Noninvasive prenatal diagnosis experience in the Çukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and β‐thalassemia in cell‐free fetal DNA using high‐resolution melting analysis

Yenilmez, Ebru Dündar; Tuli, Abdullah; Evrüke, İsmail Cüneyt

doi:10.1002/pd.4196

Cited by 23 publications

(25 citation statements)

References 25 publications

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“…HRM‐PCR has been evaluated already in the prenatal determination of several monogenic diseases. Yenilmez et al . successfully detected paternally inherited fetal mutations responsible for β‐thalassemia.…”

Section: Discussionmentioning

confidence: 99%

“…HRM-PCR has been evaluated already in the prenatal determination of several monogenic diseases. Yenilmez et al 17 successfully detected paternally inherited fetal mutations responsible for β-thalassemia. All results were consistent with the genotypes obtained using conventional techniques, while HRM-PCR reduced the time needed from 3 days to 1 day.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Optimal non‐invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell‐free fetal DNA analysis

Vivanti

Costa

Rosefort

et al. 2018

Ultrasound in Obstet & Gyne

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Optimal non‐invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell‐free fetal DNA analysis

Vivanti

Costa

Rosefort

et al. 2018

Ultrasound in Obstet & Gyne

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“…The use of a blocking LNA probe could, however, be essential for the detection of fetal mutations in case of low fetal fraction or for the detection of more challenging mutations. In the study of Yenilmez et al, 22 HR-MCA without a blocking LNA probe was performed and was not successful in case of early gestation. Levels of cffDNA may differ extensively between individuals and have been described to increase as 621 622 623 624 625 626 627 628 629 630 631 632 633 634 635 636 637 638 639 640 641 642 643 644 645 646 647 648 649 650 651 652 653 654 655 656 657 658 659 660 661 662 663 664 665 666 667 668 669 670 671 672 673 674 675 676 677 678 679 680 681 682 683 684 685 686 687 688 689 690 691 692 693 694 695 696 697 698 699 700 701 702 703 704 705 706 7...…”

Section: Detection Of Paternally Inherited Mutations In Maternal Plasmentioning

confidence: 94%

“…21 HR-MCA has previously been proposed as a useful method for NIPD. 16,22,23 In these studies, no blocking LNA probe was used. The use of a blocking LNA probe could, however, be essential for the detection of fetal mutations in case of low fetal fraction or for the detection of more challenging mutations.…”

Section: Detection Of Paternally Inherited Mutations In Maternal Plasmentioning

confidence: 99%

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma

Oever

Minderhout

Harteveld

et al. 2015

The Journal of Molecular Diagnostics

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The challenge in noninvasive prenatal diagnosis for monogenic disorders lies in the detection of low levels of fetal variants in the excess of maternal cell-free plasma DNA. Next-generation sequencing, which is the main method used for noninvasive prenatal testing and diagnosis, can overcome this challenge. However, this method may not be accessible to all genetic laboratories. Moreover, shotgun next-generation sequencing as, for instance, currently applied for noninvasive fetal trisomy screening may not be suitable for the detection of inherited mutations. We have developed a sensitive, mutation-specific, and fast alternative for next-generation sequencing-mediated noninvasive prenatal diagnosis using a PCR-based method. For this proof-of-principle study, noninvasive fetal paternally inherited mutation detection was performed using cell-free DNA from maternal plasma. Preferential amplification of the paternally inherited allele was accomplished through a personalized approach using a blocking probe against maternal sequences in a high-resolution melting curve analysis-based assay. Enhanced detection of the fetal paternally inherited mutation was obtained for both an autosomal dominant and a recessive monogenic disorder by blocking the amplification of maternal sequences in maternal plasma.

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“…Four papers and one abstract of a paper to which the quality assessment scale could be applied were used in the final data extraction stage. These manuscripts were studies by Cheung et al, (1996) [23]. The papers were scored as low, medium or high quality according to the QUADAS-II assessment table, and out of 8* according to the Newcastle-Ottawa Quality Assessment Scale, by their relevance to the answers of questions under three subheadings:…”

Section: Quality Assessmentmentioning

confidence: 99%

A Systematic Review and Meta-Analysis of Non-Invasive Prenatal Diagnosis (NIPD) of Sickle Cell Disease (SCD)

Short¹,

Baah

Oteng‐Ntim

2018

G.J. Hematol. Blood Trans.

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Introduction: Sickle cell disease (SCD) is a genetically inherited, recessive mutation of the haemoglobin βSgene. Each year, over 300,000 babies are born with SCD, which will have a significant impact on their quality of life and average life expectancy. Currently, for SCD to be tested prenatally, foetal DNA is extracted by amniocentesis, chorionic villus sampling or cordocentesis, and then analysed by polymerase chain reaction (PCR), for instance. These procedures increase the risk of foetal miscarriage by less than 0.5%. SCD may, however, be tested non-invasively using cell-free foetal DNA (cffDNA), which is extracted from maternal blood plasma. In this study, the current accuracy of using cffDNA testing for non-invasive prenatal diagnosis (NIPD) of SCD will be shown.Methods: Using databases such as PubMed, Web of Science and Scopus, this study systematically reviewed existing studies pertaining to the use of cffDNA maternal blood samples for non-invasive prenatal testing (NIPT) or diagnosis (NIPD) for SCD in patients who were at risk of having a baby with SCD. The data collected from the systematic review of the studies was statistically analysed in the form of a meta-analysis, describing the proportion of correct diagnosis results for this method of prenatal testing.Results: Of over 3,600 papers identified from the database searches, only five studies contained data pertaining to the use of cffDNA for prenatal testing of SCD and conformed to the inclusion criteria set out by this study. Collectively, these data showed an average of 81.30% accuracy of diagnosis when using cffDNA to test for SCD, with 18.70% of foetuses incorrectly diagnosed. These data were compiled as a Forest Plot meta-analysis.Conclusion: CffDNA for non-invasive prenatal SCD diagnosis appears to have the potential to be an accurate technique for the testing of this genetic disease, despite not currently indicating a proportion of correct diagnosis results which would encourage the technique for clinical implementation. Whilst there are currently very limited data on the use of this technique for the specific testing of SCD, there is great opportunity for further research into the standardisation and clinical application of this procedure.

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Noninvasive prenatal diagnosis experience in the Çukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and β‐thalassemia in cell‐free fetal DNA using high‐resolution melting analysis

Abstract: High-resolution melting is a useful method for NIPD of β-thalassemias by detecting paternal mutations in the maternal plasma. Cell-free fetal DNA quantification and MoM values were not informative for HbS or β-thalassemias in early pregnancy.

Cited by 23 publications

References 25 publications

Optimal non‐invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell‐free fetal DNA analysis

Optimal non‐invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell‐free fetal DNA analysis

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma

A Systematic Review and Meta-Analysis of Non-Invasive Prenatal Diagnosis (NIPD) of Sickle Cell Disease (SCD)

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