Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome

Narutchala Suwannakhon,Arunee Pingyod,Khajohnsilp Pongsawatkul,Khwanruedee Mahingsa,Wirawan Rasri,Teerapat Seeratanachot,Wanwipa Bumrungpakdee,Torpong Sanguansermsri

doi:10.4081/thal.2017.6620

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 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.

Highlights

Fetal DNA was isoc lated from the amniotic cells and characterized by quantitative real-time polymerase chain reaction (PCR) to detect n the a(0)-thalassemia mutation, which was o reconfirmed using the droplet digital PCR
The timing of prenatal diagnosis was success rate of the major thalassemia disease prevention strategy was less than 50%, despite the full support of the program
To enhance and improve the process of at-risk couple identification, a quantitative real-time PCR technique for the detection of a0-thalassemia (SEA and Thai deletion) carrier was applied to all pregnant women and their spouses

Summary

Introduction

In northern Thailand, the SEA type of a0-thalassemia deletion carrier can be detected in as much as 15% of the popula- The reported interpretation of data; NS, TS 1, TS 2, writing, University of Phayao, Phayao; 4Thalassemia Unit, University of ly Phayao, Phayao, Thailand on Abstract se We propose a fast-track strategy [direct blood DNA analysis using a quantitative u real-time polymerase chain reaction (PCR) l technique] for the early risk detection and ia prenatal diagnosis of a(0)-thalassemia c (SEA and Thai deletion). They were assessed using quantitative real-time PCR to detect m carriers of a(0)-thalassemia (SEA and Thai deletion).

Results

Conclusion