Related Experiment Video
Updated: Apr 22, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Prenatal control of Hb Bart's disease in mainland China: can we do better?
1Department of Obstetrics and Gynecology, Guangzhou Women & Children Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China and.
Insights
Timely prenatal diagnosis of Hemoglobin Bart
Area of Science:
- Obstetrics and Gynecology
- Medical Genetics
- Public Health
Background:
- Hemoglobin Bart's (Hb Bart's) disease is a severe form of alpha-thalassemia.
- Prenatal diagnosis is crucial for managing Hb Bart's disease.
- Effective prenatal care strategies are essential for early detection and intervention.
Purpose of the Study:
- To review the 3-year experience with prenatal control of Hb Bart's disease in Mainland China.
- To analyze clinical characteristics and timeliness of prenatal diagnosis.
- To identify factors contributing to delayed diagnosis and associated complications.
Main Methods:
- Retrospective review of 246 pregnancies with fetal Hb Bart's disease from January 2011 to December 2013.
- Analysis of maternal reproductive history, prenatal care, gestational age at booking and diagnosis.
- Assessment of pregnancy complications in relation to timing of prenatal diagnosis.
Main Results:
- 246 cases of fetal Hb Bart's disease identified.
- 177 (72.0%) diagnosed early (≤24 weeks), 69 (28.0%) diagnosed late (>24 weeks).
- 87.0% of late-diagnosis cases had late or no prenatal care, with higher rates of obstetrical complications.
Conclusions:
- Delayed prenatal diagnosis of Hb Bart's disease limits informed decision-making for couples.
- Urgent need for targeted strategies to improve timeliness of prenatal care and diagnosis.
- Enhancing prenatal care accessibility is critical for better pregnancy outcomes.
Abstract:
The aim of the present study was to report a 3-year experience on the prenatal control of Hb Bart's (γ4) disease in Mainland China. All pregnancies with fetal Hb Bart's disease were included from January 2011 to December 2013. The main clinical characteristics of the affected pregnancies were reviewed, including maternal reproductive history, prenatal care in the current pregnancy, the gestation of pregnancy at the time of booking, the gestation at the time of prenatal diagnosis (PND), and the complications associated with the pregnancy. A total of 246 cases of fetal Hb Bart's disease were identified during the study period; among these, 177 (72.0%) were diagnosed in early gestation (≤24 weeks), and 69 (28.0%) in late gestation. Most (87.0%) of the patients presenting in late pregnancy had late or no prenatal care. Twenty (29.0%) had major obstetrical complications in patients presenting in late pregnancy, and five (5.0%) in patients presenting in relatively early pregnancy. The delay in PND deprived couples of opportunities to make informed decisions early in pregnancy. Efforts for designing and targeting strategies to improve the timeliness of prenatal care are urgently needed.
