Additional file 1 of Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong
Creators: name: Chung, Claudia
name: Chan, Kelvin
name: Hui, Pui
name: Au, Patrick
name: Tam, Wai
name: Li, Samuel
name: Leung, Gordon
name: Fung, Jasmine
name: Chan, Marcus
name: Luk, Ho
name: Annisa Mak
name: Kwok Leung
name: Tang, Mary
name: Chung, Brian
name: Kan, Anita
Publisher: name: figshare
Year: 2020
Subjects: subject: Biophysics
subject: Space Science
subject: Medicine
subject: Genetics
subject: FOS: Biological sciences
subject: FOS: Biological sciences
subject: Molecular Biology
subject: 59999 Environmental Sciences not elsewhere classified
subject: FOS: Earth and related environmental sciences
subject: FOS: Earth and related environmental sciences
subject: 69999 Biological Sciences not elsewhere classified
subject: Science Policy
subject: Hematology
subject: 110309 Infectious Diseases
subject: FOS: Health sciences
subject: FOS: Health sciences
subject: 60506 Virology

description: Additional file 1: Figure S1a Primary analysis: detailed workflow of the proposed algorithm. Rapid aneuploidy detection by QF-PCR will be performed on DNA extracted from the uncultured prenatal samples for all participants who consent for the study, while backup cell culture will also set-up. For those with normal QF-PCR results, they would proceed to aCGH testing. Karyotyping would be performed on backup cell culture for those with abnormal aCGH results (pathogenic or VUS) (indicated by the dotted line arrow), or abnormal (trisomy 13/18/21, monosomy X or triploidy) or inconclusive QF-PCR results. For those with inconclusive QF-PCR results and subsequent normal karyotyping results, aCGH would be performed. If maternal cell contamination could not be excluded by QF-PCR, aCGH would be carried out on cultured cells instead. Laboratory report of the corresponding testing would be issued at each point as indicated in the flowchart. Further confirmatory tests such as fluorescence in-situ hybridization (FISH), multiplex-ligation dependent probe amplification (MLPA), PCR, or parental karyotyping/aCGH, would be considered when aCGH showed abnormal results after discussion with the referring obstetrician. aCGH: array comparative genomic hybridization; CNV: copy number variation; CVS: chorionic villous sampling; FISH: fluorescence in-situ hybridization; MLPA: multiplex-ligation dependent probe amplification; QF-PCR: quantitative fluorescent polymerase chain reaction. *Samples with inconclusive QF-PCR results and subsequent normal karyotyping results will proceed to aCGH on cultured cells. Figure S1b Primary analysis: detailed workflow of the current algorithm. *QF-PCR is not commonly offered free of charge for patients with primary indication of DS screening positive / family history of chromosomal or genetic disorders. However, for patients who are willing to pay for self-financed aCGH, the laboratory will first perform QF-PCR for common aneuploidies detection. If QF-PCR results abnormal, aCGH will not be proceeded. ** Samples with inconclusive QFPCR results and subsequent normal karyotyping results will proceed to aCGH if patient is willing to pay for self-financed aCGH. aCGH: array comparative genomic hybridization; CNV: copy number variation; CVS: chorionic villous sampling; DS: Down syndrome; FISH: fluorescence in-situ hybridization; MLPA: multiplex-ligation dependent probe amplification; NT: nuchal translucency; QF-PCR: quantitative fluorescent polymerase chain reaction.