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Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(1) Prenatal Aneuploidy Screening

Choe SA, Seol HJ, Kwon JY, Park CW, Kim M, Lee JY, Kim MA, Hwang HS, Na S, Shim JY, Kim K, Ryu HM

In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical...
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Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?

Lee SM, Jun JK, Kim HY, Shin SH, Park JW, Kim MK, Park CW, Park JS

Purpose: Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been...
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Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy

Jung YJ, Lee BR, Kim GJ

Objective To prove the efficacy of determining the abnormal fetal cardiac axis for screening congenital heart defects (CHDs) and predicting fetal aneuploidy at 11.0 to 13.6 weeks of pregnancy. Methods This retrospective study was...
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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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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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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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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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Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy

Park SY, Jang IA, Lee MA, Kim YJ, Chun SH, Park MH

OBJECTIVE: This study was designed to review the screening performance of combined test at the Ewha Womans University Mokdong hospital. METHODS: All women admitted for routine antenatal care between January 1st...
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Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea

Lee MY, Cho DY, Won HS, Hwang AR, Jeong B, Kim J, Oh M

OBJECTIVE: To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. METHODS: This preliminary study formed part...
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Effects on G2/M Phase Cell Cycle Distribution and Aneuploidy Formation of Exposure to a 60 Hz Electromagnetic Field in Combination with Ionizing Radiation or Hydrogen Peroxide in L132 Nontumorigenic Human Lung Epithelial Cells

Jin H, Yoon HE, Lee JS, Kim JK, Myung SH, Lee YS

The aim of the present study was to assess whether exposure to the combination of an extremely low frequency magnetic field (ELF-MF; 60 Hz, 1 mT or 2 mT) with...
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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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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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Maternal antimullerian hormone as a predictor of fetal aneuploidy occurring in an early pregnancy loss

Shim SH, Ha HI, Jung YW, Shim SS, Cho YK, Kim JY, Lee KJ, Cha DH, Kim SH, Park HJ

OBJECTIVE: The purpose of the study was to examine the relationship between the parameter representing ovarian reserve and the fetal aneuploidy in early spontaneous miscarriage. METHODS: A multicenter retrospective cohort study...
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Prenatal maternal serum screening for fetal aneuploidy

Lee SW

During recent decades, prenatal screening strategies have evolved greatly. Prenatal screening, including the diagnosis of fetal aneuploidy, includes invasive and non-invasive methods. Various combinations of first and second trimester maternal...
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Clinical application of non-invasive prenatal testing using cell free fetal DNA

Yang JI

Non-invasive prenatal testing using next generation sequencing technology with cell free fetal DNA from the blood of pregnant women has been rapidly adopted as a screening test for the detection...
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Partial Hepatectomy in Acetylation-Deficient BubR1 Mice Corroborates that Chromosome Missegregation Initiates Tumorigenesis

Lee YK, Park I, Lee H

BACKGROUND: Aneuploidy has been suggested as one of the major causes of cancer from the time of Boveri. In support of this notion, many studies have shown that cancer cells...
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Prenatal diagnosis of double aneuploidy, 48, XXY, +21 (Down-Klinefelter syndrome)

Kim YR, Park HR, Jang JH, Chang SW, Moon MJ, Jung SH

The occurrence of double aneuploidy in the same individual is a relatively rare phenomenon and the incidence varies according to the literature. We report an exceptional case of double aneuploidy...
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Fetal Sonography for the Detection of Chromosomal Abnormality

Song MJ

  • KMID: 1451382
  • J Korean Soc Ultrasound Med.
  • 2011 Jun;30(2):75-82.
Over the past decade, women's health clinicians have witnessed a shift of the paradigm for the approach to prenatal screening for chromosomal abnormalities. From an emphasis on age-based invasive diagnostic...
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Effects of Chromosomal Polyploidy on Survival of Colon Cancer Cells

Park SU, Choi ES, Jang YS, Hong SH, Kim IH, Chang DK

BACKGROUND/AIMS: Tetraploid cells are frequently observed in the inflamed mucosal epithelial cells of the patients with Barrett's esophagus or chronic ulcerative colitis. Polyploidy often occurs during cell fusion, abortive cell...
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