目的

总结先天性囊性神经母细胞瘤的产前及出生后超声声像图特征，提高其产前超声诊断准确性。

方法

回顾性分析2016 年6 月至2021 年12 月在湖北省妇幼保健院产前超声检查发现并经病理证实的5 例囊性神经母细胞瘤病例的产前及出生后的超声声像图特征。

结果

5 例胎儿均为单胎（男性3 例，女性2 例），产前超声于孕30⁺⁶ ～37⁺² 周发现声像图异常。病灶位于左侧肾上腺3 例、位于右侧肾上腺2 例。产前超声明确诊断1 例，未明确诊断3 例，误诊为右侧肾上腺囊肿1 例。出生后复查超声均显示肿物体积增大（产前首次发现肿物最大径为12 ～42 mm，出生后复查肿物最大径为27 ～63 mm）、囊壁厚度增加（产前囊壁最大厚度为1.0 ～4.6 mm，其中2 例囊壁厚度不均；出生后囊壁最大厚度为2.2 ～5.0 mm，其中5 例囊壁厚度不均）、囊腔内回声改变（产前2 例囊腔内透声欠佳、3 例囊腔内透声好；出生后5 例囊腔内透声差、均出现点、絮状高回声）、分隔增多（产前3 例可见分隔回声，出生后5 例均可见分隔回声）、钙化增多（产前未见钙化回声，出生后3 例可见钙化回声）、囊壁血流增多（产前1 例可见少许囊壁血流，出生后4 例可见囊壁血流）。5 例患儿均在新生儿期行手术切除囊性肿物，术后病理提示为神经母细胞瘤，未分化型，低核分裂核碎裂指数，均未行化疗。随访6 ～36 个月，无复发。

结论

囊性神经母细胞瘤好发于肾上腺，在胎儿期产前超声检查时亦可发现。超声能够及时观察并提供高效的产前咨询，为临床早期诊断及治疗提供重要依据。

Objective

To summarize the prenatal and postnatal sonographic features of congenital cystic neuroblastoma in order to improve the accuracy of prenatal ultrasound diagnosis.

Methods

A retrospective analysis was conducted on five cases of cystic neuroblastoma confirmed by pathology, which were detected by prenatal ultrasound at Maternal and Child Health Hospital of Hubei Province from June 2016 to December 2021.

Results

All the five cases were singleton pregnancies (three males and two females), with gestational weeks at the time of prenatal ultrasound detection ranging from 30⁺⁶ to 37⁺² weeks.The lesions were located in the left adrenal gland in three cases and the right adrenal gland in two.Prenatal ultrasound made a definitive diagnosis in one case, failed to make a clear diagnosis in three, and misdiagnosed one case as a right adrenal cyst.Postnatal ultrasound follow-up revealed the following characteristic changes: tumor enlargement (maximum diameter increased from 12-42 mm prenatally to 27-63 mm postnatally); increased thickness of the cyst wall (maximum thickness increased from 1.0-4.6 mm prenatally to 2.2-5.0 mm postnatally,with the number of cases with uneven thickness increasing from two to five); changes in cyst cavity echoes (echo penetration deteriorated from two cases to five cases, with all showing punctate and flocculent echoes); increased number of septa (from three cases to five cases); increased calcification (no calcification echoes prenatally, but calcification echoes appeared in three cases postnatally); and increased cyst wall blood flow (blood flow in the cyst wall was visible in one case prenatally, but in four postnatally).All the five patients underwent surgical resection of the cystic mass in the neonatal period without chemotherapy, and postoperative pathology indicated undifferentiated neuroblastoma with low mitotic and karyorrhexis indices.Follow-up after surgery for 6-36 months showed no recurrence.

Conclusion

Cystic neuroblastoma is prone to occur in the adrenal glands and can be detected early by prenatal ultrasound.Ultrasound can provide timely observation and efficient prenatal consultation, and provide an important basis for early clinical diagnosis and treatment.