Fontanella Federica, Duin Leonie, Adama van Scheltema Phebe N, Cohen-Overbeek Titia E, Pajkrt Eva, Bekker Mireille, Willekes Christine, Bax Caroline J, Oepkes Dick, Bilardo Catia M
Department of Obstetrics, Gynecology and Prenatal Diagnosis, University Medical Center Groningen, University of Groningen, Groningen, The
Department of Obstetrics, Gynecology and Prenatal Diagnosis, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Fetal Diagn Ther. 2019;45(3):155-161. doi: 10.1159/000488282. Epub 2018 May 17.
To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethral atresia.
A retrospective national study was conducted in fetuses with megacystis detected before 17 weeks' gestation (early megacystis).
In total, 142 cases with fetal megacystis were included in the study: 52 with lower urinary tract obstruction, 29 with normal micturition at birth, and 61 with miscellaneous syndromal associations, chromosomal and multiple structural abnormalities (complex megacystis). Only a nuchal translucency > 95th centile, and not a longitudinal bladder diameter ≤15 mm (p = 0.24), significantly increased the risk of complex megacystis (p < 0.01). Cases with a high chance of spontaneous resolution were identified by using the cut-off of 12 mm, as demonstrated in a previous study, and the finding of an associated umbilical cord cyst carried a high-risk of urethral atresia (odds ratio: 15; p = 0.026), an unfavorable condition for antenatal treatment. An algorithm encompassing these three criteria demonstrated good accuracy in selecting fetuses theoretically eligible for fetal treatment (specificity 73%; sensitivity 92%).
Cases theoretically eligible for early fetal therapy are those with normal nuchal translucency, a longitudinal bladder diameter > 12 mm, and without ultrasound evidence of umbilical cord cysts.
探讨将孤立性后尿道瓣膜胎儿与因复杂巨膀胱、自发消退可能性高及尿道闭锁而理论上不适合胎儿治疗的胎儿进行鉴别的最佳标准。
对妊娠17周前检测出巨膀胱（早期巨膀胱）的胎儿进行一项全国性回顾性研究。
本研究共纳入142例胎儿巨膀胱病例：52例存在下尿路梗阻，29例出生时排尿正常，61例伴有各种综合征、染色体及多种结构异常（复杂巨膀胱）。仅颈部透明带厚度>第95百分位数，而非膀胱纵径≤15 mm（p = 0.24），会显著增加复杂巨膀胱的风险（p < 0.01）。如先前研究所示，采用12 mm的临界值可识别出自发消退可能性高的病例，且发现合并脐尿管囊肿具有尿道闭锁的高风险（优势比：15；p = 0.026），这是产前治疗的不利情况。包含这三个标准的算法在选择理论上适合胎儿治疗的胎儿方面显示出良好的准确性（特异性73%；敏感性92%）。
理论上适合早期胎儿治疗的病例是那些颈部透明带厚度正常、膀胱纵径>12 mm且超声检查无脐尿管囊肿证据的胎儿。
