探讨产前超声及磁共振（MRI）检查在胎儿透明隔腔异常产前诊断中的应用价值，分析不同类型透明隔腔异常胎儿的妊娠结局。

对2018年1月至2019年12月在南方医科大学第一临床医学院深圳妇幼保健院产前超声会诊中心检查并诊断为透明隔腔异常34例胎儿的产前颅脑超声、MRI及终止妊娠胎儿标本、围生期新生儿颅脑影像学检查结果和出生后神经系统发育的随访情况进行综合分析。

产前超声与MRI检查结果：34例透明隔腔异常胎儿中产前头颅超声检查诊断全前脑7例（20.6%），孤立性透明隔腔小9例（26.5%），孤立性透明隔腔未显示3例（8.8%），透明隔腔增宽7例（20.6%），透明隔腔未显示合并胼胝体发育不全和（或）不良4例（11.8%），透明隔腔内异常回声1例（2.9%），孤立性透明隔部分缺如1例（2.9%），透明隔腔未显示合并视-隔发育不良2例（5.9%）；胎儿头颅MRI检查（70.6%，24/34）诊断孤立性透明隔腔小11例（45.8%），透明隔腔增宽5例（20.8%），透明隔腔未显示合并胼胝体发育不全与发育不良4例（16.7%），孤立性透明隔部分缺如2例（8.3%），透明隔腔未显示合并视-隔发育不良2例（8.3%）。产前超声与磁共振诊断不符合4例（3例产前超声诊断透明隔腔未显示的胎儿产前MRI诊断为1例透明隔部分缺如，2例透明隔腔小；1例产前超声诊断胼胝体部分缺如，产前MRI诊断胼胝体完全缺如，产后证实为胼胝体部分缺如）。妊娠结局：34例胎儿产前检查后孕妇选择终止妊娠15例（44.1%，15/34，全前脑7例，透明隔异常合并其他畸形8例）；活产19例（55.9%，19/34，孤立性透明隔腔小11例，透明隔腔增宽5例，透明隔腔未显示伴胼胝体发育不良1例、孤立性透明隔部分缺如2例）。随访结果：对19例1个月至28个月活产儿短期随访，均未见神经系统明显异常。

不同类型透明隔腔异常胎儿中以孤立性透明隔腔减小或增宽及孤立性透明隔部分缺如短期随访预后良好。头颅超声及MRI检查联合应用有助于产前正确诊断胎儿透明隔腔异常。

To evaluate the value of prenatal ultrasound and magnetic resonance imaging (MRI) in the diagnosis of fetal cavum septum pellucidum (CSP) abnormalities and to analyze the pregnancy outcomes.

From January 2018 to December 2019, 34 fetuses with CSP abnormalities identified by prenatal ultrasound at the Shenzhen Maternity and Child Healthcare Hospital, the First School of Clinical Medicine, Southern Medical University were collected. Fetal MRI was performed. the newborn or fetus was examined after birth or induced labor by ultrasound and MRI. Neurodevelopment was followed by postnatal ultrasound/MRI.

Prenatal ultrasound and MRI examination results showed that in the 34 cases, there were 7 cases of holoprosencephaly (20.6%), 9 cases of small CSP (26.5%), 3 cases of absent CSP (8.8%), 7 cases of widened CSP (20.6%), 4 cases of corpus callosum dysplasia (11.8%), 1 case of abnormal echo in CSP (2.9%), 1 case of isolated septum pellucidum dysplasia (2.9%), and 2 cases of septo-optic dysplasia (5.9%). There were 24 fetuses (70.6%) who underwent fetal MRI, which revealed 11 cases of small CSP (45.8%), 5 cases of widened CSP (20.8%), 4 cases of corpus callosum dysplasia (16.7%), 2 cases of isolated septum pellucidum dysplasia (8.3%), and 2 cases of septo-optic dysplasia (8.3%). In four cases, prenatal ultrasound and prenatal MRI diagnoses were inconsistent. Fifteen cases (44.1%, 15/34) underwent induced labor (7 cases of holoprosencephaly and 8 cases of abnormal CSP with other malformations). Nineteen cases (55.9%, 19/34) were born and developed well (11 cases with small CSP, 5 cases with widened CSP, 1 case with corpus callosum dysplasia, and 2 cases with isolated septum pellucidum dysplasia and normal corpus callosum). No neurological abnormalities were observed in 19 live births between 1 month and 28 months.

Isolated small or wide CSP and isolated septum pellucidum dysplasia have good clinical prognosis during short-term follow-up.