Sabbatinelli Giulia, Fantasia Donatella, Palka Chiara, Morizio Elisena, Alfonsi Melissa, Calabrese Giuseppe
Dipartimento di Neuroscienze, Imaging & Scienze Cliniche, Scuola Superiore G. D'Annunzio, University of Chieti, 66100 Chieti, Italy.
UOSD Genetica Oncoematologica, Dipartimento di Oncologico-Ematologico, Ospedale Spirito Santo, ASL Pescara, 65124 Pescara, Italy.
Diagnostics (Basel). 2021 Nov 30;11(12):2239. doi: 10.3390/diagnostics11122239.
Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy.
产前诊断在临床遗传学中起着至关重要的作用。利用母体外周血中循环的胎儿细胞进行非侵入性产前诊断已成为产前诊断的目标，以获取完整的胎儿遗传信息并避免对母亲和胎儿造成风险。开发高效分离技术对于从母体循环中获取稀少的胎儿细胞是必要的。多年来，已经应用了多种方法，包括选择理想的细胞靶点、不同的细胞回收技术以及优化的细胞分离产量程序。为了提供一个有用的工具，并深入了解当今可用技术的局限性和优势，我们回顾了基于孕期罕见且易失活的循环胎儿细胞创建和验证非侵入性产前诊断检测方案的遗传学研究。
