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Article

Noninvasive Prenatal Screening Test for Compound Heterozygous Beta Thalassemia Using an Amplification Refractory Mutation System Real-Time Polymerase Chain Reaction Technique

1
Discipline of Biology, School of Science, University of Phayao, Phayao 56000, Thailand
2
Discipline of Biochemistry, School of Medical Science, University of Phayao, Phayao 56000, Thailand
3
Thalassemia Unit, University of Phayao, Phayao 56000, Thailand
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2019, 11(3), 8124; https://doi.org/10.4081/hr.2019.8124
Submission received: 27 March 2019 / Revised: 16 June 2019 / Accepted: 5 July 2019 / Published: 18 September 2019

Abstract

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.
Keywords: NIPST; ARMS RT-PCR; maternal cell-free fetal DNA; paternally inherited beta thalassemia mutation NIPST; ARMS RT-PCR; maternal cell-free fetal DNA; paternally inherited beta thalassemia mutation

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MDPI and ACS Style

Suwannakhon, N.; Pangeson, T.; Seeratanachot, T.; Mahingsa, K.; Pingyod, A.; Bumrungpakdee, W.; Sanguansermsri, T. Noninvasive Prenatal Screening Test for Compound Heterozygous Beta Thalassemia Using an Amplification Refractory Mutation System Real-Time Polymerase Chain Reaction Technique. Hematol. Rep. 2019, 11, 8124. https://doi.org/10.4081/hr.2019.8124

AMA Style

Suwannakhon N, Pangeson T, Seeratanachot T, Mahingsa K, Pingyod A, Bumrungpakdee W, Sanguansermsri T. Noninvasive Prenatal Screening Test for Compound Heterozygous Beta Thalassemia Using an Amplification Refractory Mutation System Real-Time Polymerase Chain Reaction Technique. Hematology Reports. 2019; 11(3):8124. https://doi.org/10.4081/hr.2019.8124

Chicago/Turabian Style

Suwannakhon, Narutchala, Tanapat Pangeson, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, and Torpong Sanguansermsri. 2019. "Noninvasive Prenatal Screening Test for Compound Heterozygous Beta Thalassemia Using an Amplification Refractory Mutation System Real-Time Polymerase Chain Reaction Technique" Hematology Reports 11, no. 3: 8124. https://doi.org/10.4081/hr.2019.8124

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