Department of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, 050051, China.
The Second People's Hospital of Liaocheng, Liaocheng, 252600, China.
BMC Pregnancy Childbirth. 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1.
Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by underdevelopment or dysplasia of the cerebellar vermis, expansion of the fourth ventricle and posterior fossa cistern. The incidence is aboutapproximately 1/25000-1/35000. At present, the etiology and pathogenesis of DWS are not completely clear. It is mostly considered to be a multifactorial genetic disease that is related to both genetic factors and environmental factors. There is no large sample size analysis of the chromosomal profile of DWS up to now. This study aims to provide clinical reference for prenatal diagnosis via summarizing the clinical features and pregnancy outcomes of Dandy-Walker syndrome.
A total of 76 cases of foetal Dandy-Walker syndrome out of 19,506 pregnant women underwent cordocentesis or amniocentesis for genetic detection. Rapid prenatal karyotyping, single nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs) were performed for prenatal genetic diagnosis. The results of ultrasonography, genetic analysis and pregnancy outcome were recorded.
Of the 76 cases, 19 were isolated DWS, while 57 cases were accompanied by other ultrasound-visible abnormalities. Ultrasound abnormalities of the CNS were most frequently observed, accompanied by DWS. Twenty-five out of 76 cases had chromosomal abnormalities, and the rate of chromosomal abnormalities increased in pregnant women of advanced maternal age or in combination with other ultrasound abnormalities. Of the 19 cases in the isolated DWS group, nine pregnant women chose to terminate the pregnancy, while seven cases continued the pregnancy and all infants were normal. Among the 57 pregnant women with pathological ultrasound manifestations other than foetal DWS, 44 chose to terminate the pregnancy, while 12 cases continued the pregnancy. Further follow-up revealed one newborn with postnatal neurodevelopmental delay. A female term neonate presented with very severe sensorineural deafness, and an infant died 7 days after birth with abnormal development of multiple organs.
Pregnant women with DWS in foetal ultrasonic examination should be offered a careful and comprehensive foetal ultrasound scan and further prenatal genetic testing including karyotype analysis and SNP-array. The prognosis of the foetus without chromosomal aberration is good in isolated DWS pregnancies but poor in nonisolated DWS pregnancies.
Dandy-Walker 综合征（DWS）是一种罕见的中枢神经系统（CNS）先天性畸形，其特征为小脑蚓部发育不全或发育不良、第四脑室和后颅窝池扩张。其发病率约为 1/25000-1/35000。目前，DWS 的病因和发病机制尚不完全清楚，大多认为是一种多因素遗传疾病，与遗传因素和环境因素均有关。目前尚无 DWS 染色体图谱的大样本量分析。本研究旨在通过总结 Dandy-Walker 综合征的临床特征和妊娠结局，为产前诊断提供临床参考。
对 19506 例孕妇进行脐带穿刺或羊膜穿刺术进行遗传检测，其中 76 例胎儿患有 Dandy-Walker 综合征。对胎儿进行快速产前核型分析、单核苷酸多态性微阵列（SNP-array）和 BACs-on-Beads™（BoBs）进行产前遗传学诊断。记录超声检查、遗传分析和妊娠结局。
76 例中，孤立性 DWS 19 例，伴其他超声可见异常 57 例。最常观察到中枢神经系统超声异常，伴 DWS。25/76 例染色体异常，高龄孕妇或伴其他超声异常者染色体异常率增加。孤立性 DWS 组 19 例中，9 例孕妇选择终止妊娠，7 例继续妊娠，所有婴儿均正常。在 57 例除胎儿 DWS 外伴有其他病理超声表现的孕妇中，44 例选择终止妊娠，12 例继续妊娠。进一步随访发现 1 例新生儿有产后神经发育迟缓。一名足月女婴出生时患有非常严重的感觉神经性耳聋，1 例婴儿出生后 7 天因多器官发育异常死亡。
在胎儿超声检查中发现 DWS 的孕妇，应进行仔细、全面的胎儿超声检查，并进一步进行包括核型分析和 SNP-array 在内的产前遗传检测。孤立性 DWS 妊娠中无染色体异常胎儿的预后良好，但非孤立性 DWS 妊娠中胎儿的预后较差。
