TY - JOUR
T1 - Etiology and management of early pregnancy renal anhydramnios
T2 - Is there a place for serial amnioinfusions?
AU - Jelin, Angie C.
AU - Sagaser, Katelynn G.
AU - Forster, Katherine R.
AU - Ibekwe, Tochi
AU - Norton, Mary E.
AU - Jelin, Eric B.
N1 - Funding Information:
A.C.J. is funded by grant K23DK119949 from the National Institutes of Health (NIH). The contents of the publication are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. Teresa Sparks is also supported by a grant from the Fetal Health Foundation.
Publisher Copyright:
© 2020 John Wiley & Sons, Ltd.
PY - 2020/4/1
Y1 - 2020/4/1
N2 - 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.
AB - 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.
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U2 - 10.1002/pd.5658
DO - 10.1002/pd.5658
M3 - Review article
C2 - 32003482
AN - SCOPUS:85079845164
SN - 0197-3851
VL - 40
SP - 528
EP - 537
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 5
ER -