The new generation of non-invasive prenatal screening
First trimester screening detects common chromosomal • neoBona Advanced+:
abnormalities in the fetus during pregnancy. This type of Trisomies 21, 18 and 13 + Fetal sex + Sex screening primarily focuses on the detection of Down chromosome aneuploidy (X and Y) Syndrome (T21) and Edwards Syndrome (T18), with a Trisomies 16 and 9 + Microdeletions panel: sensitivity of 85-90% and a false positive rate of 5%. DiGeorge, Angelman, Prader-Willi, deletion 1p36, Technological improvement in DNA analysis has led to Wolf-Hirschhorn and Cri-du-chat syndromes the development of non-invasive prenatal tests (NIPT) Conventional single-read NGS technology based on the study of the cell-free fetal DNA in maternal Without fetal fraction blood, enabling a more accurate screening of chromosomal conditions with greater sensitivity and Scientific background of neoBona specificity, and no risk for the mother or the fetus. The innovative paired-end sequencing technology of neoBona allows the accurate quantification of the fetal fraction and the distinction of maternal and fetal DNA neoBona is the new according to the fragment sizes. generation of non-invasive neoBona employs a novel computing algorithm called prenatal test resulting from the the TScore (Trisomy Score) which integrates the combined expertise of chromosome counts determined by DNA sequencing, LABCO, one of the European the fetal fraction, the fragment size distribution and leaders in prenatal diagnosis, the depth of sequencing, to provide a reliable result and ILLUMINA, a world leader even at a low fetal fraction. in next-generation DNA sequencing and analysis. neoBona detects aneuploidies and fetal sex, with the LABCO was a pioneer in the introduction of non-invasive confidence of working with a European leader in prenatal prenatal tests in Europe, and with neoBona LABCO diagnosis. incorporates the latest sequencing technology into NIPT Advantages: (paired-end reads), which enables deeper and more comprehensive analysis of the cell-free DNA. Latest-generation sequencing technology with paired- end reads neoBona also determines the fetal fraction (percentage Innovative TScore for greater accuracy at low fetal of cell-free DNA originating from the placenta, in the total fraction amount of cell-free DNA in the mother's blood), to ensure Determination of the fetal fraction the highest accuracy of the analysis. Expertise of one of the European leaders in prenatal diagnosis Chromosomal alterations detected Largest European network of blood sampling centres neoBona analyses a blood sample from the mother to Rapid confirmation test for common aneuploidies determine the risk of chromosomal abnormalities in the included in the cost, if required fetus during pregnancy. There are three options available Expert consultants available for the doctors in order to adapt the prenatal screening to each patient. Options available for singleton and twin pregnancies: Indications • neoBona: Pregnant women with at least 10 weeks gestational age (≥ 10+0/7), in the following situations: Trisomies 21, 18 and 13 + Fetal sex (optional) • Single or twin (two fetuses) pregnancy Paired-end NGS technology • IVF pregnancies Fetal fraction • Egg donation In case of twin pregnancies, if the "Fetal sex" option is • Vanishing twin selected the presence of chromosome Y is determined. neoBona is a genetic screening test and as such, must If it is detected, at least one of the fetuses is male. be prescribed by a specialist after appropriate Options available for singleton pregnancies: counselling. • neoBona Advanced: Requirements Trisomies 21, 18 and 13 + Fetal sex + Sex Sample: Dedicated kit provided by the laboratory. Store chromosome aneuploidy (X and Y) and send at room temperature. Paired-end NGS technology Documentation: Dedicated test requisition and informed Fetal fraction consent form. 18/03/2016
Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era- results from the Victorian Perinatal Record Linkage study. American Journal of Obstet