Carrier screening for ?- and ?-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal hospital

Liao, Can; Mo, Qiu-Hua; Li, Jian; Li, Liyan; Huang, Yining; Hua, Liang; Li, Qiuming; Zhang, Jizeng; Feng, Qiong; Zeng, Rong; Zhong, Huizhu; Jia, Shiqi; Cui, Yong Yi; Xu, Xiang

doi:10.1002/pd.1079

Cited by 64 publications

(47 citation statements)

References 30 publications

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“…61 Another antenatal screening programme has been conducted in Guangdong, China, for 11 years. 54 Over 95% of the carrier couples identified underwent prenatal diagnosis and only one child with b-thalassaemia has been born, because of a misdiagnosis during prenatal diagnosis. 54 All of the affected foetuses detected in the screening programme were terminated.…”

Section: Mandatory Screeningmentioning

confidence: 99%

“…In many countries, a large majority of the affected foetuses detected are terminated. 27,30,[53][54][55][56] The incidence of b-thalassaemia has decreased significantly after the introduction of screening programmes. The voluntary carrier screening programme, which began in Sardinia, Italy, in 1975 reduced the incidence of b-thalassaemia from 1:250 to 1:4000 in 1995.…”

Section: Mandatory Screeningmentioning

confidence: 99%

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Carrier screening for Beta-thalassaemia: a review of international practice

et al. 2010

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b-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. b-thalassaemia carrier screening programmes provide a unique opportunity to compare the delivery of carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of b-thalassaemia carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which genetic carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted.

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Section: Mandatory Screeningmentioning

confidence: 99%

Section: Mandatory Screeningmentioning

confidence: 99%

Carrier screening for Beta-thalassaemia: a review of international practice

et al. 2010

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“…On the other hand, children with β-thalassemia major usually require life-long blood transfusion for normal growth and development. A prospective prenatal diagnosis program has been carried out to prevent thalassemia at our hospital since 1993 3 . During this period, we encountered two cases in which the pregnant women were referred to prenatal diagnosis for β-thalassemia; however, the fetuses were found to be suffering from homozygous α-thalassemia.…”

Section: Two Cases Of Homozygous α 0 -Thalassemia Diagnosed Prenatallmentioning

confidence: 99%

“…Since the first reported case in 1978 1 , several case reports and case series have been published 2,3 . Primary surgical treatment has been attempted by laparotomy and hysterotomy, with various degrees of success 4 .…”

Section: Ectopic Pregnancy Within a Cesarean Section Scarmentioning

confidence: 99%

“…Primary surgical treatment has been attempted by laparotomy and hysterotomy, with various degrees of success 4 . Medical treatment with systemic methotrexate (MTX) 5,6 , direct injection of MTX, potassium chloride or hyperosmolar glucose 3,7 , or a combination of treatments, have been described 2 . The combination of MTX and uterine artery embolization 8 and laparoscopic excision, followed by hysteroscopy to assess scar integrity 9 , has been reported.…”

Section: Ectopic Pregnancy Within a Cesarean Section Scarmentioning

confidence: 99%

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Two cases of homozygous α⁰‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China

Liao

Xie

2007

Ultrasound in Obstet & Gyne

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A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies

et al. 2013

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Accurate genotyping is important for genetic testing. Sanger sequencing-based typing is the gold standard for genotyping, but it has been underused, due to its high cost and low throughput. In contrast, short-read sequencing provides inexpensive and high-throughput sequencing, holding great promise for reaching the goal of cost-effective and high-throughput genotyping. However, the short-read length and the paucity of appropriate genotyping methods, pose a major challenge. Here, we present RCHSBT-reliable, cost-effective and high-throughput sequence based typing pipeline-which takes short sequence reads as input, but uses a unique variant calling, haploid sequence assembling algorithm, can accurately genotype with greater effective length per amplicon than even Sanger sequencing reads. The RCHSBT method was tested for the human MHC loci HLA-A, HLA-B, HLA-C, HLA-DQB1, and HLA-DRB1, upon 96 samples using Illumina PE 150 reads. Amplicons as long as 950 bp were readily genotyped, achieving 100% typing concordance between RCHSBT-called genotypes and genotypes previously called by Sanger sequence. Genotyping throughput was increased over 10 times, and cost was reduced over five times, for RCHSBT as compared with Sanger sequence genotyping. We thus demonstrate RCHSBT to be a genotyping method comparable to Sanger sequencing-based typing in quality, while being more cost-effective, and higher throughput.

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Carrier screening for ?- and ?-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal hospital

Abstract: Our hospital-based program proved to be highly effective in reducing severe thals in pregnant populations.

Cited by 64 publications

References 30 publications

Carrier screening for Beta-thalassaemia: a review of international practice

Carrier screening for Beta-thalassaemia: a review of international practice

Two cases of homozygous α⁰‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China

A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies

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Carrier screening for ?- and ?-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal hospital

Abstract: Our hospital-based program proved to be highly effective in reducing severe thals in pregnant populations.

Cited by 64 publications

References 30 publications

Carrier screening for Beta-thalassaemia: a review of international practice

Carrier screening for Beta-thalassaemia: a review of international practice

Two cases of homozygous α0‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China

A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies

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Resources

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Two cases of homozygous α⁰‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China