Giulia Sabbatinelli
@unich.it
CAST - Center for Advanced Studies and Technology, University of Chieti
University of Chieti
RESEARCH INTERESTS
Medical Genetics
Scopus Publications
Scopus Publications
Giulia Sabbatinelli, Donatella Fantasia, Chiara Palka, Elisena Morizio, Melissa Alfonsi, and Giuseppe Calabrese
MDPI AG
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.
Francesca Ulbar, Ida Villanova, Raffaella Giancola, Stefano Baldoni, Francesco Guardalupi, Bianca Fabi, Paola Olioso, Anita Capone, Rosaria Sola, Sara Ciardelli,et al.
Elsevier BV
Chiara Palka, Paolo Guanciali-Franchi, Elisena Morizio, Melissa Alfonsi, Marco Papponetti, Giulia Sabbatinelli, Giandomenico Palka, Giuseppe Calabrese, and Peter Benn
Elsevier BV
Paolo Guanciali Franchi, Chiara Palka, Elisena Morizio, Giulia Sabbatinelli, Melissa Alfonsi, Donatella Fantasia, Giammaria Sitar, Peter Benn, and Giuseppe Calabrese
Public Library of Science (PLoS)
From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD). The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated), 1:31 to 1:899 (second trimester screening indicated) and ≤1:900 (no further action), and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results. For fetal Down syndrome, the overall detection rate was 96.8% for a false-positive rate of 2.8% resulting in an odds of being affected given a positive result (OAPR) of 1:11, equivalent to a positive predictive value (PPV) of 8.1%. Additional chromosome abnormalities were also identified resulting in an OAPR for any chromosome abnormality of 1:6.6 (PPV 11.9%). For a sub-set of cases with positive contingent test results, FISH analysis of circulating fetal cells in maternal circulation identified 7 abnormal and 39 as normal cases with 100% specificity and 100% sensitivity. We conclude that contingent screening using conventional Combined and second trimester screening tests is effective but can potentially be considerably enhanced through the addition of fetal cell analysis.
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, and Gianmaria Sitar
Wiley
A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low‐cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual‐probe FISH protocol to fetal cells isolated and enriched from maternal blood.