Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

Tsatsaris, Vassilis; Gagnadoux, Marie‐France; Aubry, Marie Cécile; Gubler, Marie–Claire; Dumez, Yves; Dommergues, Marc

doi:10.1046/j.1471-0528.2002.02055.x

Cited by 78 publications

(70 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Besides reporting for the first time the presence of a high prevalence of TCF2 gene anomalies in antenatal hyperechogenic kidneys, we confirm the typical in utero presentation of ARPKD with enlarged hyperechogenic kidneys Ͼ2 SD with loss of corticomedullary differentiation, presumably as a result of the numerous small cysts that are undetectable by ultrasound and the constant decrease in amniotic fluid volume (1,2,21). These characteristics resulted in TOP in 10 of 12 cases and one neonatal death in our cohort.…”

Section: Discussionsupporting

confidence: 84%

“…Several data showed that enlargement of the kidneys Ͼ2 SD and severe oligohydramnios are predictive markers of poor renal function (1,2). However, the postnatal prognosis of renal dysplasia with normal amniotic fluid is very difficult to predict (35,36).…”

Section: Discussionmentioning

confidence: 99%

“…The remaining causes include transient hyperechogenicity, tubulopathies, tuberous sclerosis, tubular dysgenesis, and miscellaneous diseases (1).…”

mentioning

confidence: 99%

See 2 more Smart Citations

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

Decramer

Parant

Beaufils³

et al. 2007

Journal of the American Society of Nephrology

223

194

View full text Add to dashboard Cite

Prenatal discovery of fetal bilateral hyperechogenic kidneys is very stressful for pregnant women and their family, and accurate diagnosis of the cause of the moderate forms of this pathology is very difficult. Hepatocyte nuclear factor-1␤ that is encoded by the TCF2 gene is involved in the embryonic development of the kidneys. Sixty-two pregnancies with fetal bilateral hyperechogenic kidneys including 25 fetuses with inaccurate diagnosis were studied. TCF2 gene anomalies were detected in 18 (29%) of these 62 patients, and 15 of these 18 patients presented a complete heterozygous deletion of the TCF2 gene. Family screening revealed de novo TCF2 anomalies in more than half of the patients. TCF2 anomalies were associated with normal amniotic fluid volume and normal-sized kidneys between ؊2 and ؉2 SD in all patients except for two sisters. Antenatal cysts were detected in 11 of 18 patients, unilaterally in eight of 11. After birth, cysts appeared during the first year (17 of 18), and in patients with antenatal cysts, the number increased and developed bilaterally with decreased renal growth. In these 18 patients, the GFR decreased with longer follow-up and was lower in patients with solitary functioning dysplastic kidney. Heterozygous deletion of the TCF2 gene is an important cause of fetal hyperechogenic kidneys in this study and showed to be linked with early disease expression. The renal phenotype and the postnatal evolution were extremely variable and need a prospective long-term follow-up. Extrarenal manifestations are frequent in TCF2-linked pathologies. Therefore, prenatal counseling and follow-up should be multidisciplinary.

show abstract

Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

Decramer

Parant

Beaufils³

et al. 2007

Journal of the American Society of Nephrology

223

194

View full text Add to dashboard Cite

show abstract

“…These factors may have an important impact for prenatal counseling. However, postnatal kidney function is difficult to predict based on ultrasound studies, especially the long-term outcome [4,5]. Magnetic resonance imaging scans can provide additional information on fetal urinary tract abnormalities in some cases, but these have not been evaluated as a modality to predict postnatal outcome [6,7].…”

Section: Introductionmentioning

confidence: 99%

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

Loos

Kemper

2017

Pediatr Nephrol

View full text Add to dashboard Cite

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.

show abstract

“…In one study of fetal hyperechogenic kidneys (mostly due to ARPKD), the presence of ROH and a kidney size of >4 standard deviations (SD) had a negative impact on outcome [17]. Morris et al [18] performed a systematic review that included 215 pregnancies with ultrasound evidence of congenital LUTO in which they evaluated the accuracy of fetal ultrasound to predict postnatal renal function.…”

Section: Antenatal Imaging Of the Fetal Urogenital Tract And Lungsmentioning

confidence: 99%

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

Aulbert

Kemper

2015

Pediatr Nephrol

View full text Add to dashboard Cite

show abstract

Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

Abstract: Aetiology could not be established prenatally in the absence of familial data. Kidney size and amniotic fluid volume were the best prenatal predictors of outcome.

Cited by 78 publications

References 15 publications

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

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

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

Contact Info

Product

Resources

About