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Keywords = prevention of Hb Bart’s hydrops fetalis syndrome

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Article
Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome
by Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Wirawan Rasri, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee and Torpong Sanguansermsri
Thalass. Rep. 2017, 7(1), 6620; https://doi.org/10.4081/thal.2017.6620 - 2 Oct 2017
Viewed by 958
Abstract
We propose a fast-track strategy [direct blood DNA analysis using a quantitative real-time polymerase chain reaction (PCR) technique] for the early risk detection and prenatal diagnosis of α(0)-thalassemia (SEA and Thai deletion). Blood DNA samples were obtained from a volunteer group of 1235 [...] Read more.
We propose a fast-track strategy [direct blood DNA analysis using a quantitative real-time polymerase chain reaction (PCR) technique] for the early risk detection and prenatal diagnosis of α(0)-thalassemia (SEA and Thai deletion). Blood DNA samples were obtained from a volunteer group of 1235 ANC couples. They were assessed using quantitative real-time PCR to detect carriers of α(0)-thalassemia (SEA and Thai deletion). At-risk couples were identified, and further prenatal diagnosis by amniocentesis was implemented. Fetal DNA was isolated from the amniotic cells and characterized by quantitative real-time PCR to detect the α(0)-thalassemia mutation, which was reconfirmed using the droplet digital PCR method. Fifteen at-risk couples were identified. The timing of prenatal diagnosis was appropriate for all couples and four of the fetuses were diagnosed with Bart’s hydrops fetalis. The results were compatible with those calculated using the Hardy-Weinberg equation for a recessively inherited single gene disorder. The conclusion was that the fast-track strategy could shorten screening policy timelines, promoting early risk detection for couples and early prenatal diagnosis. The fast-track strategy might be beneficial for the prevention of hemoglobin Bart’s hydrops fetalis syndrome.
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