Non-invasive prenatal screening & diagnosis of ?-thalassaemia in an affected foetus

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dc.contributor.authorSuwannakhon, Narutchalaen_US
dc.contributor.authorHemvuthiphan, Jittapholen_US
dc.contributor.authorPangeson, Tanapaten_US
dc.contributor.authorMahingsa, Khwanruedeeen_US
dc.contributor.authorPingyod, Aruneeen_US
dc.contributor.authorBumrungpakdee, Wanwipaen_US
dc.contributor.authorSanguansermsri, Torpongen_US
dc.date.accessioned2023-08-19T04:51:50Z
dc.date.available2023-08-19T04:51:50Z
dc.date.issued2023-05
dc.description.abstractBackground & objectives: Non-invasive prenatal testing (NIPT) of maternally inherited alleles of ?-thalassaemia (MIB) remains to be a challenge. Furthermore, current techniques are not available for use as routine tests. NIPT for ?-thalassaemia disease was developed by using a specific droplet digital polymerase chain reaction (ddPCR) assay to analyze the cell-free foetal DNA (cffDNA) derived from maternal plasma. Methods: Pregnant women and their spouses who are at risk of bearing an offspring with ?-thalassaemia disease from common MIB mutations (CD 41/42-TCTT, CD17A>T, IVS1-1G>T and CD26G>A) were enrolled. The ddPCR assay sets were constructed for each of the four mutations. All cell-free DNA samples were first screened for the paternally inherited ?-thalassaemia (PIB) mutation. The PIB-negative samples were considered as non-disease and were not further analyzed. For PIB-positive samples, DNA fragments of 50-300 base pairs in size were isolated and purified, and further analyzed for MIB mutation. The allelic ratio between the mutant and the wild-type was used to determine the presence of MIB in cffDNA. All cases underwent a prenatal diagnosis by amniocentesis for a definite diagnosis. Results: Forty two couples at risk were enrolled. Twenty two samples were positive for PIBs. Among these 22 samples, there were 10 cases with allelic ratio >1.0 (MIB positive). All foetuses with over-represented mutant alleles were further diagnosed with ?-thalassaemia disease; eight with compound heterozygous and two with homozygous mutations. The 20 PIB-negative and 12 MIB-negative foetuses were non-affected. Interpretation & conclusions: The results of this study suggest that NIPT utilizing the ddPCR assay can be effectively used for the screening and diagnosis of foetal ?-thalassaemia in at risk pregnancies.en_US
dc.identifier.affiliationsDepartment of Biology, School of Science, University of Phayaoen_US
dc.identifier.affiliationsDivision of Obstetrics & Gynecology, Phayao Hospitalen_US
dc.identifier.affiliationsDepartment of Biochemistry, School of Medical Science, University of Phayaoen_US
dc.identifier.affiliationsThalassaemia Unit, University of Phayao Hospital, University of Phayao, Phayao, Thailanden_US
dc.identifier.citationSuwannakhon Narutchala, Hemvuthiphan Jittaphol, Pangeson Tanapat, Mahingsa Khwanruedee, Pingyod Arunee, Bumrungpakdee Wanwipa, Sanguansermsri Torpong. Non-invasive prenatal screening & diagnosis of ?-thalassaemia in an affected foetus. Indian Journal of Medical Research. 2023 May; 157(5): 447-452en_US
dc.identifier.issn0971-5916
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/223551
dc.languageenen_US
dc.publisherWolters Kluwer – Medknowen_US
dc.relation.issuenumber5en_US
dc.relation.volume157en_US
dc.source.urihttps://doi.org/10.4103/ijmr.IJMR_3226_20en_US
dc.subjectDroplet digital polymerase chain reaction assayen_US
dc.subjectnon-invasiveen_US
dc.subjectprenatal diagnosisen_US
dc.subject?-thalassaemiaen_US
dc.titleNon-invasive prenatal screening & diagnosis of ?-thalassaemia in an affected foetusen_US
dc.typeJournal Articleen_US
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