TY - JOUR
T1 - A call for public funding of invasive and non-invasive prenatal testing
AU - Maya, Idit
AU - Sukenik-Halevy, Rivka
AU - Basel-Salmon, Lina
AU - Sagi-Dain, Lena
N1 - Publisher Copyright:
© 2023 Walter de Gruyter GmbH, Berlin/Boston.
PY - 2023/10/1
Y1 - 2023/10/1
N2 - For decades, prenatal screening and genetic testing strategies were limited, requiring less complex decisions. Recently, however, several new advanced technologies were introduced, including chromosomal microarray analysis (CMA) and non-invasive prenatal screening (NIPS), bringing about the need to choose the most appropriate testing for each pregnancy. A worrisome issue is that opposed to the wide implementation and debates over public funding of NIPS, currently invasive testing is still recommended only in selected pregnancies with increased risk for chromosomal aberrations (according to screening tests or sonographic anomalies). This current decision-making regarding public funding for invasive and screening testing might compromise informed consent and patient's autonomy. In this manuscript, we compare several characteristics of CMA vs. NIPS, namely: the accuracy and the diagnostic scope, the risks for miscarriage and for clinically uncertain findings, the timing for testing, and pretest counselling. We argue that it must be recognized that one size might not fit all, and suggest that both options should be presented to all couples through early genetic counseling, with public funding for the specific selected test.
AB - For decades, prenatal screening and genetic testing strategies were limited, requiring less complex decisions. Recently, however, several new advanced technologies were introduced, including chromosomal microarray analysis (CMA) and non-invasive prenatal screening (NIPS), bringing about the need to choose the most appropriate testing for each pregnancy. A worrisome issue is that opposed to the wide implementation and debates over public funding of NIPS, currently invasive testing is still recommended only in selected pregnancies with increased risk for chromosomal aberrations (according to screening tests or sonographic anomalies). This current decision-making regarding public funding for invasive and screening testing might compromise informed consent and patient's autonomy. In this manuscript, we compare several characteristics of CMA vs. NIPS, namely: the accuracy and the diagnostic scope, the risks for miscarriage and for clinically uncertain findings, the timing for testing, and pretest counselling. We argue that it must be recognized that one size might not fit all, and suggest that both options should be presented to all couples through early genetic counseling, with public funding for the specific selected test.
KW - chromosomal microarray analysis
KW - non-invasive prenatal screening
KW - prenatal diagnosis
KW - prenatal screening
UR - http://www.scopus.com/inward/record.url?scp=85169879139&partnerID=8YFLogxK
U2 - 10.1515/jpm-2023-0014
DO - 10.1515/jpm-2023-0014
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C2 - 37207994
AN - SCOPUS:85169879139
SN - 0300-5577
VL - 51
SP - 992
EP - 996
JO - Journal of Perinatal Medicine
JF - Journal of Perinatal Medicine
IS - 8
ER -