Prenatal diagnosis of renal cysts and diabetes syndrome (RCAD) managed by continuation of pregnancy and adapted perinatal comfort care

Purpose: Urogenital dysplasia is the third most common of all congenital malformations and can be detected by ultrasound at an early stage. If no renal function is present the termination of pregnancy would be recommended. This can lead to versatile mental, social, and also healthy problems. Continuation of pregnancy and vaginal delivery with specialized perinatal palliation may be an appropriate option. For this reason we present a case of prenatally diagnosed complex renal dysplasia with fatal prognosis.

Material and methods: After the cystic dysplastic kidney (CDK) was detected by ultrasound in the 18+5 week of gestation the patient (inconspicuous medical history) was closely followed up. A midwife, specialized on psychologic antenatal care, and neonatologists were involved in patient-centered care early. Amniocentesis and postmortem fetal examination of the urogenital tract were carried out.

Results: Ultrasound images showed a dystopic CDK in pelvic area and absence of bladder fillings. There was increasing oligohydramnion and restricted fetal growth during the entire period of gestation. Amniocenteses confirmed lack of renal function but no chromosomal aberrances. After stillbirth with 33 weeks of gestation the histopathological examination revealed dextral dystopic CDK combined with sinistral kidney agenesis, ureter agenesis, and unilateral paraganglioma in the abdomen and retroperitoneum*. The patient evaluated the pregnancy-continuation and the postpartum farewell to be positive.

Conclusion: For some women with lethal fetal malformations performance of vaginal delivery and support of specific perinatal comfort care may be more favorable and ethical than pregnancy termination.

*Some genetic assays are pending and will be brought to the convention.