Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2023, Vol. 19 ›› Issue (02): 145 -150. doi: 10.3877/cma.j.issn.1673-5250.2023.02.004

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Clinical cognition of superfemale syndrome

Zhaomin Zeng, Haiyan Yu()   

  1. Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2022-11-30 Revised:2023-03-07 Published:2023-04-01
  • Corresponding author: Haiyan Yu
  • Supported by:
    Natural Science Foundation of Sichuan Province(2022NSFSC0659)

Superfemale syndrome is a trisomy syndrome of sex chromosome aneuploidy (SCA). The karyotype of most patients with superfemale syndrome is 47, XXX, and their clinical phenotypes vary greatly. With the enhancement of people′s awareness of health care during pregnancy, and development and popularization of prenatal diagnostic techniques, prenatal detection rate of fetuses with superfemale syndrome has increased. When prenatal diagnosis finds that fetus is complicated with superfemale syndrome, experts in multidisciplinary team(MDT) are required to evaluate fetal prognosis and provide detailed and unbiased clinical consultation for pregnant couples. After birth, fetuses with superfemale syndrome still need MDT to conduct necessary rehabilitation training and clinical intervention as soon as possible. In this paper, latest research progresses on genetic background, clinical phenotype and diagnosis, pregnancy selection, perinatal outcome, and risk of recurrence of offspring with superfemale syndrome or not are described in order to provide reference to pregnant couples of clinical consultation.

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