Authors' objectives: Prenatal screening for aneuploidy using free fetal DNA in maternal blood, in pregnancies at high risk, could avoid invasive diagnostic testing such as amniocentesis or chorionic villus sampling, reducing the discomfort and the anxiety they generate, and the possible birth complications caused by instrumentation and even the risk of fetal loss. The specific objectives of this review focused on evaluating the efficiency, effectiveness and safety of prenatal diagnosis for aneuploidy using free fetal DNA in maternal blood.

Authors' recommendations: 3 documents were retrieved for their analysis, 2 diagnostic tests studies and 1 case-control study. The diagnostic tests studies verified the validity of massively parallel shotgun sequencing like the identification and quantification DNA method, with sensitivity between 79,1% and 100% and specificity between 97,9% and 99,7%. These tests showed greater ability to rule out the infection than to detect it. Similar values were obtained estimating the diagnostic efficacy (ROC curves were 1,0 and 0,98) from the two sequencing protocols used (2-plex and 8-plex). They only presented differences in the z-score, significantly higher in 2-plex protocol (p<0,001) and in the higher identification of percentage chromosome 21 in 8-plex sequencing (p<0,001). There was a strong negative association between maternal weight and percentage fetal DNA and also between maternal weight and z-score values, an strong positive association between z-score and percentage fetal DNA only in cases and just a little positive association between gestational age and z-score values. The rest of the variables associations were insignificant. There was not economic evaluation study found but one of the selected studies calculated the prenatal screening costs in high risk pregnancies, including the MPSS in the process before the amniocentesis or the chorionic villus samplimg and showed an important reduction of fetal loss caused by the invasive techniques and a possible great economic saving.

Project Status: Completed

URL for project: https://www.aetsa.org/publicacion/deteccion-de-adn-fetal-libre-en-sangre-materna-para-diagnostico-prenatal-de-aneuploidias-revision-sistematica/

Year Published: 2011

URL for published report: https://www.aetsa.org/download/publicaciones/antiguas/AETSA_2011_2_7_Diagnostico_aneuploidias.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Spain

Organisation Name: Andalusian Health Technology Assessment Area

Contact Address: Area de Evaluacion de Tecnologias Sanitarias Sanitarias de Andalucia (AETSA) Avda. Innovación, s/n Edificio Arena 1. Sevilla (Spain) Tel. +34 955 006 309

Contact Name: aetsa.csalud@juntadeandalucia.es

Contact Email: aetsa.csalud@juntadeandalucia.es

Copyright: Andalusian Agency for Health Technology Assessment (AETSA)