- Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
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Cho IA, Park JK, Baek JC, Ha AN, Kang MY, Lee JI, Park JE, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY
- KMID: 2149856
- J Genet Med.
- 2015 Dec;12(2):123-127.
- doi: 10.5734/JGM.2015.12.2.123
Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of... -
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- Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
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Han SH, Yang YH, Ryu JS, Kim YJ, Lee KR
- KMID: 2149853
- J Genet Med.
- 2015 Dec;12(2):100-108.
- doi: 10.5734/JGM.2015.12.2.100
PURPOSE: Conventional methods for the prenatal detection of fetal RhD status involve invasive procedures such as fetal blood sampling and amniocentesis. The identification of cell-free fetal DNA (cffDNA) in maternal... -
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- Advantages of the single nucleotide polymorphism-based noninvasive prenatal test
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Kim K
- KMID: 2149847
- J Genet Med.
- 2015 Dec;12(2):66-71.
- doi: 10.5734/JGM.2015.12.2.66
Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated... -
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- Whole genome sequencing based noninvasive prenatal test
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Cho EH
- KMID: 2149846
- J Genet Med.
- 2015 Dec;12(2):61-65.
- doi: 10.5734/JGM.2015.12.2.61
Whole genome sequencing (WGS)-based noninvasive prenatal test (NIPT) is the first method applied in the clinical setting out of various NIPT techniques. Several companies, such as Sequenom, BGI, and Illumina... -
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- Evaluating the results of the Momguard noninvasive prenatal test
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Hu HJ, Kwon YJ, Oh M, Kim J, Cho DY, Seo DH
- KMID: 2149852
- J Genet Med.
- 2015 Dec;12(2):96-99.
- doi: 10.5734/JGM.2015.12.2.96
PURPOSE: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. MATERIALS AND METHODS: This preliminary study is... -
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- Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing
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Hong HD, Kim E, Nam SH, Yoo DH, Suh BC, Choi BO, Chung KW
- KMID: 2149854
- J Genet Med.
- 2015 Dec;12(2):109-117.
- doi: 10.5734/JGM.2015.12.2.109
PURPOSE: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations... -
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- Application of digital polymerase chain reaction technology for noninvasive prenatal test
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Lee SY, Hwang SY
- KMID: 2149848
- J Genet Med.
- 2015 Dec;12(2):72-78.
- doi: 10.5734/JGM.2015.12.2.72
Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy. The principle of NIPT lies in isolating the fetal fraction of cell-free DNA... -
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- Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
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Kim JH, Lee GH, Cha DH, Cho EH, Jung YW
- KMID: 2149855
- J Genet Med.
- 2015 Dec;12(2):118-122.
- doi: 10.5734/JGM.2015.12.2.118
Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and... -
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- Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination: Clinical laboratory improvement amendments-certified noninvasive prenatal test
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Kim MJ, Kwon CH, Kim DI, Im HS, Park S, Kim JH, Bae JS, Lee M, Lee MS
- KMID: 2149849
- J Genet Med.
- 2015 Dec;12(2):79-84.
- doi: 10.5734/JGM.2015.12.2.79
PURPOSE: We developed and validated a fetal trisomy detection method for use as a noninvasive prenatal test (NIPT) including a Clinical Laboratory Improvement Amendments (CLIA)-certified bioinformatics pipeline on a cloud-based... -
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- Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea
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Han SH, Yang YH, Ryu JS, Kang MS, Kim YJ, Lee KR
- KMID: 2149850
- J Genet Med.
- 2015 Dec;12(2):85-91.
- doi: 10.5734/JGM.2015.12.2.85
PURPOSE: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing... -
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- Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery
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Jeong SO, Han YJ, Lee SW, Kwak DW, Chung JH, Ahn HK, Choi JS, Han JY, Kim MY, Park SY, Ryu HM, Kim MH
- KMID: 2149851
- J Genet Med.
- 2015 Dec;12(2):92-95.
- doi: 10.5734/JGM.2015.12.2.92
PURPOSE: Increased maternal age is a major risk factor for chromosomal abnormalities. The maternal age-specific risk of fetal trisomy was theoretically calculated. We investigated the actual frequency of fetal trisomy... -
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