Non‐invasive prenatal testing for fetal inheritance of maternal <i>β</i>‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study

Xiong, Linfei; Barrett, AN; Hua, Rui; Ho, Ssy; Lü, Jun; Chan, K. C. Allen; Mei, Zuguo; Choolani, Mahesh

doi:10.1111/1471-0528.15045

Cited by 34 publications

(36 citation statements)

References 36 publications

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“…However, pregnancies with increased NT only are often reluctant to undergo further investigation after excluding the chromosomal abnormalities, unless major structural abnormalities are further indicated, which is also very rare. The Nowadays, the application of NIPS can include the detection of monogenic disorders such as skeletal dysplasia, 7 beta-thalassemia 6 and Duchenne muscular dystrophy. 8 However, there are only a few studies applying NIPS for concurrent detection of common autosomal dominant diseases in a group of high risk pregnancies with abnormal ultrasound findings.…”

Section: Clinical Utility Of Nips-mmentioning

confidence: 99%

“…3,4 Noninvasive prenatal sequencing (NIPS) for single gene related diseases such as β-thalassemia, achondroplasia, thanatophoric dysplasia, and Duchenne muscular dystrophy have also been implemented for clinical testing and research. [5][6][7][8] However, the locus-specific design and probanddependent analysis strategy prevented offering NIPS for concurrently detecting a range of monogenic disorders in the clinical practice.…”

Section: Introductionmentioning

confidence: 99%

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Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency

et al. 2020

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Objectives: To evaluate the performance of noninvasive prenatal sequencing for multiple Mendelian monogenic disorders (NIPS-M) among fetuses with skeletal abnormalities or increased nuchal translucency (NT). Methods: Pregnancies with fetal skeletal abnormalities or increased NT (≥3.0 mm) observed by ultrasonography were recruited between October 2017 and March 2019. Parental blood from 13 couples were collected for NIPS-M testing reported. All the NIPS-M results were followed up by invasive diagnostic testing or neonatal examination. Results: Among the 13 cases, 8 (61.5%) yielded positive results for pathogenic variants in the FGFR3, COL1A1, RAF1, PTPN11 and SOS1 genes by NIPS-M. One case was excluded for further analysis due to insufficient fetal DNA (<4.5%). De novo mutations were reported in six of the eight positive cases (75%). The other two were inconclusive as the pathogenic variants were detected in both plasma and genomic DNA of the mothers. The sensitivity of NIPS-M was 100%. Conclusions: Our pilot study demonstrates that NIPS-M is an accurate approach for detection of multiple monogenic disorders among fetuses with skeletal abnormalities or increased NT. It serves as an alternative and highly sensitive method to provide valuable molecular information for these groups of women who are reluctant to undergo invasive procedure.

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Section: Clinical Utility Of Nips-mmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency

et al. 2020

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“…The all affectability and explicitness for the discovery of fatherly transformations was 100% and 92.1%, individually. The strategy was not appropriate to 33% of the pregnancies when the couples conveyed a similar change (39).…”

Section: C)detection Of Maternally Inherited βThalassemia Mutationsmentioning

confidence: 99%

Non-invasive Prenatal Diagnosis of β-Thalassemia by Detection of the Cell-Free Fetal DNA in Maternal Circulation

Mahmoud

aboalwafa

Ali

et al. 2019

Sohag Medical Journal

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β-thalassemia is one of the most frequent autosomal recessive diseases that has a high recurrence in people of the Mediterranean zone, the Middle East, India, the Far East, Tropical Africa, and the Caribbean. Parents who are both carriers for β-thalassemia have a 25% danger to give a child with β-thalassemia major, a disorder that requires a longlasting blood transfusion and costly iron-chelation treatment. The most accessible strategies for pre-birth diagnosis are chorionic villus sampling (CVS) somewhere in the range of 11 and 14 weeks and amniocentesis following 15 weeks and both are invasive procedures and cause dangers to the fetus and mother, having a danger of abortion 1 in 100-200 and 1 in 200-400, respectively. The accuracy of these methods is estimated to be 98-99%. Cell-free fetal DNA (cff-DNA) can be found in maternal plasma following 18 days from fertilized egg implantation in Pregnancies after lab conception and resembles extracellular DNA. The discovery of cff-DNA in maternal plasma has led to the evolution of noninvasive prenatal diagnosis. Some genomic loci of cff-DNA show methylated sequences unique in relation to circling maternal DNA, this trademark can be utilized to evaluate and demonstrate the presence of fetal DNA during pregnancy, independent of the sex of the embryo. the two major limitations for non-invasive prenatal diagnosis (NIPND) are the small amount of cff-DNA in maternal blood and its coexistence with maternal free DNA.we study investigations used in the detection of inherited mutation of β-thalassemia in maternal plasma during pregnancy using cell-free fetal DNA and evaluate the diagnostic test performance of cff-DNA for this issue.157

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“…This either involves isolation of fetal cells (lymphoblasts, erythroblasts or trophoblasts) from maternal blood samples and undertaking DNA‐based techniques for mutation detection or cell‐free DNA analysis from maternal blood samples. The latter is already in widespread use for detection of aneuploidies (Herraiz et al , ) and has also recently been used to identify single gene defects, such as thalassaemias (Camunas‐Soler et al , ; Xiong et al , ).…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Antenatal screening for haemoglobinopathies: current status, barriers and ethics

Chakravorty

Dick

2019

Br J Haematol

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Sickle cell disease (SCD) and thalassaemia are genetic disorders that are caused by errors in the genes for haemoglobin and are some of the most common significant genetic disorders in the world, resulting in significant morbidity and mortality. Great disparities exist in the outcome of these conditions between resource-rich and resource-poor nations. Antenatal screening for these disorders aims to provide couples with information about their reproductive risk and enable them to make informed reproductive choices; ultimately reducing the likelihood of children being born with these conditions. This review provides an overview of the current status of antenatal, pre-marital and population screening of SCD and thalassaemia in countries with both high-and low prevalence of these conditions, methods of screening in use, and discusses some of the pitfalls, ethical issues and controversies surrounding antenatal screening. It also discusses outcomes of some screening programmes and recognises the need for the establishment of antenatal screening in areas where their prevalence is highest; namely sub-Saharan Africa and India.

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Non‐invasive prenatal testing for fetal inheritance of maternal β‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study

Abstract: NIPT for β-thalassaemia achieved using nested-PCR followed by relative mutation dosage.

Cited by 34 publications

References 36 publications

Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency

Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency

Non-invasive Prenatal Diagnosis of β-Thalassemia by Detection of the Cell-Free Fetal DNA in Maternal Circulation

Antenatal screening for haemoglobinopathies: current status, barriers and ethics

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