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[空肾窝——产前诊断难题]

[Empty renal fossa--a prenatal diagnostic dilemma].

作者信息

Markov D, Atanassova D, Pavlova E, Markov P

出版信息

Akush Ginekol (Sofiia). 2010;49(5):13-9.

PMID:21268397
Abstract

AIM

To assess the feasibility of ultrasound for the prenatal diagnosis and the evaluation of prognosis in cases with empty fetal renal fossa.

METHODS

A prospective observational longitudinal study from September 2007 till May 2010 was performed with high-resolution ultrasound equipment at MC "MARKOVS" and State University Hospital of Ob/Gyne "Maichin dom", Sofia. Seventeen cases with empty fetal renal fossa (EFRF) were prenatally diagnosed. Renal ectopia or unilateral renal agenesis (URA) were the two major differential diagnoses. Cases with bilateral renal agenesis were excluded from further analysis. The following prognostic factors were analyzed: gestational age at diagnosis, type and location of the defect, obstruction of the urinary tract and presence of associated structural fetal abnormalities. Invasive prenatal diagnosis (genetic amniocentesis) and fetal karyotyping was offered if required. Termination of pregnancy was an option in cases diagnosed at earlier gestational age with pessimistic prognosis. All continuing pregnancies were followed-up sonographically, incl. with fetal echocardiography. Pregnancy outcome was ascertained from hospital records, referring physicians and/or the patients themselves.

RESULTS

Overall 17 cases with EFRF were prenatally diagnosed during the study period. The mean gestational age at diagnosis was 22+3 w.g. Prenatal detection of EFRF before 24 w.g. was achieved in 82 (14/17). There were 9 cases of ectopic kidney: 7--pelvic, 1--iliac, 1--crossed fused ectopia. The remaining 8 cases had URA. Empty fetal renal fossa was an isolated finding in 16/17 cases. In the last 17th case the anomaly was part of a malformation complex associated with tetralogy of Fallot and single umbilical artery. No cases with urinary tract obstruction were observed. In 16/17 cases there was favorable perinatal outcome. The remaining pregnancy with associated anomalies was terminated. There was one case with missed diagnosis of URA, detected after birth during an abdominal scan performed for another reason.

CONCLUSIONS

Ultrasound is the method of choice for prenatal diagnosis and prognostic evaluation in cases with EFRF. Early detection allows adequate consultation and pregnancy follow-up. In cases with associated anomalies termination of pregnancy is an option. All continuing pregnancies with EFRF generally have good prognosis and favorable perinatal outcome.

摘要

目的

评估超声用于产前诊断空胎儿肾窝病例及评估预后的可行性。

方法

2007年9月至2010年5月,在索非亚的“马尔科夫斯”医疗中心和妇产科“迈钦多姆”国立大学医院,使用高分辨率超声设备进行了一项前瞻性观察性纵向研究。产前诊断出17例空胎儿肾窝(EFRF)病例。主要的两种鉴别诊断为肾异位或单侧肾缺如(URA)。双侧肾缺如的病例被排除在进一步分析之外。分析了以下预后因素:诊断时的孕周、缺陷的类型和位置、尿路梗阻以及是否存在相关的胎儿结构异常。如有需要,提供侵入性产前诊断(基因羊膜穿刺术)和胎儿核型分析。对于孕早期诊断且预后悲观的病例,可选择终止妊娠。所有继续妊娠的病例均进行超声随访,包括胎儿超声心动图检查。通过医院记录、转诊医生和/或患者本人确定妊娠结局。

结果

在研究期间共产前诊断出17例EFRF病例。诊断时的平均孕周为22 + 3周。82%(14/17)的病例在24周前产前检测到EFRF。有9例异位肾:7例盆腔异位、1例髂窝异位、1例交叉融合异位。其余8例为URA。17例中有16例空胎儿肾窝为孤立发现。在第17例中,该异常是与法洛四联症和单脐动脉相关的畸形综合征的一部分。未观察到尿路梗阻病例。17例中有16例围产期结局良好。其余伴有相关异常的妊娠被终止。有1例URA漏诊,在因其他原因进行腹部扫描时于出生后被发现。

结论

超声是空胎儿肾窝病例产前诊断和预后评估的首选方法。早期检测可进行充分的咨询和妊娠随访。对于伴有相关异常的病例,可选择终止妊娠。所有继续妊娠的EFRF病例通常预后良好,围产期结局良好。

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Akush Ginekol (Sofiia). 2010;49(5):13-9.
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[First trimester cystic structures in the fetalabdomen: diagnosis and prognostic value].[胎儿腹部孕早期囊性结构:诊断及预后价值]
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Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries.先天性单侧肾发育不全:患病率、产前诊断、相关畸形。两个出生缺陷登记处的数据。
Birth Defects Res. 2017 Sep 1;109(15):1204-1211. doi: 10.1002/bdr2.1065. Epub 2017 Jul 19.
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Ultrasound diagnosis of fetal renal abnormalities.超声诊断胎儿肾脏异常。
Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):403-15. doi: 10.1016/j.bpobgyn.2014.01.009. Epub 2014 Jan 29.
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[Ultrasound screening for Down syndrome and other chromosomal abnormalities by fetal nuchal translucency measurement between 11-14 weeks of gestation].[孕11至14周通过测量胎儿颈部透明带厚度进行唐氏综合征及其他染色体异常的超声筛查]
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[First trimester prenatal diagnosis of structural fetal anomalies with three dimensional ultrasound--possibilities and limitations].[孕早期应用三维超声对胎儿结构异常进行产前诊断——可能性与局限性]
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Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.在 11-13 孕周的常规超声检查中诊断胎儿非染色体异常。
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Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries.通过胎儿超声检查对先天性肾畸形进行产前检测:对欧洲12个国家709,030例出生病例的分析
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