where polyhydramnios accompanied multiple malformations consistent with VATER association. A family history of structural renal anomalies was reported in 11 cases (20%). There were 14 cases of partial or complete involution (25%), including two cases of complete prenatal involution of the cystic kidneys. No long-term associated morbidity such as hypertension or malignancy was present in our cohort. Based on our study and corroborating literature, amniocentesis should be offered to women when a seemingly isolated UMCK is detected on routine prenatal ultrasound. Furthermore, a detailed ultrasound with careful assessment of the fetal heart and contralateral kidney is indicated at diagnosis and during the third trimester to assess for further evidence of structural abnormalities, as well as amniotic fluid volume abnormalities. Careful assessment of the newborn is indicated with appropriate speciality referral as required.
authors: Department of Medical Genetics, University of British Columbia, British Columbia's Children's and Women's Hospital, Vancouver, Canada.
authors: G
authors: G
authors: Aubertin
authors: S
authors: S
authors: Cripps
authors: G
authors: G
authors: Coleman
authors: B
authors: B
authors: McGillivray
authors: S L
authors: SL
authors: Yong
authors: M
authors: M
authors: Van Allen
authors: D
authors: D
authors: Shaw
authors: L
authors: L
authors: Arbour
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005315:Fetal Diseases / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008499:Medical Records; D021782:Multicystic Dysplastic Kidney / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D018570:Risk Assessment; D011795:Surveys and Questionnaires; D016896:Treatment Outcome