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15 papers 25 to 100 followers
By Chad Klauser Maternal Fetal Medicine physician in NYC
(no author information available yet)
Noninvasive prenatal screening that uses cell-free DNA from the plasma of pregnant women offers tremendous potential as a screening method for fetal aneuploidy. A number of laboratories have validated different techniques for the use of cell-free DNA as a screening test for fetal aneuploidy. All tests have a high sensitivity and specificity for trisomy 18 and trisomy 21, regardless of which molecular technique is used. Women whose results are not reported, indeterminate, or uninterpretable (a "no call" test result) from cell-free DNA screening should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy...
September 2015: Obstetrics and Gynecology
Ronald J Wapner, Joshua E Babiarz, Brynn Levy, Melissa Stosic, Bernhard Zimmermann, Styrmir Sigurjonsson, Nicholas Wayham, Allison Ryan, Milena Banjevic, Phil Lacroute, Jing Hu, Megan P Hall, Zachary Demko, Asim Siddiqui, Matthew Rabinowitz, Susan J Gross, Matthew Hill, Peter Benn
OBJECTIVE: The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test for 5 microdeletion syndromes. STUDY DESIGN: Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified with the use of a massively multiplexed polymerase chain reaction, sequenced, and analyzed with the use of the Next-generation Aneuploidy Test Using SNPs algorithm for the presence or absence of deletions of 22q11...
March 2015: American Journal of Obstetrics and Gynecology
E Bevilacqua, M M Gil, K H Nicolaides, E Ordoñez, V Cirigliano, H Dierickx, P J Willems, J C Jani
OBJECTIVES: To report clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test. METHODS: cfDNA testing was performed in 515 twin pregnancies at 10-28 weeks' gestation. The failure rate of the test to provide results was compared with that in 1847 singleton pregnancies, and logistic regression analysis was used to determine which factors among maternal and pregnancy characteristics were significant predictors of test failure...
January 2015: Ultrasound in Obstetrics & Gynecology
Kara Juneau, Patrick E Bogard, Stephanie Huang, Morassa Mohseni, Eric T Wang, Paul Ryvkin, Christopher Kingsley, Craig A Struble, Arnold Oliphant, Jacob M Zahn
OBJECTIVE: To develop a microarray-based method for noninvasive prenatal testing (NIPT) and compare it with next-generation sequencing. METHODS: Maternal plasma from 878 pregnant women, including 187 trisomy cases (18 trisomy 13, 37 trisomy 18, 132 trisomy 21), was evaluated for trisomy risk. Targeted chromosomes were analyzed using Digital Analysis of Selected Regions (DANSR™) assays. DANSR products were subsequently divided between two DNA quantification methods: microarrays and next-generation sequencing...
2014: Fetal Diagnosis and Therapy
Jean Gekas, Sylvie Langlois, Vardit Ravitsky, François Audibert, David-Gradus van den Berg, Hazar Haidar, François Rousseau
Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT) was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures...
2014: Application of Clinical Genetics
Rossa W K Chiu
Prenatal screening of fetal chromosomal aneuploidies and some common genetic diseases is an integral part of antenatal care. Definitive prenatal diagnosis is conventionally achieved by the sampling of fetal genetic material by amniocentesis or chorionic villus sampling. Due to the invasiveness of those procedures, they are associated with a 1 in 200 chance of fetal miscarriage. Hence, researchers have been exploring noninvasive ways to sample fetal genetic material. The presence of cell-free DNA released by the fetus into the circulation of its mother was demonstrated in 1997...
2014: Scandinavian Journal of Clinical and Laboratory Investigation. Supplementum
Errol R Norwitz, Brynn Levy
Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s...
2013: Reviews in Obstetrics and Gynecology
Philip Twiss, Melissa Hill, Rebecca Daley, Lyn S Chitty
Prenatal screening and diagnosis of Down syndrome and other major aneuploidies may be transformed following the identification of cell-free fetal DNA in maternal plasma at the end of the last millennium. Next generation sequencing has enabled the development of tests that accurately predict the presence of fetal trisomies by analysis of cell-free DNA in maternal blood from as early as 10 weeks of gestation. These tests are now widely available in the commercial sector but are yet to be implemented in publicly led health services...
February 2014: Seminars in Fetal & Neonatal Medicine
L J Salomon, Z Alfirevic, F Audibert, K O Kagan, Dario Paladini, G Yeo, N Raine-Fenning
No abstract text is available yet for this article.
July 2014: Ultrasound in Obstetrics & Gynecology
D Oepkes, Y Yaron, P Kozlowski, M J Rego de Sousa, J L Bartha, E S van den Akker, S M Dornan, E Krampl-Bettelheim, M Schmid, M Wielgos, V Cirigliano, G C Di Renzo, A Cameron, P Calda, A Tabor
No abstract text is available yet for this article.
July 2014: Ultrasound in Obstetrics & Gynecology
Eugene Pergament, Howard Cuckle, Bernhard Zimmermann, Milena Banjevic, Styrmir Sigurjonsson, Allison Ryan, Megan P Hall, Michael Dodd, Phil Lacroute, Melissa Stosic, Nikhil Chopra, Nathan Hunkapiller, Dennis E Prosen, Sallie McAdoo, Zachary Demko, Asim Siddiqui, Matthew Hill, Matthew Rabinowitz
OBJECTIVE: To estimate performance of a single-nucleotide polymorphism-based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on single venopuncture. METHODS: One thousand sixty-four maternal blood samples from 7 weeks of gestation and beyond were included; 1,051 were within specifications and 518 (49.3%) were low risk. Cell-free DNA was amplified, sequenced, and analyzed using the Next-generation Aneuploidy Test Using SNPs algorithm...
August 2014: Obstetrics and Gynecology
Y Song, S Huang, X Zhou, Y Jiang, Q Qi, X Bian, J Zhang, Y Yan, D S Cram, J Liu
OBJECTIVES: To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8 + 0 and 12 + 6 weeks' gestation. METHODS: In this pilot study, 212 women with high-risk pregnancies were recruited at a single Chinese Hospital. Fetal aneuploidies associated with chromosomes 21, 18, 13, X and Y were detected by massively parallel sequencing of maternal plasma DNA samples...
January 2015: Ultrasound in Obstetrics & Gynecology
Jane Woolcock, Rosalie Grivell
BACKGROUND: Noninvasive prenatal testing (NIPT) has marked a revolution in aneuploidy screening because it allows a simple maternal blood test to detect Down syndrome in a fetus with a very high level of accuracy (at least 99.5% with a false-positive rate of 0.2%). OBJECTIVE: To describe the new tests that have become available and their place in antenatal screening to help GPs and their patients make informed decisions about their use. DISCUSSION: Results are available from 12 weeks gestation, giving a high level of reassurance for Down syndrome early in pregnancy...
July 2014: Australian Family Physician
Natalia Babkina, John M Graham
Determining a genetic diagnosis prenatally permits patients to make informed reproductive decisions and to be counseled about possible fetal outcomes. Therefore, it is important for the provider to be aware of the spectrum of genetic conditions and to use appropriate testing modality to obtain specific diagnosis. This article reviews genetic techniques available for prenatal diagnosis such as preimplantation genetic testing, chromosomal microarray, non-invasive prenatal screening, and next-generation sequencing...
June 2014: Seminars in Fetal & Neonatal Medicine
Richard P Porreco, Thomas J Garite, Kimberly Maurel, Barbara Marusiak, Mathias Ehrich, Dirk van den Boom, Cosmin Deciu, Allan Bombard
OBJECTIVE: The objective of this study was to validate the clinical performance of massively parallel genomic sequencing of cell-free deoxyribonucleic acid contained in specimens from pregnant women at high risk for fetal aneuploidy to test fetuses for trisomies 21, 18, and 13; fetal sex; and the common sex chromosome aneuploidies (45, X; 47, XXX; 47, XXY; 47, XYY). STUDY DESIGN: This was a prospective multicenter observational study of pregnant women at high risk for fetal aneuploidy who had made the decision to pursue invasive testing for prenatal diagnosis...
October 2014: American Journal of Obstetrics and Gynecology
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