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Noninvasive prenatal testing (NIPT) using cell-free DNA in maternal blood is increasingly common compared with invasive testing (IT) in routine antenatal detection of Down syndrome (DS).
Molecular size determination of circulating free fetal DNA in maternal plasma is an important detection method for noninvasive prenatal testing (NIPT). The fetal DNA molecule is the primary factor determining the overall performance of NIPT and its clinical interpretation. The proportion of cell-free fetal DNA molecules is expressed as the fetal DNA fraction in the plasma of pregnant women.
Non-invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and very early in gestation. There are concerns that the ease, timing and accuracy of NIPT sex determination will facilitate sex-selective termination of pregnancy (TOP). Here we review current practice, the evidence for a link between NIPT and sex-selective TOP, and associated ethical issues. Sex-selective TOP, usually motivated by son preference, has had serious demographic consequences in countries such as India and C...
To report the clinical experience and performance of plasma cell-free DNA sequencing-based noninvasive -prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, 13 (T21/T18/T13) as well as sex chromosome aneuploidy (SCA) in a mixed-risk population in Iran.
Expanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analytic pipeline to achieve high performance in the noninvasive detection of CNVs will largely contribute to the application of CNVs screening in clinical practice.
Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosome disorders. Recent studies show an incidental detection of maternal malignancies in NIPT diagnostics, where the simultaneous presence of multiple aneuploidies is described as an NIPT "anomaly". In this case, the diagnosis of a maternal tumor disease was made due to a repeat NIPT failure (no call).
To assess the performance of non-invasive prenatal testing (NIPT) in screening sex chromosome aneuploidy (SCA), and explore prenatal decision-making in NIPT positive cases.
The introduction of non-invasive prenatal testing (NIPT) for Down syndrome (DS) has sparked social and ethical debates. To date, in-depth exploration of the voices of Australian mothers of a child with DS about NIPT has been lacking. The purpose of this study was to investigate the perspectives of Australian mothers of a child with DS towards the increasing availability of NIPT.
The aim of this study was to evaluate the clinical feasibility of non-invasive prenatal testing (NIPT) to detect foetal copy number variations (CNVs). Next-generation sequencing for detecting foetal copy number variations (CNVs) was performed on the collected samples from 161 pregnancies with ultrasound anomalies and negative NIPT results for aneuploidy. The performance of NIPT for detecting chromosome aberrations was calculated. The sensitivity and specificity of NIPT for detecting CNVs > 1 Mb were 83.3...
Maternal copy number variation (CNV), especially at the X chromosome is an important cause of false positive noninvasive prenatal test (NIPT) results for sex chromosomal aneuploidy. In addition, some maternal CNV can cause significant anomalies if the male fetus was inherited the X chromosome with CNV. During 1000 high risk Korean NIPT, we incidentally detected two cases of maternal X chromosomal CNV which can cause abnormal phenotype in a male fetus. The first false-positive NIPT case (47, XXY) was due to ...
The purpose of this study was to describe current genetic counseling practice in the United States following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). Screening for SCAs can be confounded by confined placental mosaicism, natural loss of the X chromosome from maternal cells during aging, and undiagnosed maternal SCA or copy number variant (CNV). Furthermore, with the exception of 45,X, individuals with SCAs usually have no ultrasound or postnatal findings....
To evaluate the impact of introduction of non-invasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies.
Technological progress has led to changes in the antenatal screening programmes, most significantly the introduction of non-invasive prenatal testing (NIPT). The availability of a new type of testing changes the type of information that the parent(s) require before, during and after screening to mitigate anxiety about the testing process and results.
To eliminate the miscarriage risks caused by traditional invasive sampling methods, we develop a noninvasive prenatal paternity testing (NIPPT) method and evaluate its efficiency, reliability and sensitivity based on a scaled trial.
The aim of this study was to explore what women are saying about non-invasive prenatal testing (NIPT) in online discussion forums.
To assess the diagnostic performance of a novel circulating single molecule amplification and re-sequencing technology (cSMART) method for non-invasive prenatal testing (NIPT) of Phenylketonuria (PKU).
To assess the value of increased nuchal translucency (NT) at first-trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell-free DNA (cfDNA) for the detection of fetal aneuploidies.
This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT).
Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown ori...
Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) is highly accurate in the detection of common fetal autosomal trisomies. Aim of this project was to investigate short-term costs and clinical outcomes of the contingent use of cffDNA for prenatal screening of trisomies 21, 18, 13 within a national health service (NHS).
There is much global research interest into the use of cell-free DNA (cfDNA) for liquid biopsies. cfDNA-based noninvasive prenatal testing (NIPT) for fetal chromosomal aneuploidies was the first success in using cfDNA technology to profoundly transform clinical practice, and has been rapidly adopted in dozens of countries and used by millions of pregnant women every year. Prompted by such developments, efforts to use cfDNA for other fields, especially for cancer detection and monitoring have been actively p...
Prenatal screening and testing are preference-based health care options. They are offered so that pregnant women and their partners can learn genetic information about the developing fetus. In this literature review, I summarize studies of women's and their partners' psychological responses to prenatal testing and screening. These studies investigate the experiences of pregnant women, largely in the United States, who have access to health care services. Although the results indicate that these women are re...
To investigate decision-making among pregnant women when choosing between non-invasive prenatal testing, invasive testing or no further testing.
To investigate the association between cfDNA levels measured during non-invasive prenatal testing (NIPT) and the risk of pregnancy complications in a Chinese population.
As prenatal diagnostic services expand throughout low-income countries an important consideration is the appropriateness of these services for patients. In these countries, services now include prenatal ultrasound and occasionally genetic testing. To assess patient interest, we surveyed pregnant patients at a hospital in Addis Ababa, Ethiopia on their preferences for prenatal testing and termination of affected pregnancies for congenital anomalies and genetic diseases.