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Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile

Kwak DW, Boo H, Chang EH, Ryu HM, Han YJ, Chung JH, Kim MY, Yang EJ, Yoo HJ, Kim JW

OBJECTIVE: To evaluate the prevalence and distribution of chromosomal defects in Korean fetuses with nuchal translucency (NT) above the 99th percentile and to analyze them according to the degree of...
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Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience

Lee DE, Kim H, Park J, Yun T, Park DY, Kim M, Ryu HM

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility...
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Effects of paternal age on human embryo development in in vitro fertilization with preimplantation genetic screening

Kim MK, Park JK, Jeon Y, Seok SH, Chang EM, Lee WS

OBJECTIVE: As paternal age increases, the quality of sperm decreases due to increased DNA fragmentation and aneuploidy. Higher levels of structural chromosomal aberrations in the gametes ultimately decrease both the...
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Embryonal Carcinoma of the Pineal Gland Developed in an Adolescent Boy with Klinefelter Syndrome

Choi HJ, Kim EA, Lee JM, Jang KM, Choi JH

Klinefelter syndrome (KS) is characterized by small testes, gynecomastia, tall stature, and hypergonadotropic hypogonadism. This condition is associated with extra X chromosomes. It is well known that these aneuploidies predispose...
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Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age

Kim SM, Kim HH, Han YJ, Choi JS, Ryu HM, Yang S, Kim MH

OBJECTIVE: In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women be offered screening or diagnostic tests for chromosomal abnormalities regardless of their age. Noninvasive...
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Clinical significance of sonographic soft markers: A review

Kim MS, Kang S, Cho HY

Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no...
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Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience

Jung HA, Jang MA, Kim K, Kim SH

BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional...
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Clinical assessment of the male fertility

Khatun A, Rahman MS, Pang MG

The evaluation of infertility in males consists of physical examination and semen analyses. Standardized semen analyses depend on the descriptive analysis of sperm motility, morphology, and concentration, with a threshold...
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Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA

Kim SH, Kim KW, Han YJ, Lee SM, Lee MY, Shim JY, Cho GJ, Lee JH, Oh SY, Kwon HS, Cha DH, Ryu HM

PURPOSE: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for...
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Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

Shim SH, Cha DH

Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal...
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Knowledge and Information Need for Prenatal Genetic Screening and Diagnosis and Attitude toward Terminating Pregnancy among Pregnant Women in South Korea

Jun M, Shin G, Kim HK

PURPOSE: This study identifies correlations among information needs and knowledge about prenatal genetic screening and diagnosis (I-PGSD & K-PGSD), and attitude toward terminating pregnancy (ATP) among pregnant women in South...
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What is the Meaning of Anaphase-Promoting Complex 7 in Malignant Neoplasms?

Chang WY

No abstract available.
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Antitumor Effect of KX-01 through Inhibiting Src Family Kinases and Mitosis

Kim S, Min A, Lee KH, Yang Y, Kim TY, Lim JM, Park SJ, Nam HJ, Kim JE, Song SH, Han SW, Oh DY, Kim JH, Kim TY, Hangauer D, Lau JY, Im K, Lee DS, Bang YJ, Im SA

PURPOSE: KX-01 is a novel dual inhibitor of Src and tubulin. Unlike previous Src inhibitors that failed to show clinical benefit during treatment of breast cancer, KX-01 can potentially overcome...
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Prenatal diagnosis of aberrant right subclavian artery in an unselected population

Song MJ, Han BH, Kim YH, Yoon SY, Lee YM, Jeon HS, Park BK

PURPOSE: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other...
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Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
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Circulating Aneuploid Cells Detected in the Blood of Patients with Infectious Lung Diseases

Kim H, Cho JH, Sonn CH, Kim JW, Choi Y, Lee J, Kim J

The identification of circulating tumor cells (CTCs) is clinically important for diagnosing cancer. We have previously developed a size-based filtration platform followed by epithelial cell adhesion molecule immunofluorescence staining for...
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Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization

Sills ES, Obregon-Tito AJ, Gao H, McWilliams TK, Gordon AT, Adams CA, Slim R

OBJECTIVE: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition...
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Sperm DNA fragmentation and sex chromosome aneuploidy after swim-up versus density gradient centrifugation

Kim SW, Jee BC, Kim SK, Kim SH

OBJECTIVE: The aim of this study was to compare the efficacy of swim-up and density gradient centrifugation (DGC) for reducing the amount of sperm with fragmented DNA, sex chromosome aneuploidy,...
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Inhibition of c-Yes Induces Differentiation of HT-29 Human Colon Cancer Stem Cells through Midbody Elongation

Jung J, Choi SC, Lee HN, Han GY, Kim CW

Recent research suggests that a small group of cells, named cancer stem cells (CSCs), is responsible for initiating tumor formation, recurrence, and metastasis. c-Yes, a proto-oncogene that is a subfamily...
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An overview of current knowledge about cell-free RNA in amniotic fluid

Jung YW, Shin YJ, Shim SH, Cha DH

Cell-free nucleic acids (cf-NAs) originate in trophoblasts and are detected in the maternal plasma. Using innovative bioinformatic technologies such as next-generation sequencing, cf-NAs in the maternal plasma have been rapidly...
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