Severe antenatally diagnosed renal disorders: background, prognosis and practical approach

Aulbert, Wiebke; Kemper, Markus J.

doi:10.1007/s00467-015-3140-4

Cited by 34 publications

(19 citation statements)

References 73 publications

(64 reference statements)

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“…Underlying pathologies most often are associated with one of the three entities: (1) bilateral renal agenesis and/or hypo-/dysplasia, (2) urinary tract obstruction or (3) autosomal recessive polycystic kidney disease (ARPKD). These diseases lead to a lower urinary output in the fetus and subsequently to less amniotic fluid after the first trimester when the production of urine by the fetus sets in, contributing significantly to the amniotic fluid volume [1].…”

Section: Introductionmentioning

confidence: 99%

“…In Germany, these are provided at weeks 10, 20 and 30 of gestation. ROH is defined by surrogate parameters of the amniotic fluid volume measured by ultrasound, such as the amniotic fluid index or single deepest pocket [1]. Although the ultrasound criteria for diagnosis are still a matter of debate, an amniotic fluid index of < 5 cm is widely used as a definition of ROH [3].…”

Section: Introductionmentioning

confidence: 99%

“…The postnatal course is dominated by lung hypoplasia and chronic kidney disease (CKD) [1]. Lung hypoplasia is one of the main causes of neonatal morbidity and mortality.…”

Section: Introductionmentioning

confidence: 99%

“…Advances in treating respiratory failure and performing dialysis in even very small infants have tremendously improved survival and short-as well as long-term outcome in affected children. In this context, TOP is generally not longer recommended [1].…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, some studies have focused on the assessment of biochemical markers in fetal urine or blood to predict the postnatal outcome of kidney function. These markers include urinary sodium, chloride and urinary and s e r u m β 2 -m i c r o g l o b u l i n a n d c y s t a t i n C [ 1 ] . Unfortunately, none of these markers (alone or in combination) has sufficient sensitivity or specificity to predict postnatal outcome.…”

Section: Introductionmentioning

confidence: 99%

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Causes of renal oligohydramnios: impact on prenatal counseling and postnatal outcome

Loos

Kemper

2017

Pediatr Nephrol

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The presence of renal oligohydramnios (ROH) in a fetus has been associated in the past with a poor prognosis for survival, although recent studies have shown that survival has improved considerably due to the advances in neonatology and pediatric nephrology. In an article recently published in Pediatric Nephrology, evaluation of a large series by Mehler and colleagues confirms the improved prognosis, showing a survival rate of 32 of 38 (84%). In addition, only 12 of 35 (34%) neonates required renal replacement therapy. In five of these 12 children the dialysis could be terminated after the neonatal period. This study has important implications on the decision-making process and counseling of families. While 37% of families of the study opted for termination of pregnancies, palliative care was chosen by 8% of the families, representing an important option when a decision cannot be made rapidly by affected families. A multidisciplinary approach is not only necessary in the active treatment of neonates with a history of ROH but also in antenatal counseling. In this regard future efforts should establish consensus on an ethical framework for the decision-making process in ROH.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…The postnatal course is dominated by lung hypoplasia and chronic kidney disease (CKD) [1]. Lung hypoplasia is one of the main causes of neonatal morbidity and mortality.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Causes of renal oligohydramnios: impact on prenatal counseling and postnatal outcome

Loos

Kemper

2017

Pediatr Nephrol

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Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases

et al. 2018

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IMPORTANCEPrenatal and neonatal cystic kidney diseases are a group of rare disorders manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of the renal cortex without macroscopic cysts. They may be accompanied by grossly enlarged kidneys, renal oligohydramnios, pulmonary hypoplasia, extrarenal abnormalities, and neonatal kidney failure. The prognosis is extremely variable from trivial to very severe or even uniformly fatal, which poses significant challenges to prenatal counseling and management.OBJECTIVE To provide a clinical practice recommendation for fetal medicine specialists, obstetricians, neonatologists, pediatric nephrologists, pediatricians, and human geneticists by aggregating current evidence and consensus expert opinion on current management of cystic nephropathies before and after birth.METHODS After 8 systematic literature reviews on clinically relevant questions were prepared (including 90 studies up to mid-2016), recommendations were formulated and formally graded at a consensus meeting that included experts from all relevant specialties. After further discussion, the final version was voted on by all members using the Delphi method. The recommendations were reviewed and endorsed by the working groups on inherited renal disorders of the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) and European Society for Paediatric Nephrology (ESPN); the German Society of Obstetrics and Gynecology (DGGG), German Society of Perinatal Medicine (DGPM), and German Society of Ultrasound in Medicine (DEGUM); and the alliance of patient organizations, PKD International. RECOMMENDATIONSThe group makes a number of recommendations on prenatal and postnatal imaging by ultrasound and magnetic resonance imaging, genetic testing, prenatal counseling, in utero therapeutic interventions, and postnatal management of prenatal and neonatal cystic kidney diseases, including provision of renal replacement therapy in neonates. In addition to detailed knowledge about possible etiologies and their prognosis, physicians need to be aware of recent improvements and remaining challenges of childhood chronic kidney disease, neonatal renal replacement therapy, and intensive pulmonary care to manage these cases and to empower parents for informed decision making.

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Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound

Liu

et al. 2022

Prenatal Diagnosis

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Objectives: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). Methods:Fetuses with renal abnormalities were subjected to CMA and were further analysed by WES when CMA-negative. The detection rates for chromosomal abnormalities and monogenic variants among different types of isolated renal abnormalities and those with extrarenal abnormalities (non-isolated cases) were determined and compared.Results: CMA detected chromosomal abnormalities in 78 of 577 fetuses (13.52%).WES detected monogenic variants in 31 of 160 fetuses (19.38%) that had nondiagnostic CMA results. In cases of isolated hyperechogenic kidney, polycystic kidney disease, and multicystic dysplastic kidney, the detection rates of copy number variants (CNVs) by CMA and monogenic variants by WES were not significantly different (p > 0.05). However, monogenic variants were more frequently detected than CNVs when kidney abnormalities were accompanied by reduced amniotic fluid (p < 0.05). Other renal abnormalities identified on prenatal ultrasound had different detection rates. Conclusions:Our findings contribute to the overall knowledge of genetic variants associated with prenatally identified renal anomalies and may aid in decision making regarding prenatal genetic testing options for affected pregnancies. Key pointsWhat's already known about this topic?� Fetal renal abnormalities are some of the common and most easily detectable anomalies on ultrasound. The disease has a wide range of prenatal phenotypes with distinct prognoses and etiologies. Studies have shown that fetal renal abnormalities may be related to certain genetic disorders or syndromes. However, one of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype-phenotype correlation.

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Severe antenatally diagnosed renal disorders: background, prognosis and practical approach

Abstract: Nowadays most renal disorders, especially urinary tract malformations and renal cystic disease, are diagnosed antenatally.

Cited by 34 publications

References 73 publications

Causes of renal oligohydramnios: impact on prenatal counseling and postnatal outcome

Causes of renal oligohydramnios: impact on prenatal counseling and postnatal outcome

Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases

Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound

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