• 作者：Marta Rodr&#237 ; guez de Alba^a ; ¹ ; ^{mrodrigueza@fjd.es} ; Ana Bustamante-Aragoné ; s^a ; ¹ ; Sara Perlado^a ; Mar&#237 ; a José ; Trujillo-Tiebas^a ; Joaqu&#237 ; n D&#237 ; az-Recasens^b ; Javier Plaza-Arranz^b ; Carmen Ramos^a
• 关键词：Diagnó ; stico prenatal no invasivo ; Enfermedades mendelianas ; Aneuploidí ; as fetales ; Nuevas tecnologí ; as
• 刊名：Diagn贸stico Prenatal
• 出版年：2012
• 期刊代码：pca115_21734127
• 类别：med
• 出版时间：April-June, 2012
• 卷：23
• 期：2
• 页码：67-75
• 文件大小：627 K

Since the presence of foetal DNA in maternal peripheral blood was demonstrated in 1997, several research groups have developed their activity in this field in order to promote non-invasive prenatal diagnosis into clinical routine.

By demonstrating the presence of foetal DNA in the maternal bloodstream, the non-invasive assessment of the sex of the foetus was achieved. This test, together with the foetal RhD determination, has been the only ones incorporated into clinical routine.

Although there are research groups working on the diagnosis of Mendelian diseases, efforts have focused on the diagnosis of foetal aneuploidies. At first, the diagnostic scope was limited by the higher presence of maternal DNA co-existing with the foetal DNA. However, recent advances in more sensitive technologies is enabling dramatic progress to be made in this field.