Early Prenatal Diagnosis of Thalassemia: The First Report of Experience in Mainland China

Liao, Can; Pan, Min; Han, Jin Hee; Yang, Xin; Li, Jian; Li, Ru; Li, Dong-Zhi

doi:10.3109/03630269.2011.571330

Cited by 4 publications

(1 citation statement)

References 13 publications

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“…If both parents are positive, they will be tested further for αand β-thal. A pregnancy with both partners being carriers of the same type of thalassemia is considered to be a risk, and genetic counseling services and prenatal diagnoses are offered (17). Alternately, successful pre implantation genetic diagnosis (PGD) for αand β-thal has been performed in Mainland China since 2005 (18).…”

Section: Diagnosis Proceduresmentioning

confidence: 99%

The Current Status of β-Thalassemia Major in Mainland China

Fang

2013

Hemoglobin

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β-Thalassemia (β-thal) is caused by a decrease in the production of β-globin chains that is a genetic disorder worldwide. The diagnosis of β-thal major (β-TM) depends on clinical manifestations, laboratory investigations, family history and genetic analysis. Patients with β-TM require long-term blood transfusion and chelation therapy. Hematopoietic stem cell transplantation is the only strategy for curing this disease. Many patients with β-TM cannot get regular diagnosis and treatment in developing countries. With economic improvement and medical technology development, a great progress has been made in Mainland China. In this study, we describe the current status of diagnosis and treatment of β-thal in Mainland China.

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Section: Diagnosis Proceduresmentioning

confidence: 99%

The Current Status of β-Thalassemia Major in Mainland China

Fang

2013

Hemoglobin

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Chorionic villus sampling for early prenatal diagnosis: Experience at a mainland Chinese hospital

Han

Pan

et al. 2014

Journal of Obstetrics and Gynaecology

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The aim of this study was to describe the experience of transabdominal chorionic villus sampling (CVS) at a mainland Chinese hospital. During a 7-year period, 1,172 pregnant women chose to have CVS for prenatal diagnosis. Details and outcome of all of these cases were reviewed. The median maternal age was 29 years (range 19-45). The median gestational age was 12 weeks (range 10-14). Fetal karyotyping and thalassaemia couples were the main indications (97.2%). Overall, 112 (9.7%) chromosomal abnormalities were identified. There were 91 (7.8%) major chromosomal abnormalities, including autosomal trisomy in 70 patients, sex chromosomal abnormalities in 17, triploidy in two and unbalanced chromosomal rearrangement abnormality in two. Additionally, 137 fetuses with severe thalassaemia syndrome were found, including 86 homozygous β-thalassaemia, and 51 homozygous α-thalassaemia or non-deletional haemoglobin H disease. The procedure failed to obtain an adequate sample in four (0.3%) patients. There were 229 pregnancies terminated for medical indications after CVS. There were three (0.3%) potentially procedure-related fetal losses. CVS is a safe and reliable prenatal diagnostic technique. It should be one of the options available to pregnant women who require prenatal diagnosis.

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Prenatal Control of Hb Bart’s Disease in Mainland China: Can We Do Better?

Yang

et al. 2014

Hemoglobin

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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.

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Early Prenatal Diagnosis of Thalassemia: The First Report of Experience in Mainland China

Cited by 4 publications

References 13 publications

The Current Status of β-Thalassemia Major in Mainland China

The Current Status of β-Thalassemia Major in Mainland China

Chorionic villus sampling for early prenatal diagnosis: Experience at a mainland Chinese hospital

Prenatal Control of Hb Bart’s Disease in Mainland China: Can We Do Better?

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