| Title |
Invasive prenatal diagnosis of α-thalassemia to control Hb Bart’s hydrops fetalis syndrome: 15 years of experience
|
|---|---|
| Published in |
Archives of Gynecology and Obstetrics, June 2018
|
| DOI | 10.1007/s00404-018-4807-4 |
| Pubmed ID | |
| Authors |
Ketong Lai, Shuquan Li, Weixiong Lin, Dezhai Yang, Wenqiang Chen, Minqing Li, Lihong Pang, Ping Chen |
| Abstract |
The aim of the present study was to report experiences with invasive prenatal diagnosis of α-thalassemia for the prevention of Hb Bart's hydrops fetalis syndrome in the Guangxi Zhuang Autonomous Region, China. Pregnant women and their partners who tested positive for α0-thalassemia or were diagnosed with HbH diseases were counseled and suggested to undergo a prenatal diagnostic procedure for α-thalassemia. Fetal material was obtained by chorionic villus sampling (CVS) between 9 and 13 weeks of gestation, by amniocentesis between 16 and 24 weeks of gestation and by cordocentesis after 24 weeks of gestation. The α0-thalassemia gene types were detected by gap polymerase chain reaction (Gap-PCR). All results were finally confirmed by DNA analysis after delivery or termination of pregnancy. An invasive prenatal α-thalassemia diagnosis was performed in 3155 cases at risk for Hb Bart's hydrops fetalis syndrome at our hospital from 2002 to 2016. CVS was performed in 1559 cases (49.4%), amniocentesis in 1240 cases (39.3%) and cordocentesis in 356 cases (11.3%). In total, 786 fetuses were diagnosed as Hb Bart's hydrops fetalis syndrome. Among these cases, the α-thalassemia genotype was --SEA/--SEA in 784 cases and --SEA/--THAI in 2 cases. All affected pregnancies were terminated in time. This extensive experience suggests that carrier screening, molecular diagnostics, genetic counselling, and prenatal diagnosis are effective measures to prevent Hb Bart's hydrops fetalis syndrome. |
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 2 | 13% |
| Student > Postgraduate | 2 | 13% |
| Unspecified | 1 | 7% |
| Professor | 1 | 7% |
| Other | 1 | 7% |
| Other | 2 | 13% |
| Unknown | 6 | 40% |
| Readers by discipline | Count | As % |
|---|---|---|
| Nursing and Health Professions | 2 | 13% |
| Medicine and Dentistry | 2 | 13% |
| Unspecified | 1 | 7% |
| Agricultural and Biological Sciences | 1 | 7% |
| Biochemistry, Genetics and Molecular Biology | 1 | 7% |
| Other | 2 | 13% |
| Unknown | 6 | 40% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 June 2018.
All research outputs
#21,164,509
of 23,815,455 outputs
Outputs from Archives of Gynecology and Obstetrics
#1,537
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Outputs of similar age
#290,564
of 330,357 outputs
Outputs of similar age from Archives of Gynecology and Obstetrics
#21
of 29 outputs
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