Vergani P, Locatelli A, Strobelt N, Cavallone M, Ceruti P, Paterlini G, Ghidini A
Department of Obstetrics and Gynecology, San Gerardo Hospital, Monza, Italy.
Am J Obstet Gynecol. 1998 Feb;178(2):218-22. doi: 10.1016/s0002-9378(98)80003-3.
Our purpose was to evaluate the outcome of fetuses with mild cerebral ventriculomegaly.
We prospectively collected all cases of mild cerebral ventriculomegaly (transverse diameter of the atrium of the cerebral lateral ventricles between 10 and 15 mm) diagnosed antenatally between January 1990 and December 1996. Associated ultrasonographic abnormalities including markers of aneuploidy, presence of chromosomal anomalies, structural malformations detected at birth, and neurologic outcome were recorded. Outcome information was available on all cases. In addition, published series of cases of fetal mild cerebral ventriculomegaly were reviewed to identify prognostic indicators.
Eighty-two cases fulfilled the inclusion criteria: 48 were isolated and 34 were associated with other ultrasonographic markers or anomalies. Among the 45 surviving euploid isolated cases, neurologic follow-up was normal at a mean age of 28 months (range 3 to 72 months). Male fetuses and those with a transverse atrial size <12 mm had a good prognosis. Ventricular atria > or =12 mm were more often associated with other anomalies (56% vs 6%) and, when isolated, with abnormal postnatal neurodevelopment (23% vs 3%). Aneuploidy was present in two cases of isolated mild cerebral ventriculomegaly, both of which were associated with advanced maternal age, and in seven cases associated with other anomalies.
Mild cerebral ventriculomegaly should prompt targeted ultrasonographic examination, inclusive of markers of aneuploidies, visualization of the corpus callosum, and echocardiogram as well as serologic evaluation for congenital infections. In isolated mild cerebral ventriculomegaly genetic counseling should take into account clinical, laboratory, and ultrasonographic findings. A review of the published series suggests that cognitive or motor delay is predominantly mild and that it occurs in about 9% of cases of isolated mild cerebral ventriculomegaly.
我们的目的是评估轻度脑室扩大胎儿的预后情况。
我们前瞻性收集了1990年1月至1996年12月期间产前诊断为轻度脑室扩大（侧脑室房部横径在10至15毫米之间）的所有病例。记录相关的超声异常情况，包括非整倍体标志物、染色体异常的存在情况、出生时检测到的结构畸形以及神经学预后。所有病例均有预后信息。此外，回顾已发表的胎儿轻度脑室扩大病例系列，以确定预后指标。
82例符合纳入标准：48例为孤立性，34例与其他超声标志物或异常情况相关。在45例存活的整倍体孤立性病例中，平均年龄28个月（范围3至72个月）时神经学随访正常。男性胎儿以及房部横径<12毫米的胎儿预后良好。脑室房部≥12毫米更常与其他异常情况相关（56%对6%），孤立存在时与出生后神经发育异常相关（23%对3%）。2例孤立性轻度脑室扩大病例存在非整倍体，均与母亲高龄相关，7例与其他异常情况相关。
轻度脑室扩大应促使进行针对性的超声检查，包括非整倍体标志物检查、胼胝体可视化、超声心动图以及先天性感染的血清学评估。对于孤立性轻度脑室扩大，遗传咨询应考虑临床、实验室和超声检查结果。对已发表病例系列的回顾表明，认知或运动延迟主要为轻度，约9%的孤立性轻度脑室扩大病例会出现这种情况。
