Prenatal diagnosis of renal agenesis
- Tulin Ozcan, MD
Tulin Ozcan, MD
- Associate Professor of Clinical Obstetrics and Gynecology in Surgery
- Center for Fetal Diagnosis and Treatment
- The Children's Hospital of Philadelphia
- Section Editors
- Deborah Levine, MD
Deborah Levine, MD
- Section Editor — Imaging
- Professor of Radiology
- Director of Ob/Gyn Ultrasound
- Department of Radiology
- Beth Israel Deaconess Medical Center
- Laurence S Baskin, MD, FAAP
Laurence S Baskin, MD, FAAP
- Section Editor — Pediatric Urology
- Frank Hinman, Jr., MD, Distinguished Professorship in Pediatric Urology
- Chief Pediatric Urology
- Professor of Urology and Pediatrics
- UCSF Benioff Children's Hospital
Developmental renal defects include: (1) bilateral/unilateral renal agenesis, (2) renal hypodysplasia characterized by a reduction in the number of nephrons leading to a small overall kidney size and frequent dysplasia with or without cysts, and (3) multicystic dysplastic kidney.
A kidney may be absent because it never developed (agenesis) or because of complete regression of a dysplastic kidney (aplasia). In the following topic review, the term renal agenesis will be used to refer to absent kidneys resulting from either of these etiologies (figure 1).
Renal agenesis may be either unilateral or bilateral. Bilateral renal agenesis is incompatible with extrauterine life because prolonged absence of amniotic fluid results in pulmonary hypoplasia leading to severe respiratory insufficiency at birth. The longest-surviving child lived 39 days . However, in a single case of bilateral renal agenesis managed in utero with serial amnioinfusion, survival at nine months was reported at the time of the publication .
Prior to the widespread use of prenatal ultrasonography and availability of legalized pregnancy termination in the United States, the incidence of bilateral renal agenesis was about 1 in 4000 births and about 1 in 250 autopsies of stillbirths and infant deaths [3,4]. It is 2.5 times more common in males than in females .
The incidence of unilateral renal agenesis is about 1 in 1300 births . This is probably an underestimate because many cases remain asymptomatic.
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- EMBRYOLOGY AND PATHOGENESIS
- Normal development of the urinary tract
- Abnormal development of the urinary tract
- RISK FACTORS
- Ultrasound diagnosis
- - Amniotic fluid volume
- - Fetal bladder
- - Fetal kidney
- - Fetal adrenal glands
- - Renal arteries
- Utility of amnioinfusion
- Magnetic resonance imaging
- DIFFERENTIAL DIAGNOSIS
- ASSOCIATED ABNORMALITIES
- OBSTETRICAL MANAGEMENT
- Bilateral renal agenesis
- Unilateral renal agenesis
- SUMMARY AND RECOMMENDATIONS