RESUMEN
Early pregnancy renal anhydramios (EPRA) comprises congenital renal disease that results in fetal anhydramnios by 22 weeks of gestation. It occurs in over 1 in 2000 pregnancies and affects 1500 families in the US annually. EPRA was historically considered universally fatal due to associated pulmonary hypoplasia and neonatal respiratory failure. There are several etiologies of fetal renal failure that result in EPRA including bilateral renal agenesis, cystic kidney disease, and lower urinary tract obstruction. Appropriate sonographic evaluation is required to arrive at the appropriate urogenital diagnosis and to identify additional anomalies that allude to a specific genetic diagnosis. Genetic evaluation variably includes karyotype, microarray, targeted gene testing, panels, or whole exome sequencing depending on presentation. Patients receiving a fetal diagnosis of EPRA should be offered management options of pregnancy termination or perinatal palliative care, with the option of serial amnioinfusion therapy offered on a research basis. Preliminary data from case reports demonstrate an association between serial amnioinfusion therapy and short-term postnatal survival of EPRA, with excellent respiratory function in the neonatal period. A multicenter trial, the renal anhydramnios fetal therapy (RAFT) trial, is underway. We sought to review the initial diagnosis ultrasound findings, genetic etiologies, and current management options for EPRA.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Anomalías Congénitas/diagnóstico por imagen , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales/congénito , Riñón/anomalías , Enfermedades Pulmonares/diagnóstico por imagen , Pulmón/anomalías , Oligohidramnios/diagnóstico por imagen , Obstrucción Ureteral/diagnóstico por imagen , Obstrucción Uretral/diagnóstico por imagen , Anomalías Múltiples/etiología , Aborto Inducido , Líquido Amniótico , Ensayos Clínicos como Asunto , Femenino , Humanos , Infusiones Parenterales , Riñón/diagnóstico por imagen , Enfermedades Renales/complicaciones , Enfermedades Renales/diagnóstico por imagen , Enfermedades Renales Quísticas/complicaciones , Pulmón/diagnóstico por imagen , Enfermedades Pulmonares/etiología , Oligohidramnios/etiología , Oligohidramnios/terapia , Cuidados Paliativos , Embarazo , Insuficiencia Renal , Ultrasonografía Prenatal , Obstrucción Ureteral/complicaciones , Obstrucción Uretral/complicacionesRESUMEN
Objective. Our objective was determining if abnormal Doppler evaluation had a higher prevalence of placental pathology compared to normal Doppler in suspected fetal growth restriction (FGR) of cases delivered at 37 weeks. Study Design. This retrospective cohort study of suspected FGR singletons with antenatal Doppler evaluation delivered at 37 weeks had a primary outcome of the prevalence of placental pathology related to FGR. Significance was defined as p ≤ 0.05. Results. Of 100 pregnancies 46 and 54 were in the abnormal and normal Doppler cohorts, respectively. Placental pathology was more prevalent with any abnormal Doppler, 84.8% versus 55.6%, odds ratio (OR) 4.46, 95% confidence interval (CI): 1.55, 13.22, and p = 0.002. Abnormal middle cerebral artery (MCA) Doppler had a higher prevalence: 96.2% versus 54.8%, OR 20.7, 95% CI: 2.54, 447.1, and p < 0.001. Conclusion. Abnormal Doppler was associated with more placental pathology in comparison to normal Doppler in fetuses with suspected FGR. Abnormal MCA Doppler had the strongest association.