The Experts below are selected from a list of 110523 Experts worldwide ranked by ideXlab platform
Melissa Stosic - One of the best experts on this subject based on the ideXlab platform.
-
detection of triploid molar and vanishing twin pregnancies by a Single Nucleotide Polymorphism based noninvasive prenatal test
American Journal of Obstetrics and Gynecology, 2015Co-Authors: Kirsten J Curnow, Megan P Hall, Zachary Demko, Styrmir Sigurjonsson, Matthew Rabinowitz, Allison M Ryan, Melissa Stosic, Louise Wilkinshaug, Eser Kirkizlar, Susan J GrossAbstract:Objective We sought to determine the ability of Single-Nucleotide Polymorphism–based noninvasive prenatal testing (NIPT) to identify triploid, unrecognized twin, and vanishing twin pregnancies. Study Design The study included 30,795 consecutive reported clinical cases received for NIPT for fetal whole-chromosome aneuploidies; known multiple gestations were excluded. Cell-free DNA was isolated from maternal blood samples, amplified via 19,488-plex polymerase chain reaction, and sequenced. Sequencing results were analyzed to determine fetal chromosome copy number and to identify the presence of additional fetal haplotypes. Results Additional fetal haplotypes, indicative of fetal triploidy, vanishing twin, or undetected twin pregnancy, were identified in 130 (0.42%) cases. Clinical confirmation (karyotype for Singleton pregnancies, ultrasound for multifetal pregnancies) was available for 58.5% (76/130) of cases. Of the 76 cases with confirmation, 42.1% were vanishing twin, 48.7% were viable twin, 5.3% were diandric triploids, and 3.9% were nontriploid pregnancies that lacked evidence of co-twin demise. One pregnancy had other indications suggesting triploidy but lacked karyotype confirmation. Of the 5 vanishing twin cases with a known date of demise, 100% of losses occurred in the first trimester; up to 8 weeks elapsed between loss and detection by NIPT. Conclusion This Single-Nucleotide Polymorphism–based NIPT successfully identified vanished twin, previously unrecognized twin, and triploid pregnancies. As vanishing twins are more likely to be aneuploid, and undetected residual cell-free DNA could bias NIPT results, the ability of this method to identify additional fetal haplotypes is expected to result in fewer false-positive calls and prevent incorrect fetal sex calls.
-
clinical experience and follow up with large scale Single Nucleotide Polymorphism based noninvasive prenatal aneuploidy testing
American Journal of Obstetrics and Gynecology, 2014Co-Authors: Peer Dar, Megan P Hall, Bernhard Zimmermann, Zachary Demko, Matthew Hill, Styrmir Sigurjonsson, Melissa Stosic, Kirsten J Curnow, Susan J Gross, Allison RyanAbstract:Objective We sought to report on laboratory and clinical experience following 6 months of clinical implementation of a Single-Nucleotide Polymorphism–based noninvasive prenatal aneuploidy test in high- and low-risk women. Study Design All samples received from March through September 2013 and drawn ≥9 weeks' gestation were included. Samples that passed quality control were analyzed for trisomy 21, trisomy 18, trisomy 13, and monosomy X. Results were reported as high or low risk for fetal aneuploidy for each interrogated chromosome. Relationships between fetal fraction and gestational age and maternal weight were analyzed. Follow-up on outcome was sought for a subset of high-risk cases. False-negative results were reported voluntarily by providers. Positive predictive value (PPV) was calculated from cases with an available prenatal or postnatal karyotype or clinical evaluation at birth. Results Samples were received from 31,030 patients, 30,705 met study criteria, and 28,739 passed quality-control metrics and received a report detailing aneuploidy risk. Fetal fraction correlated positively with gestational age, and negatively with maternal weight. In all, 507 patients received a high-risk result for any of the 4 tested conditions (324 trisomy 21, 82 trisomy 18, 41 trisomy 13, 61 monosomy X; including 1 double aneuploidy case). Within the 17,885 cases included in follow-up analysis, 356 were high risk, and outcome information revealed 184 (51.7%) true positives, 38 (10.7%) false positives, 19 (5.3%) with ultrasound findings suggestive of aneuploidy, 36 (10.1%) spontaneous abortions without karyotype confirmation, 22 (6.2%) terminations without karyotype confirmation, and 57 (16.0%) lost to follow-up. This yielded an 82.9% PPV for all aneuploidies, and a 90.9% PPV for trisomy 21. The overall PPV for women aged ≥35 years was similar to the PPV for women aged Conclusion The data from this large-scale report on clinical application of a commercially available noninvasive prenatal test suggest that the clinical performance of this Single-Nucleotide Polymorphism–based noninvasive prenatal test in a mixed high- and low-risk population is consistent with performance in validation studies.
-
Single Nucleotide Polymorphism based noninvasive prenatal screening in a high risk and low risk cohort
Obstetrics & Gynecology, 2014Co-Authors: Eugene Pergament, Megan P Hall, Bernhard Zimmermann, Styrmir Sigurjonsson, Howard Cuckle, Milena Banjevic, Allison M Ryan, Michael Dodd, Phil Lacroute, Melissa StosicAbstract:Objective To estimate performance of a Single-Nucleotide-Polymorphism–based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations upon Single venopuncture.
-
Single Nucleotide Polymorphism based noninvasive prenatal screening in a high risk and low risk cohort
Obstetrics & Gynecology, 2014Co-Authors: Eugene Pergament, Megan P Hall, Bernhard Zimmermann, Styrmir Sigurjonsson, Howard Cuckle, Milena Banjevic, Michael Dodd, Phil Lacroute, Allison Ryan, Melissa StosicAbstract: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 w
Megan P Hall - One of the best experts on this subject based on the ideXlab platform.
-
detection of triploid molar and vanishing twin pregnancies by a Single Nucleotide Polymorphism based noninvasive prenatal test
American Journal of Obstetrics and Gynecology, 2015Co-Authors: Kirsten J Curnow, Megan P Hall, Zachary Demko, Styrmir Sigurjonsson, Matthew Rabinowitz, Allison M Ryan, Melissa Stosic, Louise Wilkinshaug, Eser Kirkizlar, Susan J GrossAbstract:Objective We sought to determine the ability of Single-Nucleotide Polymorphism–based noninvasive prenatal testing (NIPT) to identify triploid, unrecognized twin, and vanishing twin pregnancies. Study Design The study included 30,795 consecutive reported clinical cases received for NIPT for fetal whole-chromosome aneuploidies; known multiple gestations were excluded. Cell-free DNA was isolated from maternal blood samples, amplified via 19,488-plex polymerase chain reaction, and sequenced. Sequencing results were analyzed to determine fetal chromosome copy number and to identify the presence of additional fetal haplotypes. Results Additional fetal haplotypes, indicative of fetal triploidy, vanishing twin, or undetected twin pregnancy, were identified in 130 (0.42%) cases. Clinical confirmation (karyotype for Singleton pregnancies, ultrasound for multifetal pregnancies) was available for 58.5% (76/130) of cases. Of the 76 cases with confirmation, 42.1% were vanishing twin, 48.7% were viable twin, 5.3% were diandric triploids, and 3.9% were nontriploid pregnancies that lacked evidence of co-twin demise. One pregnancy had other indications suggesting triploidy but lacked karyotype confirmation. Of the 5 vanishing twin cases with a known date of demise, 100% of losses occurred in the first trimester; up to 8 weeks elapsed between loss and detection by NIPT. Conclusion This Single-Nucleotide Polymorphism–based NIPT successfully identified vanished twin, previously unrecognized twin, and triploid pregnancies. As vanishing twins are more likely to be aneuploid, and undetected residual cell-free DNA could bias NIPT results, the ability of this method to identify additional fetal haplotypes is expected to result in fewer false-positive calls and prevent incorrect fetal sex calls.
-
clinical experience and follow up with large scale Single Nucleotide Polymorphism based noninvasive prenatal aneuploidy testing
American Journal of Obstetrics and Gynecology, 2014Co-Authors: Peer Dar, Megan P Hall, Bernhard Zimmermann, Zachary Demko, Matthew Hill, Styrmir Sigurjonsson, Melissa Stosic, Kirsten J Curnow, Susan J Gross, Allison RyanAbstract:Objective We sought to report on laboratory and clinical experience following 6 months of clinical implementation of a Single-Nucleotide Polymorphism–based noninvasive prenatal aneuploidy test in high- and low-risk women. Study Design All samples received from March through September 2013 and drawn ≥9 weeks' gestation were included. Samples that passed quality control were analyzed for trisomy 21, trisomy 18, trisomy 13, and monosomy X. Results were reported as high or low risk for fetal aneuploidy for each interrogated chromosome. Relationships between fetal fraction and gestational age and maternal weight were analyzed. Follow-up on outcome was sought for a subset of high-risk cases. False-negative results were reported voluntarily by providers. Positive predictive value (PPV) was calculated from cases with an available prenatal or postnatal karyotype or clinical evaluation at birth. Results Samples were received from 31,030 patients, 30,705 met study criteria, and 28,739 passed quality-control metrics and received a report detailing aneuploidy risk. Fetal fraction correlated positively with gestational age, and negatively with maternal weight. In all, 507 patients received a high-risk result for any of the 4 tested conditions (324 trisomy 21, 82 trisomy 18, 41 trisomy 13, 61 monosomy X; including 1 double aneuploidy case). Within the 17,885 cases included in follow-up analysis, 356 were high risk, and outcome information revealed 184 (51.7%) true positives, 38 (10.7%) false positives, 19 (5.3%) with ultrasound findings suggestive of aneuploidy, 36 (10.1%) spontaneous abortions without karyotype confirmation, 22 (6.2%) terminations without karyotype confirmation, and 57 (16.0%) lost to follow-up. This yielded an 82.9% PPV for all aneuploidies, and a 90.9% PPV for trisomy 21. The overall PPV for women aged ≥35 years was similar to the PPV for women aged Conclusion The data from this large-scale report on clinical application of a commercially available noninvasive prenatal test suggest that the clinical performance of this Single-Nucleotide Polymorphism–based noninvasive prenatal test in a mixed high- and low-risk population is consistent with performance in validation studies.
-
genomic imbalance in products of conception Single Nucleotide Polymorphism chromosomal microarray analysis
Obstetrics & Gynecology, 2014Co-Authors: Brynn Levy, Megan P Hall, Zachary Demko, Styrmir Sigurjonsson, B Pettersen, Melissa K Maisenbacher, Ruth B Lathi, Rosina Tao, Vimla Aggarwal, Matthew RabinowitzAbstract:OBJECTIVE:To report the full cohort of identifiable anomalies, regardless of known clinical significance, in a large-scale cohort of postmiscarriage products-of-conception samples analyzed using a high-resolution Single-Nucleotide Polymorphism (SNP)–based microarray platform. High-resolution chromos
-
Single Nucleotide Polymorphism based noninvasive prenatal screening in a high risk and low risk cohort
Obstetrics & Gynecology, 2014Co-Authors: Eugene Pergament, Megan P Hall, Bernhard Zimmermann, Styrmir Sigurjonsson, Howard Cuckle, Milena Banjevic, Allison M Ryan, Michael Dodd, Phil Lacroute, Melissa StosicAbstract:Objective To estimate performance of a Single-Nucleotide-Polymorphism–based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations upon Single venopuncture.
-
Single Nucleotide Polymorphism based noninvasive prenatal screening in a high risk and low risk cohort
Obstetrics & Gynecology, 2014Co-Authors: Eugene Pergament, Megan P Hall, Bernhard Zimmermann, Styrmir Sigurjonsson, Howard Cuckle, Milena Banjevic, Michael Dodd, Phil Lacroute, Allison Ryan, Melissa StosicAbstract: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 w
Styrmir Sigurjonsson - One of the best experts on this subject based on the ideXlab platform.
-
detection of triploid molar and vanishing twin pregnancies by a Single Nucleotide Polymorphism based noninvasive prenatal test
American Journal of Obstetrics and Gynecology, 2015Co-Authors: Kirsten J Curnow, Megan P Hall, Zachary Demko, Styrmir Sigurjonsson, Matthew Rabinowitz, Allison M Ryan, Melissa Stosic, Louise Wilkinshaug, Eser Kirkizlar, Susan J GrossAbstract:Objective We sought to determine the ability of Single-Nucleotide Polymorphism–based noninvasive prenatal testing (NIPT) to identify triploid, unrecognized twin, and vanishing twin pregnancies. Study Design The study included 30,795 consecutive reported clinical cases received for NIPT for fetal whole-chromosome aneuploidies; known multiple gestations were excluded. Cell-free DNA was isolated from maternal blood samples, amplified via 19,488-plex polymerase chain reaction, and sequenced. Sequencing results were analyzed to determine fetal chromosome copy number and to identify the presence of additional fetal haplotypes. Results Additional fetal haplotypes, indicative of fetal triploidy, vanishing twin, or undetected twin pregnancy, were identified in 130 (0.42%) cases. Clinical confirmation (karyotype for Singleton pregnancies, ultrasound for multifetal pregnancies) was available for 58.5% (76/130) of cases. Of the 76 cases with confirmation, 42.1% were vanishing twin, 48.7% were viable twin, 5.3% were diandric triploids, and 3.9% were nontriploid pregnancies that lacked evidence of co-twin demise. One pregnancy had other indications suggesting triploidy but lacked karyotype confirmation. Of the 5 vanishing twin cases with a known date of demise, 100% of losses occurred in the first trimester; up to 8 weeks elapsed between loss and detection by NIPT. Conclusion This Single-Nucleotide Polymorphism–based NIPT successfully identified vanished twin, previously unrecognized twin, and triploid pregnancies. As vanishing twins are more likely to be aneuploid, and undetected residual cell-free DNA could bias NIPT results, the ability of this method to identify additional fetal haplotypes is expected to result in fewer false-positive calls and prevent incorrect fetal sex calls.
-
clinical experience and follow up with large scale Single Nucleotide Polymorphism based noninvasive prenatal aneuploidy testing
American Journal of Obstetrics and Gynecology, 2014Co-Authors: Peer Dar, Megan P Hall, Bernhard Zimmermann, Zachary Demko, Matthew Hill, Styrmir Sigurjonsson, Melissa Stosic, Kirsten J Curnow, Susan J Gross, Allison RyanAbstract:Objective We sought to report on laboratory and clinical experience following 6 months of clinical implementation of a Single-Nucleotide Polymorphism–based noninvasive prenatal aneuploidy test in high- and low-risk women. Study Design All samples received from March through September 2013 and drawn ≥9 weeks' gestation were included. Samples that passed quality control were analyzed for trisomy 21, trisomy 18, trisomy 13, and monosomy X. Results were reported as high or low risk for fetal aneuploidy for each interrogated chromosome. Relationships between fetal fraction and gestational age and maternal weight were analyzed. Follow-up on outcome was sought for a subset of high-risk cases. False-negative results were reported voluntarily by providers. Positive predictive value (PPV) was calculated from cases with an available prenatal or postnatal karyotype or clinical evaluation at birth. Results Samples were received from 31,030 patients, 30,705 met study criteria, and 28,739 passed quality-control metrics and received a report detailing aneuploidy risk. Fetal fraction correlated positively with gestational age, and negatively with maternal weight. In all, 507 patients received a high-risk result for any of the 4 tested conditions (324 trisomy 21, 82 trisomy 18, 41 trisomy 13, 61 monosomy X; including 1 double aneuploidy case). Within the 17,885 cases included in follow-up analysis, 356 were high risk, and outcome information revealed 184 (51.7%) true positives, 38 (10.7%) false positives, 19 (5.3%) with ultrasound findings suggestive of aneuploidy, 36 (10.1%) spontaneous abortions without karyotype confirmation, 22 (6.2%) terminations without karyotype confirmation, and 57 (16.0%) lost to follow-up. This yielded an 82.9% PPV for all aneuploidies, and a 90.9% PPV for trisomy 21. The overall PPV for women aged ≥35 years was similar to the PPV for women aged Conclusion The data from this large-scale report on clinical application of a commercially available noninvasive prenatal test suggest that the clinical performance of this Single-Nucleotide Polymorphism–based noninvasive prenatal test in a mixed high- and low-risk population is consistent with performance in validation studies.
-
genomic imbalance in products of conception Single Nucleotide Polymorphism chromosomal microarray analysis
Obstetrics & Gynecology, 2014Co-Authors: Brynn Levy, Megan P Hall, Zachary Demko, Styrmir Sigurjonsson, B Pettersen, Melissa K Maisenbacher, Ruth B Lathi, Rosina Tao, Vimla Aggarwal, Matthew RabinowitzAbstract:OBJECTIVE:To report the full cohort of identifiable anomalies, regardless of known clinical significance, in a large-scale cohort of postmiscarriage products-of-conception samples analyzed using a high-resolution Single-Nucleotide Polymorphism (SNP)–based microarray platform. High-resolution chromos
-
Single Nucleotide Polymorphism based noninvasive prenatal screening in a high risk and low risk cohort
Obstetrics & Gynecology, 2014Co-Authors: Eugene Pergament, Megan P Hall, Bernhard Zimmermann, Styrmir Sigurjonsson, Howard Cuckle, Milena Banjevic, Allison M Ryan, Michael Dodd, Phil Lacroute, Melissa StosicAbstract:Objective To estimate performance of a Single-Nucleotide-Polymorphism–based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations upon Single venopuncture.
-
Single Nucleotide Polymorphism based noninvasive prenatal screening in a high risk and low risk cohort
Obstetrics & Gynecology, 2014Co-Authors: Eugene Pergament, Megan P Hall, Bernhard Zimmermann, Styrmir Sigurjonsson, Howard Cuckle, Milena Banjevic, Michael Dodd, Phil Lacroute, Allison Ryan, Melissa StosicAbstract: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 w
Arunava Majumdar - One of the best experts on this subject based on the ideXlab platform.
-
room temperature Single Nucleotide Polymorphism and multiallele dna detection using fluorescent nanocrystals and microarrays
Analytical Chemistry, 2003Co-Authors: Daniele Gerion, Fanqing Chen, Balaji Kannan, Wolfgang J Parak, David J Chen, Arunava MajumdarAbstract:We report two cDNA microarray-based applications of DNA-nanocrystal conjugates, Single-Nucleotide Polymorphism (SNP) and multiallele detections, using a commercial scanner and two sets of nanocrystals with orthogonal emissions. We focus on SNP mutation detection in the human p53 tumor suppressor gene, which has been found to be mutated in more than 50% of the known human cancers. DNA-nanocrystal conjugates are able to detect both SNP and Single-base deletion at room temperature within minutes, with true-to-false signal ratios above 10. We also demonstrate microarray-based multiallele detection, using hybridization of multicolor nanocrystals conjugated to two sequences specific for the hepatitis B and hepatitis C virus, two common viral pathogens that inflict more than 10% of the population in the developing countries worldwide. The simultaneous detection of multiple genetic markers with microarrays and DNA-nanocrystal conjugates has no precedent and suggests the possibility of detecting an even greater number of bacterial or viral pathogens simultaneously.
-
room temperature Single Nucleotide Polymorphism and multiallele dna detection using fluorescent nanocrystals and microarrays
Analytical Chemistry, 2003Co-Authors: Daniele Gerion, Fanqing Chen, Balaji Kannan, Wolfgang J Parak, David J Chen, Arunava MajumdarAbstract:We report two cDNA microarray-based applications of DNA−nanocrystal conjugates, Single-Nucleotide Polymorphism (SNP) and multiallele detections, using a commercial scanner and two sets of nanocrystals with orthogonal emissions. We focus on SNP mutation detection in the human p53 tumor suppressor gene, which has been found to be mutated in more than 50% of the known human cancers. DNA−nanocrystal conjugates are able to detect both SNP and Single-base deletion at room temperature within minutes, with true-to-false signal ratios above 10. We also demonstrate microarray-based multiallele detection, using hybridization of multicolor nanocrystals conjugated to two sequences specific for the hepatitis B and hepatitis C virus, two common viral pathogens that inflict more than 10% of the population in the developing countries worldwide. The simultaneous detection of multiple genetic markers with microarrays and DNA−nanocrystal conjugates has no precedent and suggests the possibility of detecting an even greater nu...
Daniele Gerion - One of the best experts on this subject based on the ideXlab platform.
-
room temperature Single Nucleotide Polymorphism and multiallele dna detection using fluorescent nanocrystals and microarrays
Analytical Chemistry, 2003Co-Authors: Daniele Gerion, Fanqing Chen, Balaji Kannan, Wolfgang J Parak, David J Chen, Arunava MajumdarAbstract:We report two cDNA microarray-based applications of DNA-nanocrystal conjugates, Single-Nucleotide Polymorphism (SNP) and multiallele detections, using a commercial scanner and two sets of nanocrystals with orthogonal emissions. We focus on SNP mutation detection in the human p53 tumor suppressor gene, which has been found to be mutated in more than 50% of the known human cancers. DNA-nanocrystal conjugates are able to detect both SNP and Single-base deletion at room temperature within minutes, with true-to-false signal ratios above 10. We also demonstrate microarray-based multiallele detection, using hybridization of multicolor nanocrystals conjugated to two sequences specific for the hepatitis B and hepatitis C virus, two common viral pathogens that inflict more than 10% of the population in the developing countries worldwide. The simultaneous detection of multiple genetic markers with microarrays and DNA-nanocrystal conjugates has no precedent and suggests the possibility of detecting an even greater number of bacterial or viral pathogens simultaneously.
-
room temperature Single Nucleotide Polymorphism and multiallele dna detection using fluorescent nanocrystals and microarrays
Analytical Chemistry, 2003Co-Authors: Daniele Gerion, Fanqing Chen, Balaji Kannan, Wolfgang J Parak, David J Chen, Arunava MajumdarAbstract:We report two cDNA microarray-based applications of DNA−nanocrystal conjugates, Single-Nucleotide Polymorphism (SNP) and multiallele detections, using a commercial scanner and two sets of nanocrystals with orthogonal emissions. We focus on SNP mutation detection in the human p53 tumor suppressor gene, which has been found to be mutated in more than 50% of the known human cancers. DNA−nanocrystal conjugates are able to detect both SNP and Single-base deletion at room temperature within minutes, with true-to-false signal ratios above 10. We also demonstrate microarray-based multiallele detection, using hybridization of multicolor nanocrystals conjugated to two sequences specific for the hepatitis B and hepatitis C virus, two common viral pathogens that inflict more than 10% of the population in the developing countries worldwide. The simultaneous detection of multiple genetic markers with microarrays and DNA−nanocrystal conjugates has no precedent and suggests the possibility of detecting an even greater nu...
