• Shilin Zhong, Yuqing Deng, Liping Xue, and Ru Li.
• Department of Obstetrics and Gynecology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
• J Coll Physicians Surg Pak. 2022 Dec 1; 32 (12): SS215SS218SS215-SS218.

AbstractJacobsen syndrome (JBS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11. Only a few prenatal cases of JBS have been reported, and data on prenatal ultrasonographic findings are relatively scarce. We analysed four cases of JBS diagnosed prenatally in our centre. All four cases received ultrasound examination in the second trimester. Cardiac defects and intrauterine growth retardation (IUGR) were present in three cases. Ventriculomegaly, shortened femur length and pyelectasis were found in two cases. According to the literature, IUGR, pyelectasis and ventriculomegaly are common prenatal phenotypes of JBS. In addition, cardiac defects, trigonocephaly and shortened femur are also found. Our presentation of these cases provides more ultrasonic information for the prenatal diagnosis of this rare disease. Key Words: Ultrasound, Prenatal diagnosis, Jacobsen syndrome, Chromosomal abnormalities, Fetal malformation.

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