Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices

New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but...

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Main Authors: Simona Zaami, Alfredo Orrico, Fabrizio Signore, Anna Franca Cavaliere, Marta Mazzi, Enrico Marinelli
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/12/2/204
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author Simona Zaami
Alfredo Orrico
Fabrizio Signore
Anna Franca Cavaliere
Marta Mazzi
Enrico Marinelli
author_facet Simona Zaami
Alfredo Orrico
Fabrizio Signore
Anna Franca Cavaliere
Marta Mazzi
Enrico Marinelli
author_sort Simona Zaami
collection DOAJ
description New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review’s authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.
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spelling doaj.art-d6aefa427ddf430d98cbb6708939a2b12023-12-03T15:22:41ZengMDPI AGGenes2073-44252021-01-0112220410.3390/genes12020204Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative ChoicesSimona Zaami0Alfredo Orrico1Fabrizio Signore2Anna Franca Cavaliere3Marta Mazzi4Enrico Marinelli5Department of Anatomical, Histological, Forensic and Orthopedic Sciences, Sapienza University of Rome, 00161 Rome, ItalyMolecular Diagnosis and Characterization of Pathogenic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, 53100 Siena, ItalyDepartment of Obstetrics and Gynaecology, S. Eugenio Hospital, 00144 Rome, ItalyDepartment of Obstetrics and Gynecology, Santo Stefano Hospital, Prato USL Toscana Centro, 59100 Prato, ItalyPhysiopathology of Reproduction Unit, USL Toscana SudEst, Ospedale della Misericordia, 58100 Grosseto, ItalyDepartment of Anatomical, Histological, Forensic and Orthopedic Sciences, Sapienza University of Rome, 00161 Rome, ItalyNew technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review’s authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.https://www.mdpi.com/2073-4425/12/2/204non-invasive prenatal testingcell-free fetal DNAscreeninganeuploidiesethical, legal and social implications
spellingShingle Simona Zaami
Alfredo Orrico
Fabrizio Signore
Anna Franca Cavaliere
Marta Mazzi
Enrico Marinelli
Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices
Genes
non-invasive prenatal testing
cell-free fetal DNA
screening
aneuploidies
ethical, legal and social implications
title Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices
title_full Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices
title_fullStr Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices
title_full_unstemmed Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices
title_short Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices
title_sort ethical legal and social issues elsi associated with non invasive prenatal testing reflections on the evolution of prenatal diagnosis and procreative choices
topic non-invasive prenatal testing
cell-free fetal DNA
screening
aneuploidies
ethical, legal and social implications
url https://www.mdpi.com/2073-4425/12/2/204
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