Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

Gil, M. M.; Akolekar, Ranjit; Quezada, M.S.; Bregant, Barbara; Nicolaides, Kypros H.

doi:10.1159/000358326

Cited by 131 publications

(161 citation statements)

References 72 publications

Supporting

Mentioning

155

Contrasting

Unclassified

Order By: Relevance

“…No pregnancies were terminated after abnormal NIPT without confirmation in chorionic villi or amniotic fluid cells. Detection rates (DR) for the common trisomies (96% for trisomy 21, 100% for trisomies 13 and 18) and false positive rates (0.14% for trisomies 21 and 13, 0.07% for trisomy 18) were comparable to previous studies 12. Our data support introduction of NIPT as a safe second‐tier screening test to accurately select the small proportion of women truly at high risk for fetal trisomy, and to reliably reassure all others.…”

Section: Discussionsupporting

confidence: 81%

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

et al. 2016

View full text Add to dashboard Cite

ObjectiveTo evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study).MethodWomen with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn‐around time and pregnancy outcome.ResultsBetween 1 April and 1 September 2014, 1413/23 232 (6%) women received a high‐risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy‐nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn‐around time was 14 days. Follow‐up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%.ConclusionIntroduction of NIPT in the Dutch National healthcare‐funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

show abstract

Section: Discussionsupporting

confidence: 81%

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

et al. 2016

View full text Add to dashboard Cite

show abstract

“…cffDNA is NOT an alternative to first trimester screening that can easily pick up structural abnormalities which are more common than chromosomal abnormalities [1,3,5]. The advantages of early diagnosis of a structural abnormality in terms of patient counseling and ease of early termination (in case the abnormality warrants it) cannot be over emphasized.…”

Section: Dear Editorsmentioning

confidence: 99%

“…Women with very high risk (C1:10) should be offered invasive testing, whereas women with intermediate risk (1:11-1:2500) should be offered cffDNA. This policy would require cfDNA for 1/4th of the screened population and detect 98 % of trisomies at an invasive rate of only 0.8 % [5].…”

Section: Dear Editorsmentioning

confidence: 99%

Comments on Editorial: Has Noninvasive Prenatal Testing (NIPT) Come of Age?

Singh

Kaul

2015

J Obstet Gynecol India

View full text Add to dashboard Cite

“…For trisomy 21, individual studies showed the detection rate (DR) ranges between 94.4% and 100%, and false positive rates (FPR) ranges between 0 and 2.1% [9]. Fairly good results have been demonstrated for detection of trisomy 18, while screening for trisomy 13 and monosomy X has a poorer performance due to the highly variable amplification of these chromosomes with lower guanosine and cytosine content.…”

mentioning

confidence: 99%

“…Use of NIPT has been proposed for use as either screening for the general obstetric population or as a contingent screening test in high-risk groups. The first option would be quite expensive given the sheer volume of tests performed and the subsequent invasive testing required for positive cases (number of false positives expected is about 1%) [9]. However, this option would maximize the prenatal detection rate (99%).…”

mentioning

confidence: 99%

Invasive or non-invasive prenatal genetic diagnosis?

Monni

Zoppi

Iuculano

et al. 2014

Journal of Perinatal Medicine

View full text Add to dashboard Cite

About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis and definitive diagnosis [6,20,21,27]. The development of such techniques was facilitated by improvements in instrumentation and technology, and was further propelled by the advancement of cytogenetics and molecular genetic techniques [3,13,14,22].However, invasive prenatal diagnosis carries the inherent risk of fetal loss, which is low, but not negligible (amniocentesis and CVS approximately 0.3%-0.5% and FBS 1%-2%). In addition, there is a significant economic burden from the costs associated with laboratory techniques. Public health programs of nations interested in the utilization of invasive procedures have generally limited their use to high-risk cases, where the risk of procedure related loss is comparable to the risk of an affected fetus for a given condition [25,26]. As a result, in the 1980s amniocentesis was offered to women at higher risk of trisomy 21 based on maternal age alone, if there was an increased risk due to prior complications or pre-existing conditions (i.e., chromosomal alterations in the parents or in prior offspring), or because of prenatal detection of fetal malformations or other abnormal ultrasound findings. The initial policies led to an offering of invasive prenatal diagnosis to 5% of all pregnant women (positive screen rate), with a 40% detection rate for trisomy 21.With the advent of biochemical screening tests using maternal serum in the second trimester, the "triple" and "quadruple screen", the detection rate of trisomy 21 increased to 60% [28]. Meanwhile, with advancements in ultrasound, numerous reports were published that identified sonographic "markers" for trisomy 21, leading to additional screening with a "genetic ultrasound" in the second trimester [1]. However, second trimester ultrasound for the purposes of screening an unselected population never gained universal acceptance, and was primarily used in higher-risk populations (i.e., a woman with advanced maternal age that wished to avoid invasive testing). At this time, second trimester amniocentesis was the primary invasive diagnostic test practiced, while fetal blood sampling by cordocentesis was utilized when a diagnostic test was desired later in the second trimester, often in the setting of identification of a fetal anomaly in the second trimester ultrasound. As mean maternal age at childbirth continued to increase, especially in Western countries, alongside increasing scientific advancements, the number of indications for prenatal diagnosis rose. This trend led to an increased rate of invasive prenatal diagnosis, based on maternal age alone up to 15-20% in some nations, and spurred a search for new solutions.In the mid-1990s,...

show abstract

Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

Cited by 131 publications

References 72 publications

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

Comments on Editorial: Has Noninvasive Prenatal Testing (NIPT) Come of Age?

Invasive or non-invasive prenatal genetic diagnosis?

Contact Info

Product

Resources

About