Impact Of Noninvasive Prenatal Testing Research Articles

The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis.

Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including Down's syndrome (DS). The introduction of this test, which may have implications for important decisions made during pregnancy, requires continual monitoring and evaluation. This systematic review aims to assess the extent of NIPT introduction into national screening programmes for DS worldwide, its uptake, and impact on pregnancy outcomes. The study protocol was published in PROSPERO (CRD42022306167). We systematically searched MEDLINE, CINAHL, Scopus, and Embase for population-based studies, government guidelines, and Public Health documents from 2010 onwards. Results summarised the national policies for NIPT implementation into screening programmes geographically, along with population uptake. Meta-analyses estimated the pooled proportions of women choosing invasive prenatal diagnosis (IPD) following a high chance biochemical screening result, before and after NIPT was introduced. Additionally, we meta-analysed outcomes (termination of pregnancy and live births) amongst high chance pregnancies identified by NIPT. Results demonstrated NIPT implementation in at least 27 countries. Uptake of second line NIPT varied, from 20.4% to 93.2% (n = 6). Following NIPT implementation, the proportion of women choosing IPD after high chance biochemical screening decreased from 75% (95% CI 53%, 88%, n = 5) to 43% (95%CI 31%, 56%, n = 5), an absolute risk reduction of 38%. A pooled estimate of 69% (95% CI 52%, 82%, n = 7) of high chance pregnancies after NIPT resulted in termination, whilst 8% (95% CI 3%, 21%, n = 7) had live births of babies with DS. NIPT has rapidly gained global acceptance, but population uptake is influenced by healthcare structures, historical screening practices, and cultural factors. Our findings indicate a reduction in IPD tests following NIPT implementation, but limited pre-NIPT data hinder comprehensive impact assessment. Transparent, comparable data reporting is vital for monitoring NIPT's potential consequences.

A systematic review of the global implementation and impact of non-invasive prenatal testing (NIPT) during prenatal screening for Down’s syndrome

A systematic review of the global implementation and impact of non-invasive prenatal testing (NIPT) during prenatal screening for Down’s syndrome

Analysis of the impact of noninvasive prenatal testing for trisomies 21 and 18 in twin pregnancies undergoing artificial reproductive technology.

Purpose:The purpose of this study was to evaluate the performance and impact of noninvasive prenatal screening (NIPS) on twin pregnancies.Patients and methods:Twin pregnancies after artificial reproductive technology(ART) were tested by NIPS for screening trisomy 21, 18, and 13 in a single medical center in Hangzhou. Positive NIPS results were confirmed by karyotyping, while negative results were interviewed after delivery.Results:From January 2019 to December 2020, 474 twin pregnancies were tested by NIPS for screening trisomy 21, 18, and 13 in a single medical center in Hangzhou. The performance of NIPS had been evaluated compared to the invasive diagnostic results. The positive predictive value (PPV) of NIPS for chromosome 21 and 18 aneuploidies is 80% (95CI, 36.09–96.59) and 100%, respectively. The incidence of trisomy 21, and 18 chromosome aneuploidies among the twin pregnancies undergoing ART was 0.84% and 0.21%, respectively.Conclusion:The performance of NIPS was substantially accurate among the twin pregnancies after ART in this study, and NIPS potentially avoided a considerable part of aneuploidies liveborn in twin pregnancies in Hangzhou.

The impact of noninvasive prenatal testing on clinical factors related to chromosome analysis using amniotic fluid in a tertiary perinatal center

The impact of noninvasive prenatal testing on clinical factors related to chromosome analysis using amniotic fluid in a tertiary perinatal center

Implementing Publicly Funded Noninvasive Prenatal Testing for Fetal Aneuploidy in Ontario, Canada: Clinician Experiences With a Disruptive Technology.

The last decade has experienced unprecedented uptake of noninvasive prenatal testing (NIPT), creating significant changes in the way prenatal clinicians provide services. Through the lens of social shaping of technology, we examine the effects of the introduction of this technology on the health care system in Ontario, Canada. Using a qualitative descriptive approach, we conducted a cross-sectional study investigating clinicians' perspectives of NIPT in 2014, 2016, and 2018. Through in-depth interviews (n = 37), we explored their perspectives on the impact of NIPT on their referral practices, workload, coordination of testing modalities, education and counseling, and elicited their views on recent expansions of the test. Findings suggest that the introduction of NIPT has created unintended consequences with respect to clinician workload and wellness, clinician education, equity of access, and public system resources. Responsiveness from decision makers is key to ensuring the responsible use of NIPT in the health care system.

Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.

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 practices, 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 China. Currently, ultrasound is the primary method by which parents determine the sex of the fetus. The diffusion of ultrasound technology has had a direct impact on the rates of sex‐selective TOP. Although NIPT is currently more costly, it is feasible that increased uptake of this technology could have a similar effect. Partly because NIPT is a relatively recent development in prenatal screening, there is little data on the impact of NIPT on sex selection practices. Evidence that NIPT is playing a role in sex‐selective TOP remains largely anecdotal. Further research is required to assess and quantify TOP resulting from NIPT sex determination. The use of these technologies for sex selection raises a number of ethical issues, in addition to practical demographic consequences.

Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing.

To assess the impact of non-invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births. Retrospective population-based cohort study from 1986-2016 of all women undergoing prenatal diagnosis before 25weeks gestation in the Australian state of Victoria. Statistical significance was tested using the chi-square test for trend or proportions. There were 2,043,345 births and 842 SCA diagnoses from 1986-2016. The percentage of prenatal diagnostic tests leading to a SCA diagnosis increased significantly from 0.95% in 2010 to 2.93% in 2016 (p<0.001) but due to a concurrent decline in testing, the annual prenatal diagnosis rate of SCA remained stable at 4.4/10,000 births. Among confirmed fetal SCAs the most common indication for testing in 1986 was advanced maternal age (63%); in 2016 it was high risk NIPT (49%). SCAs now make up an increasing proportion of prenatal diagnostic results but due to the overall decline in diagnostic testing, the prenatal prevalence as a percentage of births remained steady. The ascertainment of fetal SCA has evolved from an incidental finding after testing for increased risk of trisomy 21, to a diagnosis obtained after suspected SCA on NIPT.

Has Noninvasive Prenatal Testing Impacted Termination of Pregnancy and Live Birth Rates of Infants With Down Syndrome?

Background Implementation of noninvasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down syndrome (DS). Aim The aim of the study was to investigate the impact of NIPT on termination and live birth rates for DS. Methods Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high-risk NIPT result for DS. Two audits of pregnancy outcomes where NIPT indicated DS were conducted in the United Kingdom and Singapore. Results Fourteen studies from the United States, Asia, Europe, and the United Kingdom were included in the review. Live births of children with DS were reported in 8 studies. Termination rates following NIPT were unchanged or decreased when compared to termination rates prior to the introduction of NIPT. Audits found 15 of 43 women in the United Kingdom and 2 of 6 in Singapore continued pregnancies following a high-risk NIPT result. Conclusions Termination rates following the detection of DS by NIPT are unchanged or decreased compared to historical termination rates. Impact on live birth rates may be minimal in settings where termination rates fall. Population-based studies are required to determine the true impact.

The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening.

The aim of this study was to (1) examine the psychological impact of non-invasive prenatal testing (NIPT) in women with a high-risk (≥1:300) and low-risk (≤1:301) result on combined first trimester screening (cFTS) and (2) to examine factors influencing anxiety and decision-making in both risk populations. Questionnaires and structured interviews were administered to low (n=50) and high (n=63) risk women at the time of NIPT blood draw (point A) and again at least 1week after receiving their NIPT result (point B). Anxiety levels were measured at these two time points using the State-Trait Anxiety Inventory. Both high-risk and low-risk cFTS groups demonstrated similar intrinsic (trait) anxiety levels (36±10 vs 35±10; p=0.70). High-risk women had significantly higher levels of state anxiety at point A than low-risk women (42±11 vs 36±11; p<0.01). Both groups had a statistically significant reduction (p<0.01), to similar final levels of state anxiety at point B (30±11 vs 29±8; p=0.61). Women receiving a high-risk result on cFTS have higher levels of state anxiety than their low-risk counterparts. Following a low-risk NIPT result, the anxiety levels in both populations are reduced to similar levels. © 2017 John Wiley & Sons, Ltd.

State‐wide impact of noninvasive prenatal testing (NIPT) on fetal aneuploidy screening and diagnosis in Victoria

State‐wide impact of noninvasive prenatal testing (NIPT) on fetal aneuploidy screening and diagnosis in Victoria

Impact of non-invasive prenatal Testing (NIPT) on invasive procedures in a tertiary referral center

Purpose: To investigate the influence of NIPT on the frequency of invasive procedures in a tertiary referral center.

Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China.

This study describes the cytogenetic characteristics of 7,133 trisomy 21 (Tri21) identified from 247,818 consecutive postnatal cases karyotyped in a single reference laboratory in China for a period of 4 years. The average detection rate of Tri21 is 2.88% ranging from 3.39% in 2011 to 2.52% in 2014. The decreased detection rates over the years might reflect a possible impact of noninvasive prenatal testing applied rapidly in China and elective termination of affected pregnancies. 95.32% of the Tri21 karyotypes are standard Tri21, 4.53% are Robertsonian Tri21, and less than 1% are other Tri21 forms. There are more mosaic Tri21 in older children and adults, consistent with previous observations that clinical features in individuals with mosaic Tri21 are generally milder and easily missed during perinatal period. The male/female (M/F ratio) for the total 7,133 Tri21 cases and for the 6,671 cases with non-mosaic standard Tri21 are 1.50 and 1.53 respectively, significantly higher than the 0.93 for all the 247,818 cases we karyotyped, the 1.30 for the Down syndrome (DS) identified during perinatal period in China, and the 1.20 for the livebirth in Chinese population. In contrast, the mosaic standard Tri21 case has a significantly lower proportion of males when compared with the non-mosaic standard Tri21, indicating different underlying mechanisms leading to their formations. Opposite M/F ratios in different subtypes of ROB Tri21 were observed. A long list of rare or private karyotypes where Tri21 are concurrently present was identified. The large collection of Tri21 cases with a diversity of clinical findings and a wide age range allowed us to determine the frequency of the different karyotypes of Down syndrome in China, given the fact that this kind of national epidemiological data is lacking currently.

Overview of the impact of noninvasive prenatal testing on diagnostic procedures.

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.

ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice.

ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice.

The Impact of Noninvasive Prenatal Testing on the Practice of Maternal-Fetal Medicine—Podcast #7

The Impact of Noninvasive Prenatal Testing on the Practice of Maternal-Fetal Medicine—Podcast #7

Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting.

To prospectively determine the impact of noninvasive prenatal testing (NIPT) on invasive procedure utilization in a managed care setting and to elucidate women's views. Pregnant women at 10- 20 weeks' gestation with high-risk indications for fetal aneuploidy in the Kaiser Permanente Southern California organization were eligible. Enrolled patients received routine prenatal counseling, completed a questionnaire and were offered the option of NIPT by a genetic counselor. Downstream data through 28 weeks' gestation were collected from the electronic medical record (EMR). The EMR was also used to identify a matched historical cohort from 1 year prior to NIPT availability. Rates of invasive prenatal procedures were compared using McNemar's test. Two hundred women completed the questionnaire and underwent NIPT. Twenty-two subjects (11%) in the prospective cohort underwent an invasive prenatal procedure compared with 58 (29%) in the historical cohort (p<0.0001). Safety and accuracy were the most important factors in considering NIPT. At the time of survey, only 12% indicated being very comfortable with the possibility of undergoing amniocentesis. This prospective study demonstrates a 62% reduction in invasive prenatal procedures after NIPT testing and finds safety, accuracy, and personal beliefs key to women's decision-making.

Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States

Noninvasive prenatal testing using cell-free DNA is a new alternative to screen for common fetal aneuploidies. It is not known what impact regional location may play on noninvasive prenatal testing implementation and downstream invasive prenatal procedure use in the United States. Six different regionally based centers collected data on noninvasive prenatal testing indication and results between February and November 2012, as well as their invasive prenatal procedure rates before and after offering noninvasive prenatal testing. Statistical analyses were performed using the 2-proportion Z-test. Of 1477 patients who underwent noninvasive prenatal testing; 693 (47%) were from centers in the West; 522 (35.3%) from centers in the East; and 262 (17.7%) from 1 center in the Midwest. Statistically significant differences were observed between West Coast and nonWest Coast sites for gestational age (14.1 weeks; P ≤ .0001). Advanced maternal age (AMA-only) was the most frequent indication in 5 of 6 sites (range, 21.8-62.9%) Atotal of 98 invasive prenatal procedures performed on 94 (6.4%) patients of which 64 (65.3%) were performed at centers in the West. More invasive procedures were performed following negative noninvasive prenatal testing results (n= 61) than abnormal noninvasive prenatal testing results (n= 30). The overall rate of patients undergoing invasive procedure after an abnormal noninvasive prenatal testing result was 32.6% (30 of 92). All 6 centers reported a decrease in invasive procedure volume after noninvasive prenatal testing introduction. This study demonstrates differences in clinical implementation of noninvasive prenatal testing across regionally dispersed centers in the United States, suggesting patient demographics and views toward prenatal testing influence use as well as downstream management.

The Impact of Noninvasive Prenatal Testing on the Practice of Maternal–Fetal Medicine

Noninvasive prenatal testing (NIPT) via cell-free fetal DNA in the maternal circulation is a highly sensitive and specific new testing option. The objective of this study was to determine the impact of NIPT on the uptake of first trimester screening (FTS) and invasive genetic testing. Uptake of prenatal testing was investigated in women referred for advanced maternal age or abnormal screening to the University of Texas Health Maternal-Fetal Medicine Clinics in Houston. Patients who presented from August to November 2011, before clinical introduction of NIPT, were compared with patients who presented from March to June 2012, after its introduction. In patients referred between 14 and 22 weeks gestational age, invasive genetic testing was significantly reduced following the introduction of NIPT (35.4 vs. 17.9%, p < 0.05). For patients referred at < 14 weeks gestational age, FTS was significantly reduced with NIPT introduction (89.1 vs. 59.1%, p < 0.05); however, invasive genetic testing was not significantly different (20.0 vs. 14.0%, p > 0.05). NIPT has made an impact on the practice of maternal-fetal medicine by significantly decreasing the number of second trimester diagnostic tests performed. In addition, patients interested in early screening information appear to prefer the higher sensitivity and specificity of NIPT.

555: The impact of non-invasive prenatal testing on the practice of maternal fetal medicine

Identifying pregnancies at increased risk for aneuploidy has been a part of the practice of maternal–fetal medicine for several decades. Originally, women were identified based on maternal age alone and given the option of diagnostic testing via chorionic villus sampling (CVS) or amniocentesis to determine the fetal karyotype. Recently, maternal serum screening tests, with or without ultrasound findings, were developed for use in the general obstetrical population to identify at-risk pregnancies.1,2 Since CVS and amniocentesis carry a risk for miscarriage, research has continued to pursue other means of obtaining the fetal genetic complement. Recently, three separate multicenter trials of noninvasive prenatal testing (NIPT) showed that analyzing cell-free DNA in the maternal circulation results in a highly sensitive and specific testing option for fetal aneuploidy, with 98 to 100% detection rate at < 0.3% false-positive rate for Down syndrome and 97 to 100% detection rate at < 0.28% false-positive rate for trisomy 18.3–6 The detection rate for trisomy 13 varied more widely across studies, ranging from 79 to 92% with < 1% false-positive rate.4,6 Advances in prenatal screening for aneuploidy have led to a decrease in invasive testing and an increase in screening in the

OC28.06: Potential role and clinical impact of noninvasive prenatal testing by massively parallel DNA sequencing of maternal blood

A. Kaasen1, A. Helbig1, A. Heiberg2, K. Eiklid3, T. Naes4,5, U. F. Malt6,7, G. Haugen1,7 1Department of Obstetrics, Oslo University Hospital, Rikshospitalet, Oslo, Norway; 2Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway; 3Department of Medical Genetics, Oslo University Hospital, Ulleval, Oslo, Norway; 4Nofima, As, Norway; 5University of Copenhagen, Copenhagen, Denmark; 6Department of Neuropsychiatry and Psychosomatic Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway; 7University of Oslo, Oslo, Norway