Fetal Neurology Clinic, Edith Wolfson Medical Center, Holon, Israel.
Ultrasound Obstet Gynecol. 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799.
To compare the outcomes of fetuses with apparently isolated macrocephaly and those with associated findings, and to compare prenatal findings with postnatal diagnoses in children with syndromic macrocephaly.
We reviewed the files of all patients referred for suspected fetal macrocephaly, during a 10-year period from 2000, to a large prenatal diagnosis unit with expertise in fetal neurology counseling. Macrocephaly was defined as head circumference (HC) > 2 SDs of the norm. Patients with confirmed HC > 2 SD were identified and contacted, and their development was evaluated.
Adequate data for analysis were available for 98 patients, in 82 of whom the fetal macrocephaly was considered isolated (Group A), and in 16 of whom associated fetal anomalies were identified (Group B). Macrocephaly was diagnosed earlier in Group B patients (28.4 vs. 32.3 weeks, P = 0.069), and the HC in Group B patients was larger (Z-score 2.95 vs. 2.3, P < 0.001). From Group A there were 81 liveborn; one of whom was diagnosed as having infantile autism. From Group B, there were nine liveborn. The associated central nervous system findings, as demonstrated by ultrasound and magnetic resonance imaging, included mild ventriculomegaly, malformations of cortical development, callosal abnormalities, overdeveloped sulcation, large cavum septi pellucidi, large subarachnoid spaces, mega cisterna magna, periventricular pseudocyst, open operculum and vermian dysgenesis. Syndromic diagnosis was made in utero in five fetuses and after birth in three. In eight patients, associated malformations were confirmed after birth but a specific diagnosis was not reached.
When fetal macrocephaly is associated with other brain or systemic anomalies, syndromic macrocephaly can be diagnosed in utero. Fetuses with syndromic macrocephaly have a significantly larger HC, usually > 2.5 SD above the mean. Isolated macrocephaly, particularly when the HC is < 2.5 SD above the norm, may be clinically benign.
比较单纯性大头畸形胎儿与合并其他发现胎儿的结局，并比较综合征性大头畸形患儿的产前发现与产后诊断。
我们回顾了 2000 年至 2010 年期间，在一家大型产前诊断单位的所有疑似胎儿大头畸形患者的档案，该单位在胎儿神经学咨询方面具有专业知识。大头畸形的定义为头围（HC）大于正常值的 2 个标准差（SD）。确定并联系了头围大于 2 个 SD 的患者，并对其发育情况进行了评估。
在 98 名患者中，有 82 名患者的胎儿大头畸形被认为是单纯性（A 组），16 名患者合并有胎儿异常（B 组）。B 组患者的大头畸形诊断时间更早（28.4 周与 32.3 周，P = 0.069），B 组患者的 HC 更大（Z 评分 2.95 与 2.3，P < 0.001）。A 组中有 81 名活产儿，其中 1 名被诊断为婴儿自闭症。B 组有 9 名活产儿。超声和磁共振成像显示，中枢神经系统的合并异常包括轻度脑室扩大、皮质发育畸形、胼胝体异常、脑回过度发育、透明隔腔大、蛛网膜下腔大、大枕大池、脑室旁假囊肿、开放的脑盖和蚓部发育不良。5 名胎儿在宫内被诊断为综合征性大头畸形，3 名在产后被诊断。8 名患者在产后被证实合并有其他畸形，但未明确具体诊断。
当胎儿大头畸形合并其他脑或全身异常时，可在宫内诊断为综合征性大头畸形。患有综合征性大头畸形的胎儿 HC 明显更大，通常大于平均值的 2.5 个 SD 以上。单纯性大头畸形，尤其是 HC 大于正常值的 2.5 个 SD 时，可能具有临床良性。
