Microsatellite Markers within —SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis

Ho, S.; Chong, Samuel S.; Koay, Evelyn Siew Chuan; Chan, Yiong Huak; Ponnusamy, Sukumar; Chiu, Lily-Lily; Wang, Wen; Roy, A.C.; Rauff, Mary; Su, Lin; Biswas, Arijit; Choolani, Mahesh

doi:10.1373/clinchem.2006.075085

Cited by 17 publications

(19 citation statements)

References 36 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: 86%

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: 86%

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

et al. 2018

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“…The objective of noninvasive prenatal diagnosis in at-risk patients with double-gene deletions is to avoid invasive testing where the foetus is likely to be normal or heterozygote. We have previously described highly polymorphic microsatellite markers located within the deleted regions of SEA, THAI and FIL (Ho et al, 2007). We hypothesized that in cases where the foetus inherits the normal paternal allele, the undeleted paternally inherited fetal allele can be detected in the maternal plasma.…”

Section: Introductionmentioning

confidence: 99%

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

Chong

Koay

et al. 2009

Prenatal Diagnosis

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“…Unlike other sophisticated methods using fluorescence-based PCR amplification of microsatellite markers [33], this combined PCR assay requires neither additional equipment nor additional complexity. The procedure is cheaper, more practical and directly applicable in most PCR laboratories, possibly facilitating a prevention/control program for this severe thalassemia in the region.…”

Section: Discussionmentioning

confidence: 99%

Accurate Prenatal Diagnosis of Hb Bart’s Hydrops Fetalis in Daily Practice with a Double-Check PCR System

Karnpean

Fucharoen

et al. 2009

Acta Haematol

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Hemoglobin (Hb) Bart’s hydrops fetalis is a fatal condition associated with homozygous α⁰-thalassemia. Prenatal diagnosis of the disease is usually done by gap-PCR; however, misdiagnosis can occur with allelic dropout. Diagnosis using more than one method is preferred. We describe a double-check PCR assay for accurate prenatal diagnosis. The study was conducted on 64 fetuses at risk of homozygous α⁰-thalassemia encountered at our routine thalassemia diagnosis laboratory. Chorionic villus sample (CVS), amniotic fluid or fetal blood specimens were obtained from pregnant women at risk and analyzed by two PCR methods. In the first method, the SEA α⁰-thalassemia deletion of parents and fetuses were determined by gap-PCR routinely run in our laboratory. In another method, two specific fragments located 5′ to the ζ₂ gene (XbaI fragment) and the α₂-globin gene (RsaI fragment) together with the gap-PCR fragment were multiply co-amplified to determine the presence or absence of normal and α⁰-thalassemia alleles. The molecular diagnosis of α⁰-thalassemia was possible in all 64 fetuses using the two PCR approaches. The final diagnoses included 13 normal, 29 unaffected heterozygote and 22 homozygote α⁰-thalassemia fetuses.The two PCR assays disclosed no discordant result in the diagnosis of the Hb Bart’s hydrops fetalis caused by α⁰-thalassemia.The combined PCR assay for gap-PCR, ζ₂ XbaI and α₂ RsaI fragments, described here, is simple, accurate and applicable in the prenatal diagnosis of Hb Bart’s hydrops fetalis in a routine setting.

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Microsatellite Markers within —SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis

Cited by 17 publications

References 36 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

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

Accurate Prenatal Diagnosis of Hb Bart’s Hydrops Fetalis in Daily Practice with a Double-Check PCR System

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