Monni Giovanni, Iuculano Ambra, Zoppi Maria Angelica
Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Microcitemico, via Jenner, 09121 Cagliari, Italy.
J Clin Med. 2014 Jul 29;3(3):865-82. doi: 10.3390/jcm3030865.
Prenatal screening and testing for trisomy 21 in twin pregnancies poses a number of challenges: the exact estimate of the a priori risk of trisomy 21, the choice of prenatal screening test and/or invasive techniques to employ for the diagnosis and the impact of the result on the options of treatment in case of discordant results within a twin pair or among multiples. These different aspects are discussed below while recognizing that many issues remain unresolved.
双胎妊娠中21三体综合征的产前筛查和检测存在诸多挑战:21三体综合征先验风险的准确估计、用于诊断的产前筛查试验和/或侵入性技术的选择,以及在双胎或多胎中结果不一致时结果对治疗选择的影响。以下将讨论这些不同方面,同时认识到许多问题仍未得到解决。