Spaggiari Emmanuel, Stirnemann Julien J, Heidet Laurence, Dreux Sophie, Ville Yves, Oury Jean-Francois, Delezoide Anne-Lise, Muller Françoise
Developmental Biology, Robert Debré Hospital, AP-HP, Paris, France.
Prenat Diagn. 2013 Dec;33(12):1167-72. doi: 10.1002/pd.4217. Epub 2013 Sep 1.
The aim of this research was to evaluate the outcome and prognostic value of fetal serum β2-microglobulin in case of prenatal diagnosis of severe bilateral renal hypoplasia.
Cases of hypoplastic kidneys were detected on ultrasound and referred to our laboratory for determination of fetal blood β2-microglobulin, over a 12-year period. Prenatal prognostic assessment was based upon amniotic fluid volume and fetal serum β2-microglobulin (cut-off: 5 mg/L). Outcome measures were postnatal renal function or renal pathological features when termination of pregnancy (TOP) and genetic studies were performed.
A total of 34 cases were identified; 13 (38%) were liveborn and 21 (62%) underwent TOP. Renal hypoplasia was confirmed postnatally in all cases. Oligohydramnios/anhydramnios was observed in 30/34 (88%) cases. Associated genetic or anatomical anomalies were found in 8/34 (24%) cases. Renal function of liveborn infants was normal in 4/13 cases. Renal lesions were observed in all TOPs (21/21 cases). Overall, 30/34 (88.2%) cases had a poor outcome. β2-microglobulin accurately predicts poor renal outcome in 27/31 (87.1%) cases. β2-microglobulin was not interpretable in three cases due to amniotic fluid contamination. The prognostic value of β2-microglobulin was similar to that of amniotic fluid volume assessment.
Hypoplastic kidneys complicated by oligohydramnios/anhydramnios are associated with poor outcome. Fetal serum β2-microglobulin and oligohydramnios both predicted poor outcome.
本研究旨在评估胎儿血清β2微球蛋白在严重双侧肾发育不全产前诊断中的结果及预后价值。
在12年期间，通过超声检测出肾发育不全的病例，并将其转诊至我们实验室测定胎儿血β2微球蛋白。产前预后评估基于羊水体积和胎儿血清β2微球蛋白（临界值：5mg/L）。结局指标为终止妊娠（TOP）时的产后肾功能或肾脏病理特征以及进行的基因研究。
共识别出34例病例；13例（38%）存活出生，21例（62%）接受了TOP。所有病例产后均确诊为肾发育不全。30/34例（88%）观察到羊水过少/无羊水。8/34例（24%）发现相关的基因或解剖异常。13例存活出生婴儿中4例肾功能正常。所有TOP病例（21/21例）均观察到肾脏病变。总体而言，30/34例（88.2%）结局不良。β2微球蛋白在27/31例（87.1%）病例中准确预测了不良肾脏结局。由于羊水污染，3例中β2微球蛋白无法解读。β2微球蛋白的预后价值与羊水体积评估相似。
合并羊水过少/无羊水的肾发育不全与不良结局相关。胎儿血清β2微球蛋白和羊水过少均预测了不良结局。
