Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program

Abstract

In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), – –^SEA and – –^THAI deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1.07%) were identified, including 68 (0.16%) for β-thal, 162 (0.39%) for Hb Bart’s (γ4) hydrops fetalis, 190 (0.46%) for deletional Hb H (β4) disease and 25 (0.06%) for nondeletional Hb H disease. Of the 455 at-risk couples, 90 were already pregnant and 66 underwent PND at 10-13 weeks’ gestation, resulting in 15 affected fetuses. The remaining 355 at-risk couples were still preparing for pregnancy, and they were on the list for follow-up. There is considerable scope for facilitating timely PND through improved organization and screening strategy. The pre pregnancy screening is a feasible and effective approach to thalassemia prevention.

Keywords:

• Mainland China
• pre gestational screening
• prenatal diagnosis (PND)

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by grants from the NSFC (National Natural Science Foundation of China) [81571448] and the Guangdong Provincial Department of Science and Technology Agency [2016A020215218].