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Non-Invasive Prenatal Testing (NIPT)
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Nuria Balaguer, Emilia Mateu-Brull, Miguel Milán
Non-invasive prenatal testing (NIPT) is a class of screening for fetal chromosomal or genetic conditions utilizing cell-free fetal DNA (cffDNA) in maternal plasma or serum (1). Until the development of this tool, the diagnosis of fetal chromosomal or genetic disorders required invasive sampling of fetal or placental tissues by amniocentesis or chorionic villus sampling (CVS). Although accurate, invasive sampling procedures involve a small but definite risk of fetal loss and maternal morbidity (2). Therefore, non-invasive methods of prenatal testing, like NIPT, are highly favored.
Preimplantation Genetic Testing and Reproductive Genetics from a Physician's Perspective
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
If needed, feedback on therapeutic results can be provided by prenatal follow-up assessments using invasive or noninvasive methods. Such tests should be used where there are factors with an impact on test sensitivity or specificity, including, e.g., the transfer of mosaic embryos. Noninvasive prenatal testing (NIPT) is based on the presence of free fetal DNA released from apoptotic placental cells in the mother's blood [47]. Currently, in cases of mosaic embryo transfers, it is universally recommended to use invasive methods; however, future use of noninvasive tests is not unthinkable with the increasing robustness and accuracy of NIPT methods.
Debate: Should PGT-A Still Be Performed in Recurrent Pregnancy Loss? Yes
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
Carmen M. García-Pascual, Pilar López, Nasser Al-Asmar, Pere Mir, Lorena Rodrigo, Carlos Simon, Carmen Rubio
Notably, although the risk of having a live birth with a chromosomal aberration is low following PGT-A, the risk is not zero. PGT-A does carry the possibility of a false-positive result; studies using more dated platforms suggest that this occurs in up to 2%–4% of cases [8,9]. In contrast, the percentage of false negatives is almost zero [10]. Another critical aspect of PGT-A is the percentage of non-informative results in each lab. With experienced embryologists and molecular biology labs, this rate should be low (below 2% of the biopsies analyzed), and rebiopsy can be offered if embryos are not arrested [11,12]. While misdiagnosis of embryos remains unlikely, a noninvasive prenatal test (NIPT) may also be recommended [13]. Because it uses only maternal blood samples, NIPT does not affect the trajectory of pregnancy, unlike invasive methods such as amniocentesis. Such invasive testing would be required only if a positive result is observed in the NIPT test.
Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool
Published in Journal of Obstetrics and Gynaecology, 2023
Ho Yin Diana Lee, Lin Wai Chan
Over the period of three months, among the eligible 217 women, 198 questionnaires were collected, giving a response rate of 91.2%. 5 from the control group and 4 from the study group were excluded because the questionnaires distributed were mixed, leaving a total of 189 for the final analysis, 116 from the study group and 73 from the control (Figure 1). The mean gestation at which NIPT was performed was 11 weeks and 5 days and the median time interval between NIPT and filling in the questionnaire was 6 days (IQR 4-10.75) for the study group and 3.5 days (IQR 1.25–7.00) for the control group. Background demographics including age, gestation, parity, marital status, conception method, ethnicity, education level, smoking and drinking status did not differ significantly between the two groups as shown in Table 1.
Focus on the frontier issue: progress in noninvasive prenatal screening for fetal trisomy from clinical perspectives
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Meng Tian, Lei Feng, Jinming Li, Rui Zhang
The discovery of cell-free fetal DNA (cffDNA) in maternal blood and the rapid development of massively parallel sequencing (MPS) have provided unprecedented opportunities for noninvasive prenatal genetic testing of common fetal trisomy disorders (Figure 1(A)) [7]. Noninvasive prenatal screening (NIPS), also called noninvasive prenatal testing (NIPT), is a risk-free method based on the presence of cell-free DNA (cfDNA) in the plasma of pregnant women. This method aims to detect any functional or structural abnormalities in the developing fetus as early as possible to guide clinical decision-making [8,9]. The risk of fetal chromosomal aneuploidy can be calculated by collecting maternal peripheral blood, extracting cfDNA, and performing next-generation sequencing (NGS) technology supplemented by bioinformatics analysis [9]. The diagnostic procedure is illustrated in Figure 1(B).
Anticipatory Governance of Noninvasive Prenatal Testing for “Non-Medical” Traits: Lessons from Regulation of Medically Assisted Reproduction
Published in The American Journal of Bioethics, 2023
Hui Zhang, Jing Wang, Yan Qin, Chuanfeng Zhang, Bingwei Wang, Yuming Wang
Sex selection for non-medical purposes is one of the most contentious and heavily regulated applications of PGT. In many areas of the world, sex selection is a common phenomenon, which may be motivated by a son preference and possibly also for family balancing (Bowman-Smart et al. 2020). For example, in China and India, sex-selective termination of pregnancy (TOP), often driven by son preference, distorts the natural sex ratio and has several negative social effects. Thus, regulations place a blanket prohibition on prenatal sex determination in these countries (Ginoza and Isasi 2020). However, NIPT may facilitate an increase in sex-selective TOP, owing to its ease, safety, accuracy, and availability early in gestation. Widespread sex selection could not only lead to harm at the social level (increase the disturbance of the sex ratio in countries with cultural son preference) but also lead to ethical concerns at the individual level (sex selection for family balancing) (Bowman-Smart et al. 2020). We believe that the regulatory lessons of the disclosure of fetal sex information to pregnant women should be learned with the use of NIPT for sex-determination.