PDF(Pubmed)
Abstract：
To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic shunting (VAS) with the Somatex® shunt in a single center.
Retrospective analysis of 46 fetuses with megacystis that underwent VAS either up to 14 + 0 weeks (early VAS), between 14 + 1 and 17 + 0 weeks (intermediate VAS) or after 17 + 0 weeks of gestation (late VAS) in a single tertiary referral center. Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational age at first VAS.
46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacystis with either aneuploidy (n = 1), anorectal malformations (n = 6), cloacal malformations (n = 3), congenital anomalies overlapping with VACTER association (n = 6) or Megacystis-Microcolon Intestinal-Hypoperistalsis Syndrome (MMIHS) (n = 2). The sonographic \'keyhole sign\' significantly predicted isolated megacystis (p < 0.001). 7 pregnancies were terminated, 4 babies died in the neonatal period, 1 baby died at the age of 2.5 months and 34 (74%) infants survived until last follow-up. After exclusion of the terminated pregnancies, intention-to-treat survival rate was 87%. Mean follow-up period was 24 months (range 1-72). The underlying pathology was highly variable and included posterior urethral valve (46%), hypoplastic or atretic urethra (35%), MMIHS or prune belly syndrome (10%) and primary vesico-ureteral reflux (2%). In 7% no pathology could be detected postnatally. No sonographic marker was identified to predict the underlying pathology prenatally. 14 fetuses underwent early, 24 intermediate and 8 late VAS. In the early VAS subgroup, amnion infusion prior to VAS was significantly less often necessary (7%), shunt complications were significantly less common (29%) and immediate kidney replacement therapy postnatally became less often necessary (0%). In contrast, preterm delivery ≤ 32 + 0 weeks was more common (30%) and survival rate was lower (70%) after early VAS compared to intermediate or late VAS. Overall, 90% of liveborn babies had sufficient kidney function without need for kidney replacement therapy until last follow-up, and 95% had sufficient pulmonary function without need for mechanical respiratory support. 18% of babies with complex megacystis suffered from additional health restrictions due to their major concomitant malformations.
Our data suggest that VAS is feasible from the first trimester onward. Early intervention has the potential to preserve neonatal kidney function in the majority of cases and enables neonatal survival in up to 87% of cases. Despite successful fetal intervention, parents should be aware of the potential of mid- or long-term kidney failure and of additional health impairments due to concomitant extra-renal anomalies that cannot be excluded at time of intervention.
Retrospective analysis of 46 fetuses with megacystis that underwent VAS either up to 14 + 0 weeks (early VAS), between 14 + 1 and 17 + 0 weeks (intermediate VAS) or after 17 + 0 weeks of gestation (late VAS) in a single tertiary referral center. Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational age at first VAS.
46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacystis with either aneuploidy (n = 1), anorectal malformations (n = 6), cloacal malformations (n = 3), congenital anomalies overlapping with VACTER association (n = 6) or Megacystis-Microcolon Intestinal-Hypoperistalsis Syndrome (MMIHS) (n = 2). The sonographic \'keyhole sign\' significantly predicted isolated megacystis (p < 0.001). 7 pregnancies were terminated, 4 babies died in the neonatal period, 1 baby died at the age of 2.5 months and 34 (74%) infants survived until last follow-up. After exclusion of the terminated pregnancies, intention-to-treat survival rate was 87%. Mean follow-up period was 24 months (range 1-72). The underlying pathology was highly variable and included posterior urethral valve (46%), hypoplastic or atretic urethra (35%), MMIHS or prune belly syndrome (10%) and primary vesico-ureteral reflux (2%). In 7% no pathology could be detected postnatally. No sonographic marker was identified to predict the underlying pathology prenatally. 14 fetuses underwent early, 24 intermediate and 8 late VAS. In the early VAS subgroup, amnion infusion prior to VAS was significantly less often necessary (7%), shunt complications were significantly less common (29%) and immediate kidney replacement therapy postnatally became less often necessary (0%). In contrast, preterm delivery ≤ 32 + 0 weeks was more common (30%) and survival rate was lower (70%) after early VAS compared to intermediate or late VAS. Overall, 90% of liveborn babies had sufficient kidney function without need for kidney replacement therapy until last follow-up, and 95% had sufficient pulmonary function without need for mechanical respiratory support. 18% of babies with complex megacystis suffered from additional health restrictions due to their major concomitant malformations.
Our data suggest that VAS is feasible from the first trimester onward. Early intervention has the potential to preserve neonatal kidney function in the majority of cases and enables neonatal survival in up to 87% of cases. Despite successful fetal intervention, parents should be aware of the potential of mid- or long-term kidney failure and of additional health impairments due to concomitant extra-renal anomalies that cannot be excluded at time of intervention.
摘要：
目的：评估潜在病理的范围，在单中心接受Somatex®分流术的宫腔内羊膜腔内分流术(VAS)的46例巨细胞胎儿的宫腔内病程和产后结局.
方法：回顾性分析了46例接受VAS（早期VAS）的巨大胎儿，在单个三级转诊中心的妊娠14+1至17+0周（中期VAS）或妊娠17+0周后（晚期VAS）。宫内进程，在首次VAS时,我们评估了基础病理和产后结局,并将其与基础病理和胎龄相关联.
结果：46例胎儿接受了VAS，41（89％）为男性，5（11％）为女性。28个（61％）的胎儿已分离，18个（39％）的胎儿具有非整倍性（n=1），肛门直肠畸形（n=6），泄殖腔畸形（n=3），先天性异常与VACTER关联(n=6)或巨结肠-微结肠肠蠕动综合征(MMIHS)重叠(n=2)。声像图“锁孔征”显着预测了孤立的巨细胞（p<0.001）。7次怀孕被终止，4个婴儿在新生儿期死亡，1名婴儿在2.5个月大时死亡，34名（74％）婴儿存活到最后一次随访。排除终止妊娠后，意向治疗生存率为87%.平均随访期为24个月（范围1-72）。潜在的病理是高度可变的，包括后尿道瓣膜（46％），尿道发育不良或闭锁（35％），MMIHS或修剪腹部综合征（10％）和原发性膀胱输尿管反流（2％）。在7％中，产后未检测到病理。没有确定超声标记来预测产前潜在的病理。早期接受了14个胎儿，24个中间和8个晚期VAS。在早期的VAS分组中，在VAS之前进行羊膜输注的必要性明显较低（7％），分流并发症明显不常见(29%),出生后立即进行肾脏替代治疗的必要性降低(0%).相比之下,与中期或晚期VAS相比,早期VAS后早产≤32+0周更为常见(30%),生存率较低(70%).总的来说,90％的活出生婴儿有足够的肾功能，无需肾脏替代疗法，直到最后一次随访。95%有足够的肺功能，不需要机械呼吸支持。18％的患有复杂的巨大乳房的婴儿由于其主要的伴随畸形而受到额外的健康限制。
结论：我们的数据表明，从妊娠早期开始，VAS是可行的。在大多数情况下，早期干预有可能保护新生儿的肾功能，并使新生儿在高达87％的病例中存活。尽管成功地进行了胎儿干预,父母应意识到中期或长期肾衰竭的可能性,以及因合并肾外异常而导致的额外健康损害,这些异常在干预时无法排除.
方法：回顾性分析了46例接受VAS（早期VAS）的巨大胎儿，在单个三级转诊中心的妊娠14+1至17+0周（中期VAS）或妊娠17+0周后（晚期VAS）。宫内进程，在首次VAS时,我们评估了基础病理和产后结局,并将其与基础病理和胎龄相关联.
结果：46例胎儿接受了VAS，41（89％）为男性，5（11％）为女性。28个（61％）的胎儿已分离，18个（39％）的胎儿具有非整倍性（n=1），肛门直肠畸形（n=6），泄殖腔畸形（n=3），先天性异常与VACTER关联(n=6)或巨结肠-微结肠肠蠕动综合征(MMIHS)重叠(n=2)。声像图“锁孔征”显着预测了孤立的巨细胞（p<0.001）。7次怀孕被终止，4个婴儿在新生儿期死亡，1名婴儿在2.5个月大时死亡，34名（74％）婴儿存活到最后一次随访。排除终止妊娠后，意向治疗生存率为87%.平均随访期为24个月（范围1-72）。潜在的病理是高度可变的，包括后尿道瓣膜（46％），尿道发育不良或闭锁（35％），MMIHS或修剪腹部综合征（10％）和原发性膀胱输尿管反流（2％）。在7％中，产后未检测到病理。没有确定超声标记来预测产前潜在的病理。早期接受了14个胎儿，24个中间和8个晚期VAS。在早期的VAS分组中，在VAS之前进行羊膜输注的必要性明显较低（7％），分流并发症明显不常见(29%),出生后立即进行肾脏替代治疗的必要性降低(0%).相比之下,与中期或晚期VAS相比,早期VAS后早产≤32+0周更为常见(30%),生存率较低(70%).总的来说,90％的活出生婴儿有足够的肾功能，无需肾脏替代疗法，直到最后一次随访。95%有足够的肺功能，不需要机械呼吸支持。18％的患有复杂的巨大乳房的婴儿由于其主要的伴随畸形而受到额外的健康限制。
结论：我们的数据表明，从妊娠早期开始，VAS是可行的。在大多数情况下，早期干预有可能保护新生儿的肾功能，并使新生儿在高达87％的病例中存活。尽管成功地进行了胎儿干预,父母应意识到中期或长期肾衰竭的可能性,以及因合并肾外异常而导致的额外健康损害,这些异常在干预时无法排除.
