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Noninvasive Prenatal Testing - When Is It Advantageous to Apply.

ABSTRACT: Nowadays it is common sense in obstetrics that an increased risk for pregnancy loss due to invasive testing does not exist. Nonetheless, noninvasive prenatal testing (NIPT) is a hot topic, even though this approach does not provide a reduction of unintentionally induced abortions. NIPT has a number of shortcuts which are highlighted in this review, including: (1) in NIPT placental rather than fetal DNA is studied, (2) NIPT fails in 2-6% of cases, and (3) trisomy 21 accounts for only ?50% of existing chromosomal aberrations. Thus, we agree with the literature that NIPT is a fascinating possibility to gain information on unborn life from minimal amounts of DNA. However, it remains a pure risk estimation test directed towards the detection of specific chromosomal abnormalities from peripheral blood of the pregnant woman. It is important to highlight that families buying this test, and getting a normal result, may be provided with a false sense of security. Thus, careful and comprehensive genetic counselling should be performed before the test is offered, and should include a clear explanation of the advantages and disadvantages, as well as limitations, compared to other methods.

SUBMITTER: Liehr T

PROVIDER: S-EPMC6945944 | biostudies-literature | 2017 Jan-Apr

REPOSITORIES: biostudies-literature

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Noninvasive Prenatal Testing - When Is It Advantageous to Apply.

Liehr Thomas T Lauten Angela A Schneider Uwe U Schleussner Ekkehard E Weise Anja A

Biomedicine hub 20170101 1

Nowadays it is common sense in obstetrics that an increased risk for pregnancy loss due to invasive testing does not exist. Nonetheless, noninvasive prenatal testing (NIPT) is a hot topic, even though this approach does not provide a reduction of unintentionally induced abortions. NIPT has a number of shortcuts which are highlighted in this review, including: (1) in NIPT placental rather than fetal DNA is studied, (2) NIPT fails in 2-6% of cases, and (3) trisomy 21 accounts for only ∼50% of exis ...[more]

PMID: 31988902

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Project description:Introduction: Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is typically carried out to screen for common fetal chromosomal anomalies, with the option to screen for a wider range of chromosomal changes (expanded NIPT) becoming increasingly available. However, little is known about pregnant patients' attitudes and preferences regarding expanded NIPT. Methods: To address this gap, we surveyed general-risk patients having first-tier cfDNA screening at a private prenatal clinic on their expectations for expanded NIPT. Patients were asked questions regarding their current pregnancy and previous pregnancy history, their opinions on fetal DNA screenings during pregnancy and incidental findings, information and opinions on financial resources for NIPT, as well as socio-cultural questions to determine patient demographics. Results: Of the 200 survey participants, the majority were educated, self-reported as white, had a higher than average income, and reported no aneuploidy risk factors. When asked what information they would like to receive from cfDNA screening, the vast majority of participants wanted all information available that could have an immediate impact on fetal health (88%) or an immediate impact on infant health from birth (82%). Many participants also wanted information that could have a future impact on the child's health or an immediate or future impact on the pregnant woman's own health. Most participants wanted information about the sex of fetus (86%) and common trisomies (71%), with almost half of participants desiring information about rare autosomal aneuploidies and/or all genetic information that may affect the baby. In addition, participants were found to be comfortable screening for conditions that are well-known, influence care during pregnancy, and are treatable. Finally, while most respondents either had insurance coverage for NIPT or were able to afford NIPT out of pocket, the majority of our participants felt that expanded NIPT should be either free for everyone or for those considered high risk. Discussion: Our findings suggest that with appropriate pre-test counseling, pregnant patients may choose NIPT for an expanding list of conditions.

Dataset Information

Noninvasive Prenatal Testing - When Is It Advantageous to Apply.

Publications

Noninvasive Prenatal Testing - When Is It Advantageous to Apply.

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