scholarly journals ‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications

2019 ◽  
Vol 45 (4) ◽  
pp. 231-238 ◽  
Author(s):  
Hilary Bowman-Smart ◽  
Julian Savulescu ◽  
Cara Mand ◽  
Christopher Gyngell ◽  
Mark D Pertile ◽  
...  

Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21 (Down syndrome). However, NIPT may be expanded to many different future applications. There are a potential host of ethical concerns around the expanding use of NIPT, as examined by the recent Nuffield Council report on the topic. It is important to examine what NIPT might be used for before these possibilities become consumer reality. There is limited research exploring views of women on possible future uses of NIPT, particularly those of women who have undergone NIPT. In this study, we examined the views of women who undertook NIPT previously on the acceptability of and interest levels in using NIPT for a number of current and possible future applications. These included several medical conditions encompassing psychiatric, neurodevelopmental and adult-onset conditions as well as non-medical traits such as intelligence. One thousand women were invited to participate and 235 eligible surveys were received. Women generally reported an interest in using NIPT for medical conditions that severely impacted quality of life and with an onset earlier in life and stressed the importance of the accuracy of the test. Concerns were raised about the use of NIPT for non-medical traits. Respondents indicated that termination of pregnancy was not their only reason for testing, particularly in the case of sex. These results can further inform the ethical debate around the increasing integration of NIPT into healthcare systems.

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 15
Author(s):  
Luigi Carbone ◽  
Federica Cariati ◽  
Laura Sarno ◽  
Alessandro Conforti ◽  
Francesca Bagnulo ◽  
...  

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.


Author(s):  
Mishu Mangla

No field in obstetrics has seen such fast advancement, as the field of prenatal screening and diagnosis. A wide variety of tests are available today, and this at times becomes confusing both for the patient and the treating doctor that which screening test would be best suited in the given circumstances. Non-invasive prenatal screening, with its numerous advantages is rapidly becoming the test of first choice, especially in the affording set of population.  Although, the test has a very high sensitivity and a very good positive predictive value, this too suffers from some disadvantages which should be clear to the obstetrician ordering the test. A good knowledge about the test, the ideal target population in which this should be offered as the primary screening tool and limitations of the test should be known to all practicing obstetricians and primary health care providers. The current review aims to provide a simplified and updated knowledge regarding non-invasive prenatal testing (NIPT), its major advantages and disadvantages and summarizes the role of ultrasound in patients with negative NIPT.


2019 ◽  
Vol 8 (4) ◽  
pp. 402-407
Author(s):  
Zeynep Guldem Okem ◽  
Gokcen Orgul ◽  
Berna Tari Kasnakoglu ◽  
Mehmet Cakar ◽  
Mehmet Sinan Beksac

2017 ◽  
Vol 45 (8) ◽  
Author(s):  
Frank A. Chervenak ◽  
Laurence B. McCullough ◽  
Joachim Dudenhausen

AbstractThere is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of “prenatal testing” and “prenatal screening” – along with their subsets of “ultrasound testing,” “ultrasound screening,” “non-invasive prenatal testing,” “non-invasive prenatal screening,” and “prenatal diagnosis” – has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: “fetal analysis with invasive method” (FA-I) and “fetal analysis with non-invasive method,” (FANI) using various techniques. This new nomenclature is designed to be precise and therefore facilitate effective communication among physicians and with pregnant women. For ease of use the new nomenclature can be formulated as an abbreviation: FA-I and FA-NI.


2019 ◽  
Vol 46 (11) ◽  
pp. 781-782
Author(s):  
Dagmar Schmitz

Bunnik and colleagues argued that financial barriers do not promote informed decision-making prior to prenatal screening and raise justice concerns. If public funding is provided, however, it would seem to be important to clarify its intentions and avoid any unwarranted appearance of a medical utility of the testing.


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