Carbone Luigi, Cariati Federica, Sarno Laura, Conforti Alessandro, Bagnulo Francesca, Strina Ida, Pastore Lucio, Maruotti Giuseppe Maria, Alviggi Carlo
Dipartimento di Neuroscienze, Scienze Riproduttive ed Odontostomatologiche, Università di Napoli Federico II, 80131 Naples, Italy.
CEINGE-Biotecnologie Avanzate s.c.a.r.l., 80145 Naples, Italy.
Genes (Basel). 2020 Dec 24;12(1):15. doi: 10.3390/genes12010015.
Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.
胎儿非整倍体是流产、围产期死亡和神经发育障碍的最常见原因之一。在过去70年里，人们为改善这些疾病的产前诊断和产前筛查付出了诸多努力。最近，游离胎儿DNA（cff-DNA）检测在不同国家越来越多地被使用，为孕妇进行非侵入性产前筛查提供了契机。本叙述性综述的目的是描述胎儿非整倍体产前筛查这项检测的现状以及主要优势和局限性。
