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Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report

Cho IA, Park JK, Baek JC, Ha AN, Kang MY, Lee JI, Park JE, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY

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 prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

Kim JH, Lee GH, Cha DH, Cho EH, Jung YW

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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Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing

Hong HD, Kim E, Nam SH, Yoo DH, Suh BC, Choi BO, Chung KW

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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Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea

Han SH, Yang YH, Ryu JS, Kim YJ, Lee KR

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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Evaluating the results of the Momguard noninvasive prenatal test

Hu HJ, Kwon YJ, Oh M, Kim J, Cho DY, Seo DH

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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Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery

Jeong SO, Han YJ, Lee SW, Kwak DW, Chung JH, Ahn HK, Choi JS, Han JY, Kim MY, Park SY, Ryu HM, Kim MH

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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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

Han SH, Yang YH, Ryu JS, Kang MS, Kim YJ, Lee KR

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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Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination: Clinical laboratory improvement amendments-certified noninvasive prenatal test

Kim MJ, Kwon CH, Kim DI, Im HS, Park S, Kim JH, Bae JS, Lee M, Lee MS

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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Application of digital polymerase chain reaction technology for noninvasive prenatal test

Lee SY, Hwang SY

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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Advantages of the single nucleotide polymorphism-based noninvasive prenatal test

Kim K

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

Cho EH

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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