Fetal Nephrology: A Quaternary Care Center Experience

KEY POINTS: Specialized fetal centers see a highly complex subset of patients with CAKUT with a predominance of complex or syndromic disease. The mortality rate for fetuses with complex developmental anomalies and CAKUTs or bilateral CAKUTs is high. Prenatal genetic testing was highly variable with limited diagnostic utility while focused postnatal genetic testing had much higher yield.

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUTs) represent 15%–20% of prenatally diagnosed abnormalities. Maternal characteristics, the frequency of various forms of kidney disease including CAKUT referred for prenatal nephrology consultation, and their perinatal outcomes are less well defined.

METHODS: A retrospective chart review was performed of fetal CAKUT and other forms of kidney disease referred for prenatal nephrology consults at Texas Children's Hospital Fetal Center from January 1, 2012, to December 31, 2018.

RESULTS: Two hundred seventeen prenatal nephrology consultations were performed during the study period, representing 4.7% of total Fetal Center referrals at a mean estimated gestational age of 25.2±5.7 weeks. Maternal characteristics were as follows: The mean age was 29.3±5.6 years; 14% had advanced maternal age; 10% had a family history of CAKUT or ESKD; 5% had diabetes mellitus; and 5% of pregnancies were in vitro fertilization-assisted. Fetal characteristics were as follows: 62.7% of fetuses were male and 16% had CAKUT associated with multiple congenital anomalies. The most common prenatal diagnoses were lower urinary tract obstruction in 71 (32.7%), unilateral renal agenesis or multicystic dysplastic kidney (MCDK) in 52 (24.9%), bilateral agenesis or MCDK in 22 (10.1%), and bilateral cystic kidney disease in 19 (8.8%). Seventy-six percent of patients received genetic counseling. One hundred forty-one (64.9%) patients had some form of prenatal genetic testing with a positivity rate of 5.7%. Postnatal characteristics were as follows: 61 (28.1%) patients were seen in prenatal consultation only and no follow-up was available. Of the remaining 156 pregnancies, 136 (86.3%) were viable and delivered at a mean gestational age of 35.2±3.8 weeks. Of these, 100 (64%) survived to discharge. Additional postnatal genetic testing was obtained in 27 infants with a positivity rate of 59%.

CONCLUSIONS: Overall perinatal mortality for this cohort as a whole was high (35.8%). While prenatal genetic testing had a limited diagnostic utility, targeted postnatal genetic testing had a much higher diagnostic yield.