Noninvasive prenatal exclusion of haemoglobin Bart's using foetal DNA from maternal plasma

Ho, S.; Chong, Samuel S.; Koay, Evelyn Siew Chuan; Ponnusamy, Sukumar; Chiu, Lily; Chan, Yiong Huak; Rauff, Mary; Baig, Sonia; Chan, Jerry; Su, Lin; Biswas, Arijit; Hahn, Sinuhe; Choolani, Mahesh

doi:10.1002/pd.2413

Cited by 24 publications

(20 citation statements)

References 28 publications

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“…Our results showed that indirect testing based on fluorescent multiplex PCR can be safely used for NIPD, reaching sensitivity and specificity similar to those seen in previous studies [10,21,23,24]. However, this test is less informative than the SNP-haplotype-based approach by next-generation sequencing [25][26][27][28][29].…”

Section: Discussionsupporting

confidence: 67%

“…Each peak in the stutter lacks one core repeat unit relative to the main peak. When the paternal amplicon size is directly adjacent to the maternal amplicon size, it may be very difficult to distinguish the signals [18,21,22]. The feasibility of using this NIPD protocol for each couple depends on the availability of family members (of offspring or relative gDNA) for determining the haplotypes linked to mutant or normal alleles in the family.…”

Section: Discussionmentioning

confidence: 99%

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A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

et al. 2018

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Background: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF). Methods: The test, based on haplotyping, includes nine intra- and extragenic short tandem repeats of the CFTR locus, the coamplification of p.Phe508del (the most frequent mutation in CF patients worldwide), and a specific SRY sequence. The assay is able to determine the inherited paternal allele. Results: Our simple approach was successfully applied to 30 couples and provided clear results from the maternal plasma. The mean rate of informative markers was sufficient to propose it for use in indirect diagnosis. Conclusions: This noninvasive prenatal diagnosis test, focused on indirect diagnosis of CF, offers many advantages over current methods: it is simple, rapid, and cost-effective. It allows for the testing of a large number of couples with high risk of CF, whatever the familial mutation of the CFTR gene. It provides an alternative method to reduce the number of invasive tests.

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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

et al. 2018

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“…One investigation failed to reliably diagnose Hemoglobin Bart's using real-time quantitative PCR [112]. Another investigation utilized qualitative fluorescence PCR to exclude Hemoglobin Bart's in 10/30 pregnancies, via detection of nondeleted paternally inherited fetal alleles [113]. …”

Section: Clinical Applicationsmentioning

confidence: 99%

Tracking fetal development through molecular analysis of maternal biofluids

Edlow

Bianchi

2012

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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Current monitoring of fetal development includes fetal ultrasonography, chorionic villus sampling or amniocentesis for chromosome analysis, and maternal serum biochemical screening for analytes associated with aneuploidy and open neural tube defects. Over the last 15 years, significant advances in noninvasive prenatal diagnosis (NIPD) via cell-free fetal (cff) nucleic acids in maternal plasma have resulted in the ability to determine fetal sex, RhD genotype, and aneuploidy. Cff nucleic acids in the maternal circulation originate primarily from the placenta. This contrasts with cff nucleic acids in amniotic fluid, which derive from the fetus, and are present in significantly higher concentrations than in maternal blood. The fetal origin of cff nucleic acids in the amniotic fluid permits the acquisition of real-time information about fetal development and gene expression. This review seeks to provide a comprehensive summary of the molecular analysis of cff nucleic acids in maternal biofluids to elucidate mechanisms of fetal development, physiology, and pathology. This article is part of a Special Issue entitled: Molecular Genetics of Human Reproductive Failure.

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“…Recent studies have reported non-invasive prenatal diagnosis (NIPD) by genetic analysis of free fetal DNA isolated from maternal plasma 24 25. This avoids the increased risk of miscarriage26 associated with conventional invasive prenatal testing but, without NGS, the application is largely limited to screening for specific variants inherited from the father or arising de novo in the fetus, as discrimination of fetal and maternal alleles and aneuploidy detection are extremely challenging.…”

Section: Diagnosismentioning

confidence: 99%

Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist

Ware

Roberts

Cook

2011

Heart

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The fast moving field of genomic medicine is already impacting on clinical care and cardiologists are fortunate to be in a position to benefit early from the transformative advances in genomics. However, the challenges associated with genomics in the clinic in general, and with next generation sequencing technologies in particular, are significant and cardiologists need to be prepared if they wish to surf the wave of genomic opportunity. This paper presents an overview of the implications of next generation sequencing for clinical diagnostics and personalised medicine in the cardiology clinic.

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Noninvasive prenatal exclusion of haemoglobin Bart's using foetal DNA from maternal plasma

Abstract: We show proof-of-principle that such a test can accurately exclude HbBart's in the foetus by identifying the nondeleted paternally inherited fetal alleles in maternal plasma in one out of three pregnancies, avoiding invasive testing in these pregnancies.

Cited by 24 publications

References 28 publications

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

Tracking fetal development through molecular analysis of maternal biofluids

Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist

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