Overview of the impact of noninvasive prenatal testing on diagnostic procedures
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Abstract Noninvasive prenatal testing (NIPT) has had a profound influence in the field of prenatal diagnosis since the 1997 discovery of cell‐free fetal DNA in maternal blood. Research has progressed rapidly, with clinical data supporting laboratory studies showing that NIPT is highly sensitive and specific for fetal aneuploidy, resulting in marked uptake in the high‐risk patient population. The superior accuracy of NIPT compared with conventional screening methods has led to significant decreases in the number of invasive diagnostic procedures, in addition to a concomitant decrease in the number of procedure‐related fetal losses. Yet, NIPT has been described as a ‘disruptive innovation’ due to the considerable changes the technology has commanded on current prenatal screening and diagnostic practices. This review summarizes both institutional and global experience with NIPT uptake, its effect on reducing diagnostic invasive procedures, and the unique challenges that reduced procedural volume may have on physician and trainee proficiency, cytogenetic laboratories, and neonatal outcome. © 2015 John Wiley & Sons, Ltd.Keywords:
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Obstet Gynecol Surv 2016;71(3):146–147 One of the most important technical advances in prenatal care in recent times is analysis of cell-free DNA (cfDNA) in the maternal plasma to screen for fetal aneuploidy. Use of cfDNA screening for aneuploidy was clinically introduced in 2011 in the United States, China, and Hong Kong and has since been used primarily in pregnancies at increased risk of fetal aneuploidy because of maternal age, traditional screen results, ultrasonographic findings, or other risk factors.
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Sonographic diagnosis of fetal abnormalities is based on the recognition of sonographic patterns associated with structural abnormalities. Although diagnosis in some situations, such as neural tube defects, gastroschisis, and omphalocoele, can be straightforward, in many situations, the constellation of fetal abnormalities suggest an underlying chromosomal or genetic cause. In these situations, invasive testing is needed to provide the information required to make a definitive diagnosis, and thus accurately counsel parents. Since the identification of cell-free fetal DNA in maternal plasma, the potential for non-invasive prenatal diagnosis is increasingly becoming possible. In this chapter, the current role and future potential of non-invasive prenatal diagnosis, combined with new molecular techniques as an aid to sonographic diagnosis, will be discussed.
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Genetic factors are the important reasons for birth defects.Among genetic factors,chromosome abnormality is the most common.Prenatal diagnosis can effectively avoid fetus of abnormal chromosome being born.Noninvasive prenatal diagnosis has more advantage than invasive prenatal diagnosis,such as non-invasive,painless and safe.It is bound to become the main method of prenatal diagnosis.However,non-invasive prenatal diagnosis is still in its infancy stage and the accuracy and sensitivity of detection are pending and need further clinical validation.This article will present a variety of non-invasive prenatal diagnostic methods using cell-free fetal DNA (RNA) and their advantages and disadvantages will be discussed.(Chin J Lab Med,2013,36:14-17)
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Prenatal diagnosis; Fetus; DNA; RNA
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Traditional prenatal diagnosis depends on invasive manipulations,which have potential risks for fetus.Nowadays the technologies of non-invasive prenatal diagnosis(NIPD) focus on isolation of fetal intact cells from maternal circulation and extraction of cell-free fetal DNA,but these two methods have limitations in clinical applications.Recently the foundation of cell-free RNA in maternal blood has become a great breakthrough in NIPD.The cffRNA has been proved to origin from placenta,and easy to detect due to stable characteristics.The cffRNA has more advantages in clinical applications than cffDNA because the former does not need to depend on fetal gender or paternal polymorphic markers.The preliminary accomplishment has been made in prenatal diagnosis of Down syndrome through the combination with quantitative methods for molecular markers.The development of cffRNA will offer a good application prospect for NIPD of aneuploidy.
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Objective:To establish a useful cell free fetal DNA(cff-DNA) extracting and detecting method for β-thalassemia prenatal diagnosis.Methods:26 pregnant women were sampled by invasive and noninvasive ways respectively,traditional genetic diagnosis and cff-DNA detecting were followed.Results:Among 26 samples,8 cases were identified as normal,11 and 7 were identified as heterozygous and duplex heterozygous by traditional genetic diagnosis;10 cases were detected as IVS-Ⅱ-654 mutation,15 negatives,1 failure in all 26 cff-DNA tests.Conclusions:Using cff-DNA for prenatal diagnosis is an effective method,But maternal cell free-DNA is an influence fartor in the tests.
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We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma.Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal".Identified studies were filtered using a QUADAS instrument.Four studies were identified and analyzed using QUADAS.The studies included 4167 cases of Down syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 100% and specificity of 99.3%;There were 3455 cases of Edwards syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 97.4% and specificity of 99.95%.Therefore, noninvasive prenatal diagnosis can be used to identify abnormal chromosomes with high accuracy using free fetal DNA in the maternal plasma.
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The discovery of cell-free fetal DNA (cff-DNA) in maternal plasma offered a new way to noninvasive prenatal diagnosis for single gene disorders. In the past decade, many techniques such as real-time PCR, pyrophosphorolysis-activated polymerization, mass spectrum and digital PCR have been developed for noninvasive prenatal diagnosis. In this review, the author discuss the principles, applications, advantages and disadvantages of these techniques.
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Cell-free DNA screening for fetal aneuploidy is a commonly used testing strategy in pregnancies at high risk for fetal aneuploidy. The use of cell-free DNA screening is expanding to the low-risk population, because the detection rate for trisomy 21 surpasses that of traditional screening modalities. Although the sensitivity and specificity of cell-free DNA are superior to traditional screening, false-positive results do occur and may indicate an adverse maternal health condition, including maternal mosaicism or, rarely, malignancy. The risk of maternal cancer is significantly elevated when more than one aneuploidy is detected that is discordant from fetal karyotype. Given this risk as well as the rising incidence of cancer in pregnancy, patient counseling and malignancy evaluation should be considered in women when more than one aneuploidy is detected. We reviewed the published literature and developed an algorithm to evaluate women when these results are identified.
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