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001-es BibID:BIBFORM075082
035-os BibID:(WoS)000440930800011 (Scopus)85050504185
Első szerző:Koczok Katalin (labororvos)
Cím:Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing / Koczok Katalin, Gombos Éva, Madar László, Török Olga, Balogh István
Dátum:2018
ISSN:0197-3851
Megjegyzések:Objective: Fetal samples obtained by invasive techniques are prone to maternal cellcontamination (MCC), which may lead to false genotyping results. Our aim was todetermine 3 molecular genetic tests' sensitivity to MCC.Method: By mixing experiments, 1%, 5%, 10%, 20%, 30%, and 40% MCC was simulated,and significant MCC levels were determined for Sanger DNA sequencing, multiplexligation?dependent probe amplification (MLPA), and pyrosequencing, a nextgenerationsequencing method.Results: For Sanger sequencing, the limit of sensitivity to MCC was 5% to 30%. ForMLPA, a higher proportion of MCC (?40%) was shown to lead to diagnostic uncertainty.In contrast, pyrosequencing proved to be very sensitive to MCC, detecting aproportion as low as 1%.Conclusion: In the case of Sanger sequencing, sensitivity to MCC was variable,while for MLPA, only high levels of MCC proved to be significant. Although thenext?generation sequencing method was sensitive to low-level MCC, if MCC level isdetermined in parallel, accurate quantification of allelic ratios can help to interpretthe diagnostic results. Knowledge of significant MCC levels allows correct prenataldiagnosis even if samples are not purely of fetal origin and repeated sampling canbe avoided in many of the cases.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
anyai sejt kontamináció
Sanger DNS szekvenálás
multiplex ligáció-függő próbaamplifikáció
új generációs szekvenálás
Megjelenés:Prenatal Diagnosis. - 38 : 9 (2018), p. 713-719. -
További szerzők:Gombos Éva (1966-) (orvosdiagnosztikai laboratóriumi analitikus) Madar László (1972-) (klinikai laboratóriumi kutató) Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) Balogh István (1972-) (molekuláris biológus, genetikus)
Pályázati támogatás:K109076
OTKA
GINOP-2.3.2-15-2016-00039
GINOP
Internet cím:Szerző által megadott URL
DOI
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001-es BibID:BIBFORM113080
035-os BibID:(WOS)000928960000001 (Scopus)85147505425
Első szerző:Steffensen, Ellen Hollands
Cím:Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study / Ellen Hollands Steffensen, Anne Skakkebæk, Kasper Gadsbøll, Olav Bjørn Petersen, Thomas Westover, Heather Strange, The NIPT-SCA-map Study Group, Ida Vogel
Dátum:2023
ISSN:0197-3851
Megjegyzések:Objective To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the general implementation of NIPT. Method A questionnaire addressing the research objectives was distributed by email to fetal medicine and clinical genetics experts in Asia, Australia, Europe and the USA. Results Guidelines on NIPT are available in the majority of the included countries. Not all existing guidelines address reporting of fetal chromosomal sex and SCAs. In most settings, NIPT frequently includes sex chromosomes (five Australian states, China, Hong Kong, Israel, Singapore, Thailand, USA and 23 of 31 European countries). This occurs most often by default or when parents wish to know fetal sex. In most settings, a potential SCA is reported by stating the risk hereof as "low" or "high" and/or by naming the SCA. Less than 50% of all pregnant women receive NIPT according to respondents from three Australian states, China, Israel, Singapore, Thailand and 24 of 31 European countries. However, this percentage, the genomic coverage of NIPT and its application as primary or secondary screening vary by setting. Conclusion In most of the studied countries/states, NIPT commonly includes sex chromosomes. The reporting practices concerning fetal chromosomal sex and SCAs are diverse and most commonly not addressed by guidelines. In general, NIPT is variably implemented across countries/states.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Prenatal Diagnosis. - 43 : 2 (2023), p. 144-155. -
További szerzők:Skakkebæk, Anne Gadsbøll, Kasper Petersen, Olav Bjørn Westover, Thomas Strange, Heather Vogel, Ida Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) The NIPT-SCA-map Study Group
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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