Non-Invasive Prenatal Testing - Revision history

Z8600021 at 14:40, 24 August 2023

2023-08-24T14:40:03Z

← Older revision		Revision as of 00:40, 25 August 2023
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	===Reviews===		===Reviews===

			{{#pmid:37568933}}

	{{#pmid:26893576}}		{{#pmid:26893576}}

Z8600021 at 14:34, 24 August 2023

2023-08-24T14:34:05Z

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			* '''Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age'''{{#pmid:37606120\|PMID37606120}}Objective: This research aimed to explore the value of non-invasive prenatal testing (NIPT) as a prenatal screening method for common aneuploidy in pregnant women in advanced maternal age.Conclusions: NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.

	* '''Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy'''{{#pmid:31235575\|PMID31235575}} "Preimplantation genetic testing for aneuploidy (PGT-A) with trophectoderm (TE) biopsy is widely applied in in vitro fertilization (IVF) to identify aneuploid embryos. However, potential safety concerns regarding biopsy and restrictions to only those embryos suitable for biopsy pose limitations. In addition, embryo mosaicism gives rise to false positives and false negatives in PGT-A because the inner cell mass (ICM) cells, which give rise to the fetus, are not tested. Here, we report a critical examination of the efficacy of noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) in the spent culture media of human blastocysts by analyzing the cell-free DNA, which reflects ploidy of both the TE and ICM. Fifty-two frozen donated blastocysts with TE biopsy results were thawed; each of their spent culture medium was collected after 24-h culture and analyzed by next-generation sequencing (NGS). niPGT-A and TE-biopsy PGT-A results were compared with the sequencing results of the corresponding embryos, which were taken as true results for aneuploidy reporting. With removal of all corona-cumulus cells, the false-negative rate (FNR) for niPGT-A was found to be zero. By applying an appropriate threshold for mosaicism, both the positive predictive value (PPV) and specificity for niPGT-A were much higher than TE-biopsy PGT-A. Furthermore, the concordance rates for both embryo ploidy and chromosome copy numbers were higher for niPGT-A than TE-biopsy PGT-A. These results suggest that niPGT-A is less prone to errors associated with embryo mosaicism and is more reliable than TE-biopsy PGT-A."		* '''Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy'''{{#pmid:31235575\|PMID31235575}} "Preimplantation genetic testing for aneuploidy (PGT-A) with trophectoderm (TE) biopsy is widely applied in in vitro fertilization (IVF) to identify aneuploid embryos. However, potential safety concerns regarding biopsy and restrictions to only those embryos suitable for biopsy pose limitations. In addition, embryo mosaicism gives rise to false positives and false negatives in PGT-A because the inner cell mass (ICM) cells, which give rise to the fetus, are not tested. Here, we report a critical examination of the efficacy of noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) in the spent culture media of human blastocysts by analyzing the cell-free DNA, which reflects ploidy of both the TE and ICM. Fifty-two frozen donated blastocysts with TE biopsy results were thawed; each of their spent culture medium was collected after 24-h culture and analyzed by next-generation sequencing (NGS). niPGT-A and TE-biopsy PGT-A results were compared with the sequencing results of the corresponding embryos, which were taken as true results for aneuploidy reporting. With removal of all corona-cumulus cells, the false-negative rate (FNR) for niPGT-A was found to be zero. By applying an appropriate threshold for mosaicism, both the positive predictive value (PPV) and specificity for niPGT-A were much higher than TE-biopsy PGT-A. Furthermore, the concordance rates for both embryo ploidy and chromosome copy numbers were higher for niPGT-A than TE-biopsy PGT-A. These results suggest that niPGT-A is less prone to errors associated with embryo mosaicism and is more reliable than TE-biopsy PGT-A."

Z8600021 at 00:36, 7 August 2019

2019-08-07T00:36:03Z

← Older revision		Revision as of 10:36, 7 August 2019
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			* '''Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy'''{{#pmid:31235575\|PMID31235575}} "Preimplantation genetic testing for aneuploidy (PGT-A) with trophectoderm (TE) biopsy is widely applied in in vitro fertilization (IVF) to identify aneuploid embryos. However, potential safety concerns regarding biopsy and restrictions to only those embryos suitable for biopsy pose limitations. In addition, embryo mosaicism gives rise to false positives and false negatives in PGT-A because the inner cell mass (ICM) cells, which give rise to the fetus, are not tested. Here, we report a critical examination of the efficacy of noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) in the spent culture media of human blastocysts by analyzing the cell-free DNA, which reflects ploidy of both the TE and ICM. Fifty-two frozen donated blastocysts with TE biopsy results were thawed; each of their spent culture medium was collected after 24-h culture and analyzed by next-generation sequencing (NGS). niPGT-A and TE-biopsy PGT-A results were compared with the sequencing results of the corresponding embryos, which were taken as true results for aneuploidy reporting. With removal of all corona-cumulus cells, the false-negative rate (FNR) for niPGT-A was found to be zero. By applying an appropriate threshold for mosaicism, both the positive predictive value (PPV) and specificity for niPGT-A were much higher than TE-biopsy PGT-A. Furthermore, the concordance rates for both embryo ploidy and chromosome copy numbers were higher for niPGT-A than TE-biopsy PGT-A. These results suggest that niPGT-A is less prone to errors associated with embryo mosaicism and is more reliable than TE-biopsy PGT-A."

	* '''Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies'''{{#pmid:31249627\|PMID31249627}} "Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few studies have reported NIPT detection of rare fetal chromosome aneuploidies (RCAs). In this study, we evaluated the clinical practical performance of NIPT to analyze all 24 chromosome aneuploidies among 57,204 pregnancies in the Suzhou area of China. METHODS: This was a retrospective analysis of prospectively collected NIPT data from two next-generation sequencing (NGS) platforms (Illumina and Proton) obtained from The Affiliated Suzhou Hospital of Nanjing Medical University. NIPT results were validated by karyotyping or clinical follow-up. RESULTS: NIPT using the Illumina platform identified 586 positive cases; fetal karyotyping and follow-up results validated 178 T21 cases, 49 T18 cases, 4 T13 cases, and 52 SCAs. On the Proton platform, 270 cases were positive during NIPT. Follow-up confirmed 85 T21 cases, 17 T18 cases, 4 T13 cases, 28 SCAs, and 1 fetal chromosome 22 aneuploidy case as true positives. There were 5 false-negative results, including 4 T21 and 1 T18 cases. The NGS platforms showed similar sensitivities and positive predictive values (PPVs) in detecting T21, T18, T13 and SCAs (p > 0.01). However, the Proton platform showed better specificity in detecting 45, X and the Illumina platform had better specificity in detecting T13 (p < 0.01). The major factor contributing to NIPT false-positives on the Illumina platform was false SCAs cases (65.11%). Maternal chromosome aneuploidies, maternal cancers, and confined placental mosaicism caused discordant results between fetal karyotyping and NIPT. CONCLUSION: NIPT with NGS showed good performance for detecting T13, T18, and T21. The Proton platform had better performance for detecting SCAs, but the NIPT accuracy rate for detecting RCAs was insufficient."		* '''Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies'''{{#pmid:31249627\|PMID31249627}} "Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few studies have reported NIPT detection of rare fetal chromosome aneuploidies (RCAs). In this study, we evaluated the clinical practical performance of NIPT to analyze all 24 chromosome aneuploidies among 57,204 pregnancies in the Suzhou area of China. METHODS: This was a retrospective analysis of prospectively collected NIPT data from two next-generation sequencing (NGS) platforms (Illumina and Proton) obtained from The Affiliated Suzhou Hospital of Nanjing Medical University. NIPT results were validated by karyotyping or clinical follow-up. RESULTS: NIPT using the Illumina platform identified 586 positive cases; fetal karyotyping and follow-up results validated 178 T21 cases, 49 T18 cases, 4 T13 cases, and 52 SCAs. On the Proton platform, 270 cases were positive during NIPT. Follow-up confirmed 85 T21 cases, 17 T18 cases, 4 T13 cases, 28 SCAs, and 1 fetal chromosome 22 aneuploidy case as true positives. There were 5 false-negative results, including 4 T21 and 1 T18 cases. The NGS platforms showed similar sensitivities and positive predictive values (PPVs) in detecting T21, T18, T13 and SCAs (p > 0.01). However, the Proton platform showed better specificity in detecting 45, X and the Illumina platform had better specificity in detecting T13 (p < 0.01). The major factor contributing to NIPT false-positives on the Illumina platform was false SCAs cases (65.11%). Maternal chromosome aneuploidies, maternal cancers, and confined placental mosaicism caused discordant results between fetal karyotyping and NIPT. CONCLUSION: NIPT with NGS showed good performance for detecting T13, T18, and T21. The Proton platform had better performance for detecting SCAs, but the NIPT accuracy rate for detecting RCAs was insufficient."

	* '''Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomy 13, 18, and triploidy in women with low cell-free fetal DNA'''{{#pmid:30014528\|PMID30014528}} "To identify pregnancies at increased risk for {{trisomy 13}}, {{trisomy 18}}, and {{triploidy}} attributable to low fetal fraction (FF). METHODS: A FF-based risk (FFBR) model was built using data from >165,000 singleton pregnancies referred for SNP-based non-invasive prenatal testing (NIPT). Based on maternal weight and gestational age, FF distributions for normal, trisomy 13, trisomy 18, and triploid pregnancies were constructed and used to adjust prior risks for these abnormalities. A risk cutoff of ≥1% was chosen to define pregnancies at high risk for trisomy 13, trisomy 18, or triploidy (i.e., a high FFBR score). The model was evaluated on an independent blinded set of pregnancies for which SNP-based NIPT did not return a result, and for which retrospectively gathered pregnancy outcome information was available. RESULTS: The evaluation cohort comprised 1,148 cases, of which approximately half received a high FFBR score. Compared with incidence rates expected based on maternal age (MA) and gestational age (GA), cases with a high FFBR score had a significantly increased rate of trisomy 13, trisomy 18, or triploidy combined (5.7% vs. 0.7%; p<0.001) and of unexplained pregnancy loss (14.7% vs 10.4% p<0.001). For cases that did not receive a high FFBR score, the incidence of a chromosome abnormality or loss was not significantly different than that expected based on MA and GA. In the study cohort, the sensitivity of the FFBR model for detection of trisomy 13, trisomy 18, or triploidy was 91.4% (95% CI: 76.9-98.2) with a positive predictive value of 5.7% (32/564; 95% CI: 3.9-7.9). CONCLUSIONS: For pregnancies with a FF too low to receive a result on standard NIPT, the FFBR algorithm can identify a subset of cases at increased risk for trisomy 13, trisomy 18, or triploidy. For the remainder of cases, the risk for a fetal chromosome abnormality was unchanged."

	* '''Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal '''{{#pmid:27807286\|PMID27807286}} "We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. ...The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation."
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	\| {{Older papers}}		\| {{Older papers}}
			* '''Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomy 13, 18, and triploidy in women with low cell-free fetal DNA'''{{#pmid:30014528\|PMID30014528}} "To identify pregnancies at increased risk for {{trisomy 13}}, {{trisomy 18}}, and {{triploidy}} attributable to low fetal fraction (FF). METHODS: A FF-based risk (FFBR) model was built using data from >165,000 singleton pregnancies referred for SNP-based non-invasive prenatal testing (NIPT). Based on maternal weight and gestational age, FF distributions for normal, trisomy 13, trisomy 18, and triploid pregnancies were constructed and used to adjust prior risks for these abnormalities. A risk cutoff of ≥1% was chosen to define pregnancies at high risk for trisomy 13, trisomy 18, or triploidy (i.e., a high FFBR score). The model was evaluated on an independent blinded set of pregnancies for which SNP-based NIPT did not return a result, and for which retrospectively gathered pregnancy outcome information was available. RESULTS: The evaluation cohort comprised 1,148 cases, of which approximately half received a high FFBR score. Compared with incidence rates expected based on maternal age (MA) and gestational age (GA), cases with a high FFBR score had a significantly increased rate of trisomy 13, trisomy 18, or triploidy combined (5.7% vs. 0.7%; p<0.001) and of unexplained pregnancy loss (14.7% vs 10.4% p<0.001). For cases that did not receive a high FFBR score, the incidence of a chromosome abnormality or loss was not significantly different than that expected based on MA and GA. In the study cohort, the sensitivity of the FFBR model for detection of trisomy 13, trisomy 18, or triploidy was 91.4% (95% CI: 76.9-98.2) with a positive predictive value of 5.7% (32/564; 95% CI: 3.9-7.9). CONCLUSIONS: For pregnancies with a FF too low to receive a result on standard NIPT, the FFBR algorithm can identify a subset of cases at increased risk for trisomy 13, trisomy 18, or triploidy. For the remainder of cases, the risk for a fetal chromosome abnormality was unchanged."

			* '''Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal '''{{#pmid:27807286\|PMID27807286}} "We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. ...The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation."

	* '''Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into UK NHS maternity care'''{{#pmid:27378786\|PMID27378786}} "Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. All pregnant women with a current Down's syndrome risk on screening of at least 1/1000. NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. ...Implementation of NIPT as a contingent test within a public sector Down's syndrome screening programme can improve quality of care, choices for women, and overall performance within the current budget. As some women use NIPT for information only, the Down's syndrome live birth rate may not change significantly. Future research should consider NIPT uptake and informed decision making outside of a research setting." [[Trisomy 21]] \| [[United Kingdom Statistics]]		* '''Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into UK NHS maternity care'''{{#pmid:27378786\|PMID27378786}} "Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. All pregnant women with a current Down's syndrome risk on screening of at least 1/1000. NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. ...Implementation of NIPT as a contingent test within a public sector Down's syndrome screening programme can improve quality of care, choices for women, and overall performance within the current budget. As some women use NIPT for information only, the Down's syndrome live birth rate may not change significantly. Future research should consider NIPT uptake and informed decision making outside of a research setting." [[Trisomy 21]] \| [[United Kingdom Statistics]]

Z8600021 at 00:32, 7 August 2019

2019-08-07T00:32:23Z

← Older revision		Revision as of 10:32, 7 August 2019
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	[[File:Gestational age distribution NIPT.jpg\|thumb\|alt=graph Gestational age distribution at time of non-invasive prenatal testing\| Gestational age distribution at time of non-invasive prenatal testing (2014){{#pmid:25289665\|PMIDX25289665}}]]		[[File:Gestational age distribution NIPT.jpg\|thumb\|alt=graph Gestational age distribution at time of non-invasive prenatal testing\| Gestational age distribution at time of non-invasive prenatal testing (2014){{#pmid:25289665\|PMIDX25289665}}]]
	[[File:Chromosome-_trisomy.jpg\|thumb\|Trisomy 21 karyotype cartoon]]		[[File:Chromosome-_trisomy.jpg\|thumb\|Trisomy 21 karyotype cartoon]]
	Non-Invasive Prenatal Testing (NIPT) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.		Non-Invasive Prenatal Testing ({{NIPT}}) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.

	Testing of circulating cell-free fetal DNA (ccffDNA) can be carried out after 10 weeks (between 10-22 weeks) analysis can take a week or more. It has been most useful for replacing amniocentesis in testing for the trisomies; [[Trisomy 21]], [[Trisomy 18]], and [[Trisomy 13]].		Testing of circulating cell-free fetal DNA (ccffDNA) can be carried out after 10 weeks (between 10-22 weeks) analysis can take a week or more. It has been most useful for replacing amniocentesis in testing for the trisomies; {{Trisomy 21}}, {{Trisomy 18}}, and {{Trisomy 13}}.

	There are other pages that refer to postnatal diagnostic testing. (More? [[Neonatal Diagnosis]])		There are other pages that refer to postnatal diagnostic testing. (More? [[Neonatal Diagnosis]])

Z8600021 at 00:32, 26 July 2019

2019-07-26T00:32:57Z

← Older revision		Revision as of 10:32, 26 July 2019
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	* '''Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomy 13, 18, and triploidy in women with low cell-free fetal DNA'''{{#pmid:30014528\|PMID30014528}} "To identify pregnancies at increased risk for trisomy 13, trisomy 18, and triploidy attributable to low fetal fraction (FF). METHODS: A FF-based risk (FFBR) model was built using data from >165,000 singleton pregnancies referred for SNP-based non-invasive prenatal testing (NIPT). Based on maternal weight and gestational age, FF distributions for normal, trisomy 13, trisomy 18, and triploid pregnancies were constructed and used to adjust prior risks for these abnormalities. A risk cutoff of ≥1% was chosen to define pregnancies at high risk for trisomy 13, trisomy 18, or triploidy (i.e., a high FFBR score). The model was evaluated on an independent blinded set of pregnancies for which SNP-based NIPT did not return a result, and for which retrospectively gathered pregnancy outcome information was available. RESULTS: The evaluation cohort comprised 1,148 cases, of which approximately half received a high FFBR score. Compared with incidence rates expected based on maternal age (MA) and gestational age (GA), cases with a high FFBR score had a significantly increased rate of trisomy 13, trisomy 18, or triploidy combined (5.7% vs. 0.7%; p<0.001) and of unexplained pregnancy loss (14.7% vs 10.4% p<0.001). For cases that did not receive a high FFBR score, the incidence of a chromosome abnormality or loss was not significantly different than that expected based on MA and GA. In the study cohort, the sensitivity of the FFBR model for detection of trisomy 13, trisomy 18, or triploidy was 91.4% (95% CI: 76.9-98.2) with a positive predictive value of 5.7% (32/564; 95% CI: 3.9-7.9). CONCLUSIONS: For pregnancies with a FF too low to receive a result on standard NIPT, the FFBR algorithm can identify a subset of cases at increased risk for trisomy 13, trisomy 18, or triploidy. For the remainder of cases, the risk for a fetal chromosome abnormality was unchanged."		* '''Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies'''{{#pmid:31249627\|PMID31249627}} "Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few studies have reported NIPT detection of rare fetal chromosome aneuploidies (RCAs). In this study, we evaluated the clinical practical performance of NIPT to analyze all 24 chromosome aneuploidies among 57,204 pregnancies in the Suzhou area of China. METHODS: This was a retrospective analysis of prospectively collected NIPT data from two next-generation sequencing (NGS) platforms (Illumina and Proton) obtained from The Affiliated Suzhou Hospital of Nanjing Medical University. NIPT results were validated by karyotyping or clinical follow-up. RESULTS: NIPT using the Illumina platform identified 586 positive cases; fetal karyotyping and follow-up results validated 178 T21 cases, 49 T18 cases, 4 T13 cases, and 52 SCAs. On the Proton platform, 270 cases were positive during NIPT. Follow-up confirmed 85 T21 cases, 17 T18 cases, 4 T13 cases, 28 SCAs, and 1 fetal chromosome 22 aneuploidy case as true positives. There were 5 false-negative results, including 4 T21 and 1 T18 cases. The NGS platforms showed similar sensitivities and positive predictive values (PPVs) in detecting T21, T18, T13 and SCAs (p > 0.01). However, the Proton platform showed better specificity in detecting 45, X and the Illumina platform had better specificity in detecting T13 (p < 0.01). The major factor contributing to NIPT false-positives on the Illumina platform was false SCAs cases (65.11%). Maternal chromosome aneuploidies, maternal cancers, and confined placental mosaicism caused discordant results between fetal karyotyping and NIPT. CONCLUSION: NIPT with NGS showed good performance for detecting T13, T18, and T21. The Proton platform had better performance for detecting SCAs, but the NIPT accuracy rate for detecting RCAs was insufficient."

			* '''Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomy 13, 18, and triploidy in women with low cell-free fetal DNA'''{{#pmid:30014528\|PMID30014528}} "To identify pregnancies at increased risk for {{trisomy 13}}, {{trisomy 18}}, and {{triploidy}} attributable to low fetal fraction (FF). METHODS: A FF-based risk (FFBR) model was built using data from >165,000 singleton pregnancies referred for SNP-based non-invasive prenatal testing (NIPT). Based on maternal weight and gestational age, FF distributions for normal, trisomy 13, trisomy 18, and triploid pregnancies were constructed and used to adjust prior risks for these abnormalities. A risk cutoff of ≥1% was chosen to define pregnancies at high risk for trisomy 13, trisomy 18, or triploidy (i.e., a high FFBR score). The model was evaluated on an independent blinded set of pregnancies for which SNP-based NIPT did not return a result, and for which retrospectively gathered pregnancy outcome information was available. RESULTS: The evaluation cohort comprised 1,148 cases, of which approximately half received a high FFBR score. Compared with incidence rates expected based on maternal age (MA) and gestational age (GA), cases with a high FFBR score had a significantly increased rate of trisomy 13, trisomy 18, or triploidy combined (5.7% vs. 0.7%; p<0.001) and of unexplained pregnancy loss (14.7% vs 10.4% p<0.001). For cases that did not receive a high FFBR score, the incidence of a chromosome abnormality or loss was not significantly different than that expected based on MA and GA. In the study cohort, the sensitivity of the FFBR model for detection of trisomy 13, trisomy 18, or triploidy was 91.4% (95% CI: 76.9-98.2) with a positive predictive value of 5.7% (32/564; 95% CI: 3.9-7.9). CONCLUSIONS: For pregnancies with a FF too low to receive a result on standard NIPT, the FFBR algorithm can identify a subset of cases at increased risk for trisomy 13, trisomy 18, or triploidy. For the remainder of cases, the risk for a fetal chromosome abnormality was unchanged."

	* '''Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal '''{{#pmid:27807286\|PMID27807286}} "We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. ...The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation."		* '''Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal '''{{#pmid:27807286\|PMID27807286}} "We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. ...The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation."
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}

	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Non-Invasive+Prenatal+Testing ''Non-Invasive Prenatal Testing'']		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Non-Invasive+Prenatal+Testing ''Non-Invasive Prenatal Testing''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Fetal+fraction-based+risk ''Fetal fraction-based risk'']

	~~<pubmed limit=5>Non-Invasive Prenatal Testing</pubmed>~~
	\|}		\|}

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	* '''Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into UK NHS maternity care'''{{#pmid:27378786\|PMID27378786}} "Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. All pregnant women with a current Down's syndrome risk on screening of at least 1/1000. NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. ...Implementation of NIPT as a contingent test within a public sector Down's syndrome screening programme can improve quality of care, choices for women, and overall performance within the current budget. As some women use NIPT for information only, the Down's syndrome live birth rate may not change significantly. Future research should consider NIPT uptake and informed decision making outside of a research setting." [[Trisomy 21]] \| [[United Kingdom Statistics]]		* '''Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into UK NHS maternity care'''{{#pmid:27378786\|PMID27378786}} "Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. All pregnant women with a current Down's syndrome risk on screening of at least 1/1000. NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. ...Implementation of NIPT as a contingent test within a public sector Down's syndrome screening programme can improve quality of care, choices for women, and overall performance within the current budget. As some women use NIPT for information only, the Down's syndrome live birth rate may not change significantly. Future research should consider NIPT uptake and informed decision making outside of a research setting." [[Trisomy 21]] \| [[United Kingdom Statistics]]

Z8600021 at 03:38, 23 July 2018

2018-07-23T03:38:54Z

← Older revision		Revision as of 13:38, 23 July 2018
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	* '''Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal '''{{#pmid:27807286\|PMID27807286}} "We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. ...The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation."		* '''Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal '''{{#pmid:27807286\|PMID27807286}} "We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. ...The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation."

	* '''Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into UK NHS maternity care'''{{#pmid:27378786\|PM ID27378786}} "Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. All pregnant women with a current Down's syndrome risk on screening of at least 1/1000. NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. ...Implementation of NIPT as a contingent test within a public sector Down's syndrome screening programme can improve quality of care, choices for women, and overall performance within the current budget. As some women use NIPT for information only, the Down's syndrome live birth rate may not change significantly. Future research should consider NIPT uptake and informed decision making outside of a research setting." [[Trisomy 21]] \| [[United Kingdom Statistics]]

	* '''Fetal aneuploidy screening with cell-free DNA in late gestation'''{{#pmid:27124739\|PMID27124739}} "The aim of this study was to evaluate clinical use of NIPT at gestational ages of 23 weeks and above. A cohort of 5579 clinical patients with singleton gestations of 23 weeks or greater submitting a blood sample for NIPT in an 18-month period were selected for this study. ...Of 5372 reported late-gestation samples, 151 (2.8%) were reported as aneuploidy detected or suspected. In late-gestation samples, the overall observed positive predictive value (PPV) for NIPT was 64.7%, with an observed PPV of 100% in the subset of cases with multiple clinical indications including abnormal ultrasound findings. NIPT is a highly accurate prenatal screening option for women after 23 weeks of gestation. Women who presented for NIPT in the latter stages of pregnancy more frequently specified clinical indications of abnormal ultrasound findings than women who entered screening earlier in pregnancy."
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			* '''Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into UK NHS maternity care'''{{#pmid:27378786\|PMID27378786}} "Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. All pregnant women with a current Down's syndrome risk on screening of at least 1/1000. NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. ...Implementation of NIPT as a contingent test within a public sector Down's syndrome screening programme can improve quality of care, choices for women, and overall performance within the current budget. As some women use NIPT for information only, the Down's syndrome live birth rate may not change significantly. Future research should consider NIPT uptake and informed decision making outside of a research setting." [[Trisomy 21]] \| [[United Kingdom Statistics]]

			* '''Fetal aneuploidy screening with cell-free DNA in late gestation'''{{#pmid:27124739\|PMID27124739}} "The aim of this study was to evaluate clinical use of NIPT at gestational ages of 23 weeks and above. A cohort of 5579 clinical patients with singleton gestations of 23 weeks or greater submitting a blood sample for NIPT in an 18-month period were selected for this study. ...Of 5372 reported late-gestation samples, 151 (2.8%) were reported as aneuploidy detected or suspected. In late-gestation samples, the overall observed positive predictive value (PPV) for NIPT was 64.7%, with an observed PPV of 100% in the subset of cases with multiple clinical indications including abnormal ultrasound findings. NIPT is a highly accurate prenatal screening option for women after 23 weeks of gestation. Women who presented for NIPT in the latter stages of pregnancy more frequently specified clinical indications of abnormal ultrasound findings than women who entered screening earlier in pregnancy."

	* '''Open source non-invasive prenatal testing platform and its performance in a public health laboratory'''{{#pmid:27027563\|PMID27027563}} "o introduce NIPT for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis. Plasma derived DNA from a total of 375 pregnant women (divided into 3 datasets) was whole-genome sequenced on the Ion Proton™ platform and analyzed using a pipeline based on WISECONDOR for fetal autosomal aneuploidy detection and SeqFF for fetal DNA fraction estimation. We furthermore validated a fetal sex determination analysis. The pipeline correctly detected 27/27 trisomy 21, 4/4 trisomy 18 and 3/3 trisomy 13 fetuses. Neither false negatives nor false positives (chromosomes 13, 18 and 21) were observed in our validation dataset. Fetal sex was identified correctly in all but one triploid fetus (172/173). SeqFF showed a strong correlation (R2 = 0.72) to Y-chromosomal content of the male fetus samples."		* '''Open source non-invasive prenatal testing platform and its performance in a public health laboratory'''{{#pmid:27027563\|PMID27027563}} "o introduce NIPT for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis. Plasma derived DNA from a total of 375 pregnant women (divided into 3 datasets) was whole-genome sequenced on the Ion Proton™ platform and analyzed using a pipeline based on WISECONDOR for fetal autosomal aneuploidy detection and SeqFF for fetal DNA fraction estimation. We furthermore validated a fetal sex determination analysis. The pipeline correctly detected 27/27 trisomy 21, 4/4 trisomy 18 and 3/3 trisomy 13 fetuses. Neither false negatives nor false positives (chromosomes 13, 18 and 21) were observed in our validation dataset. Fetal sex was identified correctly in all but one triploid fetus (172/173). SeqFF showed a strong correlation (R2 = 0.72) to Y-chromosomal content of the male fetus samples."

Z8600021 at 03:37, 23 July 2018

2018-07-23T03:37:43Z

Show changes

Z8600021 at 01:53, 6 November 2016

2016-11-06T01:53:10Z

← Older revision		Revision as of 11:53, 6 November 2016
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	{{Header}}{{Educational Warning}}		{{Header}}{{Educational Warning}}
	==Introduction==		==Introduction==
	[[File:Gestational age distribution NIPT.jpg\|thumb\|alt=graph Gestational ~~Age Distribution~~ at ~~Time~~ of ~~Non~~-invasive ~~Prenatal Testing~~\|Gestational ~~Age Distribution~~ at ~~Time~~ of ~~Non~~-invasive ~~Prenatal Testing~~<ref name=PMID25289665><pubmed>25289665</pubmed></ref>]]		[[File:Gestational age distribution NIPT.jpg\|thumb\|alt=graph Gestational age distribution at time of non-invasive prenatal testing\| Gestational age distribution at time of non-invasive prenatal testing (2014)<ref name=PMID25289665><pubmed>25289665</pubmed></ref>]]
	[[File:Chromosome-_trisomy.jpg\|thumb\|Trisomy 21 karyotype cartoon]]		[[File:Chromosome-_trisomy.jpg\|thumb\|Trisomy 21 karyotype cartoon]]
	Non-Invasive Prenatal Testing (NIPT) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.		Non-Invasive Prenatal Testing (NIPT) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.

Z8600021 at 01:52, 6 November 2016

2016-11-06T01:52:00Z

← Older revision		Revision as of 11:52, 6 November 2016
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	{{Header}}{{Educational Warning}}		{{Header}}{{Educational Warning}}
	==Introduction==		==Introduction==
			[[File:Gestational age distribution NIPT.jpg\|thumb\|alt=graph Gestational Age Distribution at Time of Non-invasive Prenatal Testing\|Gestational Age Distribution at Time of Non-invasive Prenatal Testing<ref name=PMID25289665><pubmed>25289665</pubmed></ref>]]
	[[File:Chromosome-_trisomy.jpg\|thumb\|Trisomy 21 karyotype cartoon]]		[[File:Chromosome-_trisomy.jpg\|thumb\|Trisomy 21 karyotype cartoon]]
	Non-Invasive Prenatal Testing (NIPT) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.		Non-Invasive Prenatal Testing (NIPT) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.

Z8600021 at 01:41, 6 November 2016

2016-11-06T01:41:50Z

← Older revision		Revision as of 11:41, 6 November 2016
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	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"
	! More recent papers		! More recent papers
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}