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prenatal testing

Non-invasive prenatal testing: a review of international implementation and challenges

Non-invasive prenatal testing: a review of international implementation and challenges

... As NIPT expands, it is important that it is used effectively and ethically, especially if it ultimately becomes a first tier screen. Educating patients to ensure informed decision making and reproductive autonomy will be ...

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Defending biomedical authority and regulating the womb as social space  Prenatal testing in the Polish press

Defending biomedical authority and regulating the womb as social space Prenatal testing in the Polish press

... This paper proceeds from the understanding that newspaper reportage constructs as well as reflects social reality, that it is ‘both partial and ideological’ (reference). Using a critical discourse analysis methodology, ...

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Original Article PLAC4 mRNA SNP in non-invasive prenatal testing of Down syndrome

Original Article PLAC4 mRNA SNP in non-invasive prenatal testing of Down syndrome

... Non-invasive prenatal testing (NIPT), or non- invasive prenatal testing (NIPT), is a prenatal diagnosis with none or insignificant level of invasiveness, and has substantial medical ...

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Evaluation of non invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non invasive diagnosis (RAPID) protocol

Evaluation of non invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non invasive diagnosis (RAPID) protocol

... As invasive tests carry a risk of miscarriage of around 0.5% [1], researchers have long been focused on develop- ing an alternative, highly accurate non-invasive ap- proach. The possibility of diagnosing aneuploidies ...

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Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies

Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies

... based prenatal testing is relative high, it still could not be a primary screening method for prenatal diagnosis in ...for prenatal diagnosis, and it can cover the most subjects in the early ...

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Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan

Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan

... about prenatal screening/diagnosis for ...for prenatal testing that consider the 16 minimal standards recommended by the IPDAS, ensure comprehensibility and contain practical decision support ...in ...

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A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings

A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings

... non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, ...in prenatal ultrasound scan at 19 +3 ...

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Non-invasive prenatal testing reveals copy number variations related to pregnancy complications

Non-invasive prenatal testing reveals copy number variations related to pregnancy complications

... non-invasive prenatal testing technologies could detect genetic variations, such as aneuploidies and sub-chromosomal copy number variations, reflecting defective placenta by maternal plasma ...

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The expressivist objection to prenatal testing : the experiences of families living with genetic disease

The expressivist objection to prenatal testing : the experiences of families living with genetic disease

... to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights ...that prenatal testing and selective ...

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'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan.

'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan.

... that testing for DS is broadly acceptable to parents within some low-income countries although these studies do not explore links with understandings of the condition in any depth (Arif, Fatmi, Pardeep, Ali, ...

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Case Report Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT)

Case Report Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT)

... Abstract: Microdeletions of chromosome 13q31.1 are relatively rare. These types of deletions may cause different genetic effects on genotypes and/or phenotypes. There are several ways to detect microdeletions; ...

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Original Article Diagnostic differences between patients opting for non-invasive prenatal testing and patients having traditional prenatal diagnosis

Original Article Diagnostic differences between patients opting for non-invasive prenatal testing and patients having traditional prenatal diagnosis

... cffDNA testing, only three patients received amniocentesis because of abnormal ultraso- und findings in later ultrasound ...ultrasound testing shows positive find- ...cffDNA testing to amniocentesis. ...

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Improving women’s knowledge about prenatal screening in the era of non invasive prenatal testing for Down syndrome – development and acceptability of a low literacy decision aid

Improving women’s knowledge about prenatal screening in the era of non invasive prenatal testing for Down syndrome – development and acceptability of a low literacy decision aid

... non-invasive prenatal testing (NIPT) is steadily becoming available to screen for Down syn- drome in early pregnancy [7, ...existing prenatal screening programmes ...

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Mere Deviation, Critically Assessing Prenatal Testing

Mere Deviation, Critically Assessing Prenatal Testing

... surrounding prenatal testing by focusing on the status of genetic knowledge gained through evolving testing procedures and on the way in which parents are cast as risk managers through their use of ...

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A Choice of Evils in Prenatal Testing

A Choice of Evils in Prenatal Testing

... Forceful as this passage is, it conflates two distinct concerns: the so- cial and psychological impact of a prenatal testing regime on people with disabilities, and the “kind of message it sends”—its ...

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Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test

Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test

... of prenatal testing is the reduction of the number of unnecessary invasive proce- dures and this is mainly achieved with the use of ...bust testing performance in SCAs and similar to autosomal ...

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Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies

Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies

... vasive testing are higher in twin pregnancies than in sin- gletons [8, ...non-invasive prenatal testing (NIPT) to screen for fetal aneuploidy is especially ...

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Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

... Noninvasive prenatal testing of cell-free DNA in mater- nal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, revolutionized the approach to prenatal fetal aneuploidies ...

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A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

... Peripheral blood (10 ml) was collected in Streck tubes (Streck, USA) from the pregnant woman. Cell free DNA was extracted. Sequencing library preparation and se- quencing were conducted according to the instruction. ...

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Disability Equality and Prenatal Testing: Contradictory or Compatible?

Disability Equality and Prenatal Testing: Contradictory or Compatible?

... on prenatal testing have different views on the merits of testing depending upon the age of onset of the condition, I discuss the social practice of prenatal testing without regard to ...

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