J.Gras Aneuploidy 2011
•Download as PPT, PDF•
0 likes•416 views
This study compared the performance of three molecular methods - MLPA, MAQ, and BoBs - for detecting chromosomal abnormalities in prenatal diagnosis using amniotic fluid and chorionic villus samples. BoBs produced no uninterpretable results and fully concordant results with the reference FISH method. BoBs was the most sensitive in detecting chromosomal mosaics and the only method that could detect microdeletion syndromes. The researchers concluded that BoBs provided the best performance out of the three methods for prenatal aneuploidy detection and microdeletion diagnosis.
Report
Share
Report
Share
![COMPARISON OF 3 MOLECULAR METHODS TO DETECT ANEUPLOIDIES IN PRENATAL DIAGNOSIS Jeremie Gras*, Nathalie Lannoy, Xavier Pepermans, Marie Ravoet, Marianne Philippe Center for Human Genetics, UCL SaintLuc University, Brussels (*Now at Clinique SaintLuc Bouge) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Examples of results 47,XY,+18 using MLPA 47,XX,+21 using MAQ 47,XX,+21 using BoBs 3. Results: comparison with FISH Legend: Not. Int: result that could not be interpreted Sample µ : insufficient sample [DNA] µ: insufficient DNA concentration ,[object Object],[object Object],[object Object],[object Object],[object Object],5. Sensitivity for mosaic detection +21 mosaic study using BoBs % of abnormal cells detected T21 – 50 % T21 – 40 % T21 – 30 % T21 – 20 % ,[object Object],[object Object],[object Object],[object Object],[object Object],BoBs, Di George BoBs, Williams Beurens ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Contact: [email_address] Luminex Genescan Genescan Separation of amplified products Yes NO NO CE Marking Yes NO NO Detection of micro deletions Yes Yes NO Triploid analysis +13, +18, +21 Aneusomies X,Y +13, +18, +21 Aneusomies X,Y +13, +18, +21 Aneusomies X,Y Aneuploidies detected PerkinElmer Multiplicon MRC-Holland Manufacturer Bacs-on-Beads MAQ assay MLPA Normal 46,XY 46,XY 46,XY AF 10 Normal 46,XY 46,XY 46,XY AF 9 Normal 46,XY 46,XY 46,XY AF 8 Normal 46,XX 46,XX 46,XX AF 7 Normal 46,XY sample µ 46,XY AF 5 Normal 46,XX 46,XX 46,XX AF 4 Normal 46,XX 46,XX 46,XX AF 3 Normal 46,XY 46,XY 46,XY AF 2 FISH BoBs MAQ MLPA Normal 46,XY [ADN] µ [ADN] µ AF 20 Normal 46,XX Not int. 46,XX AF 19 +21 47,XY,+21 47,XY,+21 Not int. AF 18 Normal 46,XX 46,XX 46,XX AF 17 XXY 47,XXY 47,XXY 47,XXY AF 16 Normal 46,XY 46,XY 46,XY AF 15 Normal 46,XY 46,XY 46,XY AF 14 Normal 46,XY 46,XY 46,XY AF 13 Normal 46,XX 46,XX 46,XX AF 12 Normal 46,XX sample µ 46,XX AF 11 FISH BoBs MAQ MLPA Normal 46,XX 46,XX 46,XX AF 29 Normal 46,XX Not int. 46,XX AF 28 Normal 46,XY 46,XY 46,XY AF 27 Normal 46,XY 46,XY 46,XY AF 26 Normal sample µ sample µ 46,XX AF 25 Normal 46,XY Not int. 46,XY AF 24 Normal 46,XY 46,XY 46,XY AF 23 Normal 46,XY 46,XY 46,XY AF 22 Normal 46,XX 46,XX 46,XX AF 21 FISH BoBs MAQ MLPA Normal 46,XX 46,XX 46,XX AF 36 Normal 46,XY 46,XY 46,XY AF 35 Normal 46,XY 46,XY 46,XY AF 34 FISH BoBs MAQ MLPA Normal 46,XX 46,XX 46,XX CVS 10 47,XX,+21 47,XX,+21 47,XX,+21 Not. Int. CVS 9 Normal 46,XY 46,XY 46,XY CVS 8 Normal 46,XY 46,XY 46,XY CVS 7 Normal 46,XY 46,XY 46,XY CVS 6 Normal 46,XY 46,XY 46,XY CVS 5 47,XX,+21 47,XX,+21 47,XX,+21 47,XX,+21 CVS 4 45,XO 45,XO 45,XO 45,XO CVS 3 Normal 46,XX Not. Int. 46,XX CVS 2 47,XY, +18 47,XY, +18 Not. Int. 47,XX,+18 CVS 1 FISH BoBs MAQ MLPA Normal 46,XY 46,XY 46,XY CVS 17 Normal 46,XY 46,XY Not. Int. CVS 16 47,XX,+21 47,XX,+21 47,XX,+21 47,XX,+21 CVS 15 Normal 46,XX 46,XX 46,XX CVS 14 47,XY,+18 47,XX,+18 47,XX,+18 47,XX,+18 CVS 13 47,XY,+18 47,XY,+18 47,XY,+18 47,XY,+18 CVS 12 47,XX,+21 47,XX,+21 47,XX,+21 47,XX,+21 CVS 11 FISH BoBs MAQ MLPA 30 % 30 % 40 % XXY mosaic 30 % 50% at the limit 50 % not detected XXX mosaic 30 % 40 % 50 % not detected XO mosaic 30 % 30 % 30 % XYY mosaic 30 % 50 % 50 % not detected +18 mosaic 20 % 50 % 50 % not detected +21 mosaic BoBs MAQ MLPA](https://image.slidesharecdn.com/postergntiquea0-13074650738042-phpapp01-110607114532-phpapp01/85/J-Gras-Aneuploidy-2011-1-320.jpg)
Recommended
KRIBIOLISA Drug Monitoring ELISA Ranibizumab
Kribiolisa ELISA kits for drug monitoring of therapeutic drugs like Adalimumab, Trastuzumab, Atezolizumab, Eculizumab, Ranibizumab. Sensitive assays for drug monitoring and immunogenicity. CE marked.
Recommended
KRIBIOLISA Drug Monitoring ELISA Ranibizumab
Kribiolisa ELISA kits for drug monitoring of therapeutic drugs like Adalimumab, Trastuzumab, Atezolizumab, Eculizumab, Ranibizumab. Sensitive assays for drug monitoring and immunogenicity. CE marked.
Molecular testing techniques in cytology specimens
Molecular testing techniques in cytology specimens (FNAC, Body fluids, exfoliate cytology)
Munne et al ASRM 2009 Abstract O6
presentation on the validation studies of array CGH validation for its use in PGD for the detection of ALL chromosome aneuploidies.
Munne Array Cgh Update 2010 05
Update on Preimplantation Genetic Diagnosis for all chromosome aneuplodies, translocations and gene defects.
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
Learn about existing and emerging methods to accelerate biosafety testing of biologic therapies.
Speed to market for biologic therapeutics is ever more critical. However, the critical safety tests for these molecules, for example screening for adventitious agents such as viral contaminants, can be time consuming as well as challenging and laborious. Join us for this webinar as we explore how rapid methodologies are being used to not only accelerate this process, but also enhance quality by reducing testing complexity. Existing technologies as well as emerging trends will be discussed, along with the implications these may have on the regulatory landscape.
In this webinar you will learn:
● Which existing and emerging technologies are having now, and will have in the future, an impact on biosaftey testing.
● The benefits as well as risks of employing rapid methods for biosafety screening.
● How the regulatory agencies are reacting to rapid testing methods as alternatives to existing methods.
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
Learn about existing and emerging methods to accelerate biosafety testing of biologic therapies.
Speed to market for biologic therapeutics is ever more critical. However, the critical safety tests for these molecules, for example screening for adventitious agents such as viral contaminants, can be time consuming as well as challenging and laborious. Join us for this webinar as we explore how rapid methodologies are being used to not only accelerate this process, but also enhance quality by reducing testing complexity. Existing technologies as well as emerging trends will be discussed, along with the implications these may have on the regulatory landscape.
In this webinar you will learn:
● Which existing and emerging technologies are having now, and will have in the future, an impact on biosaftey testing.
● The benefits as well as risks of employing rapid methods for biosafety screening.
● How the regulatory agencies are reacting to rapid testing methods as alternatives to existing methods.
20150918 - F. Malvestiti - Chromosomal microarray in prenatal diagnosis
Francesca MALVESTITI, Ph.D., ErCLG
Citogenetica Molecolare, TOMA Advanced Biomedical Assays, S.p.A.
fmalvestiti@tomalab.com
Present an historical overview of the modern molecular cytogenetics
Present the principal assays to detect submicroscopic copy number variations (CNV) on fetal samples
Describe pros and cons of targeted vs genome-wide methods
Present additional yield for pCNV by microarray analysis in anatomically normal and abnormal fetuses with normal karyotype
More Related Content
Similar to J.Gras Aneuploidy 2011
Molecular testing techniques in cytology specimens
Molecular testing techniques in cytology specimens (FNAC, Body fluids, exfoliate cytology)
Munne et al ASRM 2009 Abstract O6
presentation on the validation studies of array CGH validation for its use in PGD for the detection of ALL chromosome aneuploidies.
Munne Array Cgh Update 2010 05
Update on Preimplantation Genetic Diagnosis for all chromosome aneuplodies, translocations and gene defects.
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
Learn about existing and emerging methods to accelerate biosafety testing of biologic therapies.
Speed to market for biologic therapeutics is ever more critical. However, the critical safety tests for these molecules, for example screening for adventitious agents such as viral contaminants, can be time consuming as well as challenging and laborious. Join us for this webinar as we explore how rapid methodologies are being used to not only accelerate this process, but also enhance quality by reducing testing complexity. Existing technologies as well as emerging trends will be discussed, along with the implications these may have on the regulatory landscape.
In this webinar you will learn:
● Which existing and emerging technologies are having now, and will have in the future, an impact on biosaftey testing.
● The benefits as well as risks of employing rapid methods for biosafety screening.
● How the regulatory agencies are reacting to rapid testing methods as alternatives to existing methods.
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
Learn about existing and emerging methods to accelerate biosafety testing of biologic therapies.
Speed to market for biologic therapeutics is ever more critical. However, the critical safety tests for these molecules, for example screening for adventitious agents such as viral contaminants, can be time consuming as well as challenging and laborious. Join us for this webinar as we explore how rapid methodologies are being used to not only accelerate this process, but also enhance quality by reducing testing complexity. Existing technologies as well as emerging trends will be discussed, along with the implications these may have on the regulatory landscape.
In this webinar you will learn:
● Which existing and emerging technologies are having now, and will have in the future, an impact on biosaftey testing.
● The benefits as well as risks of employing rapid methods for biosafety screening.
● How the regulatory agencies are reacting to rapid testing methods as alternatives to existing methods.
20150918 - F. Malvestiti - Chromosomal microarray in prenatal diagnosis
Francesca MALVESTITI, Ph.D., ErCLG
Citogenetica Molecolare, TOMA Advanced Biomedical Assays, S.p.A.
fmalvestiti@tomalab.com
Present an historical overview of the modern molecular cytogenetics
Present the principal assays to detect submicroscopic copy number variations (CNV) on fetal samples
Describe pros and cons of targeted vs genome-wide methods
Present additional yield for pCNV by microarray analysis in anatomically normal and abnormal fetuses with normal karyotype
Similar to J.Gras Aneuploidy 2011 (20)
Molecular testing techniques in cytology specimens
Molecular testing techniques in cytology specimens
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
Rapid Methodologies for Biosafety Testing of Biologic Therapeutics
20150918 - F. Malvestiti - Chromosomal microarray in prenatal diagnosis
20150918 - F. Malvestiti - Chromosomal microarray in prenatal diagnosis
MULTIPROBE FLUORESENCE IN SITU HYBRIDISATION For Detection Of.pptx
MULTIPROBE FLUORESENCE IN SITU HYBRIDISATION For Detection Of.pptx