Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique

Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique

We propose using a modified amplification refractory mutation system real-time polymerase chain reaction (ARMS RTPCR) technique to exclude the invasive prenatal diagnosis for a non-paternally inherited beta thalassemia mutation in couples atrisk for having a baby with CHBT. The ARMS RT-PCR method w...

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Main Authors: Narutchala Suwannakhon, Tanapat Pangeson, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri
Format: Article
Language:English
Published: PAGEPress Publications 2019-09-01
Series:Hematology Reports
Subjects:
NIPST
ARMS RT-PCR
Maternal cell-free fetal DNA
Paternally inherited beta thalassemia mutation
Online Access:https://www.pagepress.org/journals/index.php/hr/article/view/8124
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spelling doaj-463bcc8535774717a2d3c21ee1e278ba2020-11-25T03:19:39ZengPAGEPress PublicationsHematology Reports2038-83222038-83302019-09-0111310.4081/hr.2019.8124Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction techniqueNarutchala Suwannakhon0Tanapat Pangeson1Teerapat Seeratanachot2Khwanruedee Mahingsa3Arunee Pingyod4Wanwipa Bumrungpakdee5Torpong Sanguansermsri6Discipline of Biology, School of ScienceDiscipline of Biochemistry, School of Medical ScienceDiscipline of Biochemistry, School of Medical ScienceThalassemia Unit, University of PhayaoThalassemia Unit, University of PhayaoThalassemia Unit, University of PhayaoThalassemia Unit, University of Phayao We propose using a modified amplification refractory mutation system real-time polymerase chain reaction (ARMS RTPCR) technique to exclude the invasive prenatal diagnosis for a non-paternally inherited beta thalassemia mutation in couples atrisk for having a baby with CHBT. The ARMS RT-PCR method was performed for 36 at-risk couples by using isolated fetal cell-free DNA from maternal plasma. The modified ARMS RT-PCR primers targeted one of the following paternally inherited beta thalassemia mutation: -28 A→G, CD17 A→T, CD 26 G→A, IVS1-1 G→T and CD 41-42 -CTTT. The method could be successfully employed for NIPST starting with the 7th week of gestation. The results showed that 19 pregnant women were negative for PIBTM (53%). After an on-track and on-time of one year, including postnatal thalassemia blood tests, none of the babies showed symptoms or signs of beta thalassemia disease. We concluded that the modified ARMS RT-PCR method was an accurate, cost-effective and feasible method for use as a NIPST for at-risk couples with the potential of having a baby with CHBT. https://www.pagepress.org/journals/index.php/hr/article/view/8124NIPSTARMS RT-PCRMaternal cell-free fetal DNAPaternally inherited beta thalassemia mutation
collection DOAJ
language English
format Article
sources DOAJ
author Narutchala Suwannakhon
Tanapat Pangeson
Teerapat Seeratanachot
Khwanruedee Mahingsa
Arunee Pingyod
Wanwipa Bumrungpakdee
Torpong Sanguansermsri
spellingShingle Narutchala Suwannakhon
Tanapat Pangeson
Teerapat Seeratanachot
Khwanruedee Mahingsa
Arunee Pingyod
Wanwipa Bumrungpakdee
Torpong Sanguansermsri
Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique
Hematology Reports
NIPST
ARMS RT-PCR
Maternal cell-free fetal DNA
Paternally inherited beta thalassemia mutation
author_facet Narutchala Suwannakhon
Tanapat Pangeson
Teerapat Seeratanachot
Khwanruedee Mahingsa
Arunee Pingyod
Wanwipa Bumrungpakdee
Torpong Sanguansermsri
author_sort Narutchala Suwannakhon
title Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique
title_short Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique
title_full Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique
title_fullStr Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique
title_full_unstemmed Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique
title_sort noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique
publisher PAGEPress Publications
series Hematology Reports
issn 2038-8322
2038-8330
publishDate 2019-09-01
description We propose using a modified amplification refractory mutation system real-time polymerase chain reaction (ARMS RTPCR) technique to exclude the invasive prenatal diagnosis for a non-paternally inherited beta thalassemia mutation in couples atrisk for having a baby with CHBT. The ARMS RT-PCR method was performed for 36 at-risk couples by using isolated fetal cell-free DNA from maternal plasma. The modified ARMS RT-PCR primers targeted one of the following paternally inherited beta thalassemia mutation: -28 A→G, CD17 A→T, CD 26 G→A, IVS1-1 G→T and CD 41-42 -CTTT. The method could be successfully employed for NIPST starting with the 7th week of gestation. The results showed that 19 pregnant women were negative for PIBTM (53%). After an on-track and on-time of one year, including postnatal thalassemia blood tests, none of the babies showed symptoms or signs of beta thalassemia disease. We concluded that the modified ARMS RT-PCR method was an accurate, cost-effective and feasible method for use as a NIPST for at-risk couples with the potential of having a baby with CHBT.
topic NIPST
ARMS RT-PCR
Maternal cell-free fetal DNA
Paternally inherited beta thalassemia mutation
url https://www.pagepress.org/journals/index.php/hr/article/view/8124
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AT tanapatpangeson noninvasiveprenatalscreeningtestforcompoundheterozygousbetathalassemiausinganamplificationrefractorymutationsystemrealtimepolymerasechainreactiontechnique
AT teerapatseeratanachot noninvasiveprenatalscreeningtestforcompoundheterozygousbetathalassemiausinganamplificationrefractorymutationsystemrealtimepolymerasechainreactiontechnique
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