Section of Nephrology, Department of Pediatrics, University of Puerto Rico School of Medicine.
Division of Pediatric Nephrology, Department of Pediatrics, Baylor College of Medicine.
Kidney360. 2023 Mar 1;4(3):333-340. doi: 10.34067/KID.0004782022.
Specialized fetal centers see a highly complex subset of patients with CAKUT with a predominance of complex or syndromic disease. The mortality rate for fetuses with complex developmental anomalies and CAKUTs or bilateral CAKUTs is high. Prenatal genetic testing was highly variable with limited diagnostic utility while focused postnatal genetic testing had much higher yield.
Congenital anomalies of the kidney and urinary tract (CAKUTs) represent 15%–20% of prenatally diagnosed abnormalities. Maternal characteristics, the frequency of various forms of kidney disease including CAKUT referred for prenatal nephrology consultation, and their perinatal outcomes are less well defined.
A retrospective chart review was performed of fetal CAKUT and other forms of kidney disease referred for prenatal nephrology consults at Texas Children's Hospital Fetal Center from January 1, 2012, to December 31, 2018.
Two hundred seventeen prenatal nephrology consultations were performed during the study period, representing 4.7% of total Fetal Center referrals at a mean estimated gestational age of 25.2±5.7 weeks. Maternal characteristics were as follows: The mean age was 29.3±5.6 years; 14% had advanced maternal age; 10% had a family history of CAKUT or ESKD; 5% had diabetes mellitus; and 5% of pregnancies were fertilization-assisted. Fetal characteristics were as follows: 62.7% of fetuses were male and 16% had CAKUT associated with multiple congenital anomalies. The most common prenatal diagnoses were lower urinary tract obstruction in 71 (32.7%), unilateral renal agenesis or multicystic dysplastic kidney (MCDK) in 52 (24.9%), bilateral agenesis or MCDK in 22 (10.1%), and bilateral cystic kidney disease in 19 (8.8%). Seventy-six percent of patients received genetic counseling. One hundred forty-one (64.9%) patients had some form of prenatal genetic testing with a positivity rate of 5.7%. Postnatal characteristics were as follows: 61 (28.1%) patients were seen in prenatal consultation only and no follow-up was available. Of the remaining 156 pregnancies, 136 (86.3%) were viable and delivered at a mean gestational age of 35.2±3.8 weeks. Of these, 100 (64%) survived to discharge. Additional postnatal genetic testing was obtained in 27 infants with a positivity rate of 59%.
Overall perinatal mortality for this cohort as a whole was high (35.8%). While prenatal genetic testing had a limited diagnostic utility, targeted postnatal genetic testing had a much higher diagnostic yield.
专门的胎儿中心诊治一组高度复杂的 CAKUT 患者，以复杂或综合征疾病为主。伴有复杂发育异常和 CAKUT 或双侧 CAKUT 的胎儿死亡率较高。产前基因检测差异较大，诊断效果有限，而针对性的产后基因检测则有更高的阳性率。
先天性肾和尿路异常（CAKUT）占产前诊断异常的 15%-20%。母体特征、接受产前肾病会诊的各种形式的肾脏疾病（包括 CAKUT）的频率及其围产期结局定义尚不明确。
对 2012 年 1 月 1 日至 2018 年 12 月 31 日在德克萨斯儿童医学中心胎儿中心接受产前肾病会诊的胎儿 CAKUT 和其他形式的肾脏疾病进行了回顾性图表分析。
研究期间共进行了 217 次产前肾病会诊，占胎儿中心总转诊的 4.7%，平均估计胎龄为 25.2±5.7 周。母体特征如下：平均年龄为 29.3±5.6 岁；14%的患者为高龄产妇；10%的患者有 CAKUT 或 ESKD 家族史；5%的患者患有糖尿病；5%的妊娠为辅助生殖。胎儿特征如下：62.7%的胎儿为男性，16%的胎儿伴有 CAKUT 合并多种先天性异常。最常见的产前诊断为下尿路梗阻 71 例（32.7%），单侧肾发育不全或多囊性发育不良肾 52 例（24.9%），双侧发育不全或多囊性发育不良肾 22 例（10.1%），双侧囊性肾病 19 例（8.8%）。76%的患者接受了遗传咨询。141 例（64.9%）患者接受了某种形式的产前基因检测，阳性率为 5.7%。产后特征如下：61 例（28.1%）患者仅在产前接受了会诊，无法提供后续情况。在其余 156 例妊娠中，136 例（86.3%）为活产，平均胎龄为 35.2±3.8 周。其中，100 例（64%）存活至出院。对 27 例婴儿进行了额外的产后基因检测，阳性率为 59%。
该队列的整体围产期死亡率较高（35.8%）。虽然产前基因检测的诊断效果有限，但针对性的产后基因检测有更高的阳性率。
