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Papers by Dong Cha

Research paper thumbnail of A Novel Paradigm for Non-Invasive Prenatal Genetic Screening: Trophoblast Retrieval and Isolation from the Cervix (TRIC)

Diagnostics

As the prevalence of pregnancies with advanced maternal age increases, the risk of fetal chromoso... more As the prevalence of pregnancies with advanced maternal age increases, the risk of fetal chromosomal abnormalities is on the rise. Therefore, prenatal genetic screening and diagnosis have become essential elements in contemporary obstetrical care. Trophoblast retrieval and isolation from the cervix (TRIC) is a non-invasive procedure that can be utilized for prenatal genetic diagnosis. The method involves the isolation of fetal cells (extravillous trophoblasts) by transcervical sampling; along with its non-invasiveness, TRIC exhibits many other advantages such as its usefulness in early pregnancy at 5 weeks of gestation, and no interference by various fetal and maternal factors. Moreover, the trophoblast yields from TRIC can provide valuable information about obstetrical complications related to abnormal placentation even before clinical symptoms arise. The standardization of this clinical tool is still under investigation, and the upcoming advancements in TRIC are expected to meet t...

Research paper thumbnail of Advanced Strategy of Trophoblasts Retrieval and Isolation from the Cervix (TRIC): Comparison of Two HLA-G Antibodies for Immunomagnetic Isolation of Trophoblasts

Journal of Personalized Medicine

Trophoblasts retrieval and isolation from the cervix (TRIC) is a non-invasive method which enable... more Trophoblasts retrieval and isolation from the cervix (TRIC) is a non-invasive method which enables analysis of fetal genetic information from the extravillous trophoblast cells (EVTs). The aim of this study was to compare the efficacy of the HLA-G antibodies—G233 and 4H84—in isolating EVT cells and provide an optimized protocol of TRIC. We analyzed EVTs from 23 pregnant women in between 5 to 20 weeks of gestation who underwent invasive prenatal testing. Two HLA-G antibodies—G233 and 4H84—were used in a subgroup of 11 and 12 samples for immunomagnetic isolation. Cells with β-hCG expression were counted to compare the rate of isolated trophoblast cells. The rate of β-hCG positive cells was significantly different between the G233 and the 4H84 by immunefluorescence microscopy (p < 0.001). The percentage of β-hCG expressing cells in G233 and 4H84 groups were 62.4 ± 8.24% and 82.6 ± 7.1%, respectively (p < 0.001). The average fetal cell positive rate was 14.1 ± 3.78 in the G233 gro...

Research paper thumbnail of Influence of Maternal Microbiome and Inflammatory Response in Preterm Birth: Recent Aspects of the Prevention of Preterm Birth

Microbiology Research

Preterm birth (PTB) is a global health issue and one of the most challenging problems affecting 1... more Preterm birth (PTB) is a global health issue and one of the most challenging problems affecting 12.9 million births worldwide. PTB is a multi-etiological disease and remains incompletely understood. The major cause of PTB is infection or inflammation and disruption of the vaginal microbiome, which affects the maternal immunologic response leading to PTB. The vaginal microbiome composition changes by a shift in the community are typically dominated by Lactobacillus during pregnancy. There are complex interactions between the maternal microbiome in pregnancy and the development of PTB, therefore, researchers have struggled to connect the maternal microbiome with the dysregulation of the maternal immune response in cases of PTB. The host microbiome affects alterations of the microorganisms with external stimuli such as disease, nutrition, immunity, and behavior. In this review, we discuss the complex association between the maternal microbiome and the risk of PTB and also focus on rece...

Research paper thumbnail of Comparison of anti-gamma hemoglobin antibody and CD71 antibodies in isolation of fetal nucleated erythrocytes from maternal blood

Obstetrics & gynecology science, 2005

Objective: In an attempt to further maximize the potential of genetic analysis from fetal cells i... more Objective: In an attempt to further maximize the potential of genetic analysis from fetal cells isolation, fetal nucleated red blood cell (FNRBC) recovery with direct anti-gamma hemoglobin staining after density gradient and depletion was compared with three different whole blood magnetic separations (1-step and 2-step ferrofluid, 2-step Dynal beads). Methods: In model systems such as quantitatively defined spikes of fetal into adult blood, as well as blood samples after surgical termination procedures, fetal cell yield and purity through the results of fluorescence in situ hybridization (FISH), quantitative real time polymerase chain reaction (PCR), and fluorescence-activated cell sorting (FACS) were calculated. Results: The yield of total number of cells with a XY signal after FISH was the highest on direct anti-gamma hemoglobin staining. After normalizing the results of each experiment to the corresponding result from anti-gamma hemoglobin staining (1), ratio is 0.42 in 1-step fe...

Research paper thumbnail of A transport system based on a quantum dot-modified nanotracer is genetically and developmentally stable in pregnant mice

Biomaterials Science, 2020

The use of nanoscale materials (NMs) could cause problems such as cytotoxicity, genomic aberratio... more The use of nanoscale materials (NMs) could cause problems such as cytotoxicity, genomic aberration, but the impacts of NM exposure during pregnancy remain uncharacterized in the context of clinical applications.

Research paper thumbnail of Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Journal of Genetic Medicine, 2017

Two types of CES have been classified on the basis of location of the two breakpoints. The smalle... more Two types of CES have been classified on the basis of location of the two breakpoints. The smaller type 1 CES chromosomes have two proximal breakpoints without the DiGeorge critical region (DGCR). The larger type II CES chromosomes have one or two distal breakpoints, which contain one or two additional copies of the DGCR [4]. Since estimation of the direct correlation between the extent of duplicated chromosome 22 segment and the severity of the CES remains difficult, determination of the type of CES chromosome does not currently have prognostic value [5]. In this report, we present the first prenatal diagnosis of CES in a fetus showing heart anomaly. The combination of cytogenetic Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Research paper thumbnail of Ten-year Clinical Study of Chorionic Villus Sampling

Journal of Genetic Medicine, 2011

Purpose: We evaluated indications for chorionic villus sampling (CVS), the positive predictive va... more Purpose: We evaluated indications for chorionic villus sampling (CVS), the positive predictive value of CVS for fetal chromosomal abnormalities, and the fetal loss rate after CVS at CHA Medical Center. Materials and Methods: We reviewed the medical records of 511 cases of CVS performed between 67 and 120 days of gestation for prenatal cytogenetic diagnosis from April 2000 to April 2010. Fetal karyotypes were obtained by direct and indirect culture methods. Results: The most common indications for CVS were abnormal ultrasonic findings including increased nuchal translucency (294/635, 46.3%). The positive predictive value of abnormal karyotyping according to indication for CVS was highest in cases with abnormal parental karyotypes (14/21, 66.7%). Mosaicism revealed by CVS comprised 3.1% of the sample (16/509). Amniocentesis revealed two cases of true mosaicism and 11 cases of confined placental mosaicism. The fetal loss rate within 4 weeks of the procedure was 1.2% (6/511). Conclusion: If CVS is performed by an expert clinician, it is a feasible and reliable procedure for prenatal genetic diagnosis. When CVS indicates mosaicism, the finding should be confirmed by amniocentesis to distinguish true mosaicism from confined placental mosaicism.

Research paper thumbnail of Microchimerism of Fetal Origin in Ovarian Tissues from Women with Pelvic Endometriosis

Obstetrics & gynecology science, 2005

Objective: To investigate whether fetal microchimeric cells were detected in ovarian tissues with... more Objective: To investigate whether fetal microchimeric cells were detected in ovarian tissues with pelvic endometriosis. Methods: Ovarian tissues with endometriosis were obtained from five women who had at least one live-born son and who underwent enucleation of endometriotic cyst or oophorectomy after a diagnosis of endometriotic cyst. Control tissues were obtained from five women with endometriosis who had no pregnant history. Tissue sections were analyzed with fluorescence in situ hybridization for the presence of fetal cells, defined by X and Y chromosome. Results: Fluorescence in situ hybridization using paraffin-embedded ovarian specimens was performed successfully. Male cells were found in ovarian tissues from all five patients. No male cells were found in ovarian tissues from all five controls. Conclusion: Fetal microchimeric cells, possibly from feto-maternal cell trafficking were detected in ovarian tissues with endometriosis were obtained from women who had prior male preg...

Research paper thumbnail of The Efficacy and Safety of Inflatable Obstetric Belts for Management of the Second Stage of Labor

Journal of Korean Medical Science, 2009

This study was designed to assess the effect of inflatable obstetric belts on uterine fundal pres... more This study was designed to assess the effect of inflatable obstetric belts on uterine fundal pressure in the management of the second stage of labor. One hundred twenty-three nulliparas with a singleton cephalic pregnancy at term were randomized. Standard care was performed in the control group, and uterine fundal pressure by the Labor Assister TM (Baidy M-420/Curexo, Inc., Seoul, Korea) was utilized in addition to standard care in the active group. The Labor Assister TM is an inflatable obstetric belts that synchronized to apply uniform fundal pressure during a uterine contraction. The 62 women in the active group spent less time in the second stage of labor when compared to the 61 women in the control group (41.55±30.39 min vs. 62.11±35.99 min). There was no significant difference in perinatal outcomes between the two groups. In conclusion, the uterine fundal pressure exerted by the Labor Assister TM reduces the duration of the second stage of labor without attendant complications.

Research paper thumbnail of A Comparative Study of the Effect of Fibrin Glue versus Sutures on Clinical Outcome in Patients Undergoing Pterygium Excision and Conjunctival Autografts

Korean journal of ophthalmology : KJO, 2012

Research paper thumbnail of Erratum to: Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis

Archives of Gynecology and Obstetrics, 2014

Research paper thumbnail of A Case of Long Anterior Lens Zonule and Pigment Dispersion Syndrome

Journal of the Korean Ophthalmological Society, 2014

Research paper thumbnail of Down syndrome biochemical markers and screening for preeclampsia at first and second trimester: correlation with the week of onset and the severity

Prenatal Diagnosis, 2008

To estimate the combined screening performance of first and early second trimester prenatal serum... more To estimate the combined screening performance of first and early second trimester prenatal serum markers for Down syndrome, in screening for the development of preeclampsia, and analyze the correlation among marker levels, week of onset, and severity of the disease. A retrospective cohort study was carried out on 32 women with preeclampsia and 3044 controls. Serum samples from these pregnancies were assayed for pregnancy-associated plasma protein-A (PAPP-A), alpha-fetoprotein (AFP), unconjugated estriol (uE3), human chorionic gonadotrophin (hCG), and inhibin-A. A likelihood ratio and the odds of being affected given a positive result (OAPR) of various combinations of markers were calculated and receiver operating characteristic (ROC) curves analysis was performed. In the pregnancies that subsequently developed preeclampsia, first trimester PAPP-A concentration was significantly lower and concentrations of early second trimester inhibin-A and hCG significantly elevated. Levels of early second trimester uE3 and AFP were not significantly altered. We also found that inhibin-A correlates with both onset of the disease and the severity. Down syndrome biochemical markers levels are altered in those patients who subsequently developed preeclampsia and may be a useful screening test for preeclampsia. Inhibin-A is the most predictive marker and correlates with the severity of subsequent preeclampsia and inversely with the week of occurrence of preeclampsia.

Research paper thumbnail of Prognostic factors for treatment outcomes in transient tachypnea of the newborn

Pediatrics International, 2012

Background: Transient tachypnea of the newborn (TTN) is a clinical syndrome associated with respi... more Background: Transient tachypnea of the newborn (TTN) is a clinical syndrome associated with respiratory distress usually seen shortly after delivery in infants. This study aims to determine the risk factors predicting treatment outcomes in infants with TTN. Methods: Data from 236 infants diagnosed with TTN during the study period were evaluated retrospectively. Logistic regression analyses were performed to select significant risk factor for prognosis (prolonged oxygen therapy, application of mechanical ventilator, and prolonged hospital stay) of TTN among components of clinical variables. Results: Of the 236 TTN infants, 111 (47.0%) infants were delivered via cesarean section (CS) without labor, 29 (12.3%) infants were delivered via CS with labor, and 96 (40.7%) were delivered via vaginal birth. Lower Apgar score at 1 min (OR: 3.03; 95%CI: 1.25-7.36) and lower umbilical artery pH (OR: 4.00; 95%CI 1.55-10.49) were associated with a significantly increased risk for mechanical ventilator care. Also, late-preterm delivery (OR: 4.70; 95%CI: 2.11-10.49) was independently associated with risk of prolonged duration of hospital stay. Conclusions: Late-preterm delivery, lower initial umbilical artery pH (<7.25), and lower Apgar score at 1 min were independently associated with poor prognostic treatment outcomes in infants with TTN.

Research paper thumbnail of Global Gene Expression Changes Induced in the Human Placenta during Labor

Placenta, 2010

Objectives: To gain insight into the process of labor and the effects of labor on placental gene ... more Objectives: To gain insight into the process of labor and the effects of labor on placental gene expression, we performed a microarray analysis to identify the differentially expressed transcripts that may participate in labor onset and progression. Methods: We compared expression profiles in placentas from 16 women who underwent elective nonlabored cesarean section and from seven women who underwent vaginal delivery. Oligonucleotide probes representing 55,000 genes were used to measure gene expression. Differential gene expression was evaluated using the Student's t-test and fold change assessment and reverse transcription PCR was used to validate the differentially expressed genes. Results: A total of 351 genes were found to be differentially expressed between the two groups. Among these differentially expressed genes, 344 genes were up-regulated and seven were down-regulated. These differentially expressed genes involved 15 categories including genes involved in stress response, immune response, cell death, coagulation, and blood vessel development which are considered to be most closely associated with the inflammatory response that characterizes labor. Conclusion: A total of 351 differentially expressed genes of 15 categories were found in the placentas of the vaginal delivery group, indicating a diversity of gene expression alteration and complexity in the labor process. These gene expression changes could be a cause of labor onset and progress or simply an effect of labor.

Research paper thumbnail of A Case of Sympathetic Ophthalmia Presenting with Extraocular Symptoms and Conjunctival Pigmentation after Repeated 23-gauge Vitrectomy

Ocular Immunology and Inflammation, 2010

Purpose: To report a case of sympathetic ophthalmia presenting with extraocular symptoms after 23... more Purpose: To report a case of sympathetic ophthalmia presenting with extraocular symptoms after 23-gauge sutureless vitrectomy.

Research paper thumbnail of Cervical cancer and microchimerism

Obstetrics & Gynecology, 2003

To determine whether microchimerism is involved in the pathogenesis or progression of cervical ca... more To determine whether microchimerism is involved in the pathogenesis or progression of cervical cancer.

Research paper thumbnail of ITI-H4, as a biomarker in the serum of recurrent pregnancy loss (RPL) patients

Molecular BioSystems, 2011

Recurrent pregnancy loss (RPL) is defined as at least three pregnancy losses in series prior to t... more Recurrent pregnancy loss (RPL) is defined as at least three pregnancy losses in series prior to the 20-28 weeks of pregnancy. There are several etiological factors associated with immunology, anatomy, endocrinology, genetic, infection, chromosomal abnormalities, and environmental factors contributing to the condition. The aim of this study was to identify RPL associated factors in human blood using proteomics. Since it is difficult to obtain tissues or follicular fluids, we used blood samples from normal and RPL patients to conduct a comparative proteomic study. Three RPL blood samples and one cocktailed blood sample from 3 normal women were used. We performed 2-DE and selected spots were analyzed with MALDI-TOF/MS. In the three RPL blood samples, 2-DE analysis revealed 549, 563 and 533 spots to be differentially expressed, respectively. Through a comparative analysis between the control and RPL, 21 spots were shown to be differentially expressed. Of these, 5 proteins were confirmed by Western blot analysis. One of these proteins, ITI-H4 (inter-α trypsin inhibitor-heavy chain 4), was weakly expressed at a molecular weight of 120 kDa, but was highly expressed at a modified molecular weight of 36 kDa in RPL patients. These findings suggest that ITI-H4 expression may be used as a biomarker, which could facilitate the development of novel diagnostic and therapeutic tools.

Research paper thumbnail of Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure

Menopause, 2014

This study examined whether epistasis between single nucleotide polymorphisms (SNPs) within propr... more This study examined whether epistasis between single nucleotide polymorphisms (SNPs) within proprotein convertase subtilisin/kexin type 1 (PCSK1) and dopamine β-hydroxylase (DBH) genes is associated with premature ovarian failure (POF). One hundred twenty women with POF and 222 female controls were recruited for this study. To genotype SNPs within PCSK1 and DBH, we used a GoldenGate assay with VeraCode technology, which uses an allele-specific primer extension method. Two SNPs (rs155979 and rs3762986) within PCSK1 and one SNP (rs1611114) within DBH, which were located in the 5&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; flanking region, were involved in synergistic interactions. The C allele in the rs155979 SNP showed an increased risk of POF in a dominant model when AA genotype in the rs1611114 SNP was present (odds ratio, 3.60; 95% CI, 1.82-7.14; P = 0.00024), whereas the G allele in the rs1611114 SNP showed a reduced risk of POF in a dominant model when at least one C allele at the rs155979 SNP was present (odds ratio, 0.24; 95% CI, 0.11-0.51; P = 0.00018) or one G allele at the rs3762986 SNP was present (odds ratio, 0.33; 95% CI, 0.19-0.60; P = 0.00023). Epistases between SNPs within PCSK1 and DBH genes are significantly associated with susceptibility or resistance to POF.

Research paper thumbnail of Preeclampsia leads to dysregulation of various signaling pathways in placenta

Journal of Hypertension, 2011

To compare gene expression profiles of placentas from preeclamptic and normal pregnancies. We per... more To compare gene expression profiles of placentas from preeclamptic and normal pregnancies. We performed microarray experiments to analyze genome-wide expression profiling for 10 placentas from pregnant women with preeclampsia and 10 placentas from women who experienced noncomplicated pregnancies (CON), and to identify dysregulated signaling pathways as well as genes in preeclampsia. RT-PCR, real-time RT-PCR and/or immunofluorescence analyses were performed to validate the data obtained from microarray experiments. Unsupervised hierarchical clustering showed heterogeneity of preeclampsia at the molecular levels, whereas expression profiles of preeclampsia are distinctly different from those of CON. A list of genes which are differentially expressed between preeclampsia and CON included well known preeclampsia markers, such as Flt-1, leptin, HTRA1 and SIGLEC6. Gene Set Enrichment Analysis, a pathway-oriented analysis method for expression profiles, provided evidence that a number of biological activities including pathways that regulate actin cytoskeleton, TGFβ signaling, oxidative phosphorylation, and proteasome activity were aberrantly either up-regulated or down-regulated in preeclampsia. RT-PCR and real-time-RT-PCR for genes contributing these biological pathways (gene sets) enriched in either CON or preeclampsia reinforced that these biological processes were systemically dysregulated in preeclampsia. Genome-wide expression profiles of preeclampsia showed heterogeneous characteristics of preeclampsia at the molecular levels. Dysregulation of genes and biological pathways could contribute to abnormal behavior of preeclmapsia. Our results will help further understand underlying mechanisms by which preeclampsia affects placental physiology.

Research paper thumbnail of A Novel Paradigm for Non-Invasive Prenatal Genetic Screening: Trophoblast Retrieval and Isolation from the Cervix (TRIC)

Diagnostics

As the prevalence of pregnancies with advanced maternal age increases, the risk of fetal chromoso... more As the prevalence of pregnancies with advanced maternal age increases, the risk of fetal chromosomal abnormalities is on the rise. Therefore, prenatal genetic screening and diagnosis have become essential elements in contemporary obstetrical care. Trophoblast retrieval and isolation from the cervix (TRIC) is a non-invasive procedure that can be utilized for prenatal genetic diagnosis. The method involves the isolation of fetal cells (extravillous trophoblasts) by transcervical sampling; along with its non-invasiveness, TRIC exhibits many other advantages such as its usefulness in early pregnancy at 5 weeks of gestation, and no interference by various fetal and maternal factors. Moreover, the trophoblast yields from TRIC can provide valuable information about obstetrical complications related to abnormal placentation even before clinical symptoms arise. The standardization of this clinical tool is still under investigation, and the upcoming advancements in TRIC are expected to meet t...

Research paper thumbnail of Advanced Strategy of Trophoblasts Retrieval and Isolation from the Cervix (TRIC): Comparison of Two HLA-G Antibodies for Immunomagnetic Isolation of Trophoblasts

Journal of Personalized Medicine

Trophoblasts retrieval and isolation from the cervix (TRIC) is a non-invasive method which enable... more Trophoblasts retrieval and isolation from the cervix (TRIC) is a non-invasive method which enables analysis of fetal genetic information from the extravillous trophoblast cells (EVTs). The aim of this study was to compare the efficacy of the HLA-G antibodies—G233 and 4H84—in isolating EVT cells and provide an optimized protocol of TRIC. We analyzed EVTs from 23 pregnant women in between 5 to 20 weeks of gestation who underwent invasive prenatal testing. Two HLA-G antibodies—G233 and 4H84—were used in a subgroup of 11 and 12 samples for immunomagnetic isolation. Cells with β-hCG expression were counted to compare the rate of isolated trophoblast cells. The rate of β-hCG positive cells was significantly different between the G233 and the 4H84 by immunefluorescence microscopy (p < 0.001). The percentage of β-hCG expressing cells in G233 and 4H84 groups were 62.4 ± 8.24% and 82.6 ± 7.1%, respectively (p < 0.001). The average fetal cell positive rate was 14.1 ± 3.78 in the G233 gro...

Research paper thumbnail of Influence of Maternal Microbiome and Inflammatory Response in Preterm Birth: Recent Aspects of the Prevention of Preterm Birth

Microbiology Research

Preterm birth (PTB) is a global health issue and one of the most challenging problems affecting 1... more Preterm birth (PTB) is a global health issue and one of the most challenging problems affecting 12.9 million births worldwide. PTB is a multi-etiological disease and remains incompletely understood. The major cause of PTB is infection or inflammation and disruption of the vaginal microbiome, which affects the maternal immunologic response leading to PTB. The vaginal microbiome composition changes by a shift in the community are typically dominated by Lactobacillus during pregnancy. There are complex interactions between the maternal microbiome in pregnancy and the development of PTB, therefore, researchers have struggled to connect the maternal microbiome with the dysregulation of the maternal immune response in cases of PTB. The host microbiome affects alterations of the microorganisms with external stimuli such as disease, nutrition, immunity, and behavior. In this review, we discuss the complex association between the maternal microbiome and the risk of PTB and also focus on rece...

Research paper thumbnail of Comparison of anti-gamma hemoglobin antibody and CD71 antibodies in isolation of fetal nucleated erythrocytes from maternal blood

Obstetrics & gynecology science, 2005

Objective: In an attempt to further maximize the potential of genetic analysis from fetal cells i... more Objective: In an attempt to further maximize the potential of genetic analysis from fetal cells isolation, fetal nucleated red blood cell (FNRBC) recovery with direct anti-gamma hemoglobin staining after density gradient and depletion was compared with three different whole blood magnetic separations (1-step and 2-step ferrofluid, 2-step Dynal beads). Methods: In model systems such as quantitatively defined spikes of fetal into adult blood, as well as blood samples after surgical termination procedures, fetal cell yield and purity through the results of fluorescence in situ hybridization (FISH), quantitative real time polymerase chain reaction (PCR), and fluorescence-activated cell sorting (FACS) were calculated. Results: The yield of total number of cells with a XY signal after FISH was the highest on direct anti-gamma hemoglobin staining. After normalizing the results of each experiment to the corresponding result from anti-gamma hemoglobin staining (1), ratio is 0.42 in 1-step fe...

Research paper thumbnail of A transport system based on a quantum dot-modified nanotracer is genetically and developmentally stable in pregnant mice

Biomaterials Science, 2020

The use of nanoscale materials (NMs) could cause problems such as cytotoxicity, genomic aberratio... more The use of nanoscale materials (NMs) could cause problems such as cytotoxicity, genomic aberration, but the impacts of NM exposure during pregnancy remain uncharacterized in the context of clinical applications.

Research paper thumbnail of Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Journal of Genetic Medicine, 2017

Two types of CES have been classified on the basis of location of the two breakpoints. The smalle... more Two types of CES have been classified on the basis of location of the two breakpoints. The smaller type 1 CES chromosomes have two proximal breakpoints without the DiGeorge critical region (DGCR). The larger type II CES chromosomes have one or two distal breakpoints, which contain one or two additional copies of the DGCR [4]. Since estimation of the direct correlation between the extent of duplicated chromosome 22 segment and the severity of the CES remains difficult, determination of the type of CES chromosome does not currently have prognostic value [5]. In this report, we present the first prenatal diagnosis of CES in a fetus showing heart anomaly. The combination of cytogenetic Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Research paper thumbnail of Ten-year Clinical Study of Chorionic Villus Sampling

Journal of Genetic Medicine, 2011

Purpose: We evaluated indications for chorionic villus sampling (CVS), the positive predictive va... more Purpose: We evaluated indications for chorionic villus sampling (CVS), the positive predictive value of CVS for fetal chromosomal abnormalities, and the fetal loss rate after CVS at CHA Medical Center. Materials and Methods: We reviewed the medical records of 511 cases of CVS performed between 67 and 120 days of gestation for prenatal cytogenetic diagnosis from April 2000 to April 2010. Fetal karyotypes were obtained by direct and indirect culture methods. Results: The most common indications for CVS were abnormal ultrasonic findings including increased nuchal translucency (294/635, 46.3%). The positive predictive value of abnormal karyotyping according to indication for CVS was highest in cases with abnormal parental karyotypes (14/21, 66.7%). Mosaicism revealed by CVS comprised 3.1% of the sample (16/509). Amniocentesis revealed two cases of true mosaicism and 11 cases of confined placental mosaicism. The fetal loss rate within 4 weeks of the procedure was 1.2% (6/511). Conclusion: If CVS is performed by an expert clinician, it is a feasible and reliable procedure for prenatal genetic diagnosis. When CVS indicates mosaicism, the finding should be confirmed by amniocentesis to distinguish true mosaicism from confined placental mosaicism.

Research paper thumbnail of Microchimerism of Fetal Origin in Ovarian Tissues from Women with Pelvic Endometriosis

Obstetrics & gynecology science, 2005

Objective: To investigate whether fetal microchimeric cells were detected in ovarian tissues with... more Objective: To investigate whether fetal microchimeric cells were detected in ovarian tissues with pelvic endometriosis. Methods: Ovarian tissues with endometriosis were obtained from five women who had at least one live-born son and who underwent enucleation of endometriotic cyst or oophorectomy after a diagnosis of endometriotic cyst. Control tissues were obtained from five women with endometriosis who had no pregnant history. Tissue sections were analyzed with fluorescence in situ hybridization for the presence of fetal cells, defined by X and Y chromosome. Results: Fluorescence in situ hybridization using paraffin-embedded ovarian specimens was performed successfully. Male cells were found in ovarian tissues from all five patients. No male cells were found in ovarian tissues from all five controls. Conclusion: Fetal microchimeric cells, possibly from feto-maternal cell trafficking were detected in ovarian tissues with endometriosis were obtained from women who had prior male preg...

Research paper thumbnail of The Efficacy and Safety of Inflatable Obstetric Belts for Management of the Second Stage of Labor

Journal of Korean Medical Science, 2009

This study was designed to assess the effect of inflatable obstetric belts on uterine fundal pres... more This study was designed to assess the effect of inflatable obstetric belts on uterine fundal pressure in the management of the second stage of labor. One hundred twenty-three nulliparas with a singleton cephalic pregnancy at term were randomized. Standard care was performed in the control group, and uterine fundal pressure by the Labor Assister TM (Baidy M-420/Curexo, Inc., Seoul, Korea) was utilized in addition to standard care in the active group. The Labor Assister TM is an inflatable obstetric belts that synchronized to apply uniform fundal pressure during a uterine contraction. The 62 women in the active group spent less time in the second stage of labor when compared to the 61 women in the control group (41.55±30.39 min vs. 62.11±35.99 min). There was no significant difference in perinatal outcomes between the two groups. In conclusion, the uterine fundal pressure exerted by the Labor Assister TM reduces the duration of the second stage of labor without attendant complications.

Research paper thumbnail of A Comparative Study of the Effect of Fibrin Glue versus Sutures on Clinical Outcome in Patients Undergoing Pterygium Excision and Conjunctival Autografts

Korean journal of ophthalmology : KJO, 2012

Research paper thumbnail of Erratum to: Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis

Archives of Gynecology and Obstetrics, 2014

Research paper thumbnail of A Case of Long Anterior Lens Zonule and Pigment Dispersion Syndrome

Journal of the Korean Ophthalmological Society, 2014

Research paper thumbnail of Down syndrome biochemical markers and screening for preeclampsia at first and second trimester: correlation with the week of onset and the severity

Prenatal Diagnosis, 2008

To estimate the combined screening performance of first and early second trimester prenatal serum... more To estimate the combined screening performance of first and early second trimester prenatal serum markers for Down syndrome, in screening for the development of preeclampsia, and analyze the correlation among marker levels, week of onset, and severity of the disease. A retrospective cohort study was carried out on 32 women with preeclampsia and 3044 controls. Serum samples from these pregnancies were assayed for pregnancy-associated plasma protein-A (PAPP-A), alpha-fetoprotein (AFP), unconjugated estriol (uE3), human chorionic gonadotrophin (hCG), and inhibin-A. A likelihood ratio and the odds of being affected given a positive result (OAPR) of various combinations of markers were calculated and receiver operating characteristic (ROC) curves analysis was performed. In the pregnancies that subsequently developed preeclampsia, first trimester PAPP-A concentration was significantly lower and concentrations of early second trimester inhibin-A and hCG significantly elevated. Levels of early second trimester uE3 and AFP were not significantly altered. We also found that inhibin-A correlates with both onset of the disease and the severity. Down syndrome biochemical markers levels are altered in those patients who subsequently developed preeclampsia and may be a useful screening test for preeclampsia. Inhibin-A is the most predictive marker and correlates with the severity of subsequent preeclampsia and inversely with the week of occurrence of preeclampsia.

Research paper thumbnail of Prognostic factors for treatment outcomes in transient tachypnea of the newborn

Pediatrics International, 2012

Background: Transient tachypnea of the newborn (TTN) is a clinical syndrome associated with respi... more Background: Transient tachypnea of the newborn (TTN) is a clinical syndrome associated with respiratory distress usually seen shortly after delivery in infants. This study aims to determine the risk factors predicting treatment outcomes in infants with TTN. Methods: Data from 236 infants diagnosed with TTN during the study period were evaluated retrospectively. Logistic regression analyses were performed to select significant risk factor for prognosis (prolonged oxygen therapy, application of mechanical ventilator, and prolonged hospital stay) of TTN among components of clinical variables. Results: Of the 236 TTN infants, 111 (47.0%) infants were delivered via cesarean section (CS) without labor, 29 (12.3%) infants were delivered via CS with labor, and 96 (40.7%) were delivered via vaginal birth. Lower Apgar score at 1 min (OR: 3.03; 95%CI: 1.25-7.36) and lower umbilical artery pH (OR: 4.00; 95%CI 1.55-10.49) were associated with a significantly increased risk for mechanical ventilator care. Also, late-preterm delivery (OR: 4.70; 95%CI: 2.11-10.49) was independently associated with risk of prolonged duration of hospital stay. Conclusions: Late-preterm delivery, lower initial umbilical artery pH (<7.25), and lower Apgar score at 1 min were independently associated with poor prognostic treatment outcomes in infants with TTN.

Research paper thumbnail of Global Gene Expression Changes Induced in the Human Placenta during Labor

Placenta, 2010

Objectives: To gain insight into the process of labor and the effects of labor on placental gene ... more Objectives: To gain insight into the process of labor and the effects of labor on placental gene expression, we performed a microarray analysis to identify the differentially expressed transcripts that may participate in labor onset and progression. Methods: We compared expression profiles in placentas from 16 women who underwent elective nonlabored cesarean section and from seven women who underwent vaginal delivery. Oligonucleotide probes representing 55,000 genes were used to measure gene expression. Differential gene expression was evaluated using the Student's t-test and fold change assessment and reverse transcription PCR was used to validate the differentially expressed genes. Results: A total of 351 genes were found to be differentially expressed between the two groups. Among these differentially expressed genes, 344 genes were up-regulated and seven were down-regulated. These differentially expressed genes involved 15 categories including genes involved in stress response, immune response, cell death, coagulation, and blood vessel development which are considered to be most closely associated with the inflammatory response that characterizes labor. Conclusion: A total of 351 differentially expressed genes of 15 categories were found in the placentas of the vaginal delivery group, indicating a diversity of gene expression alteration and complexity in the labor process. These gene expression changes could be a cause of labor onset and progress or simply an effect of labor.

Research paper thumbnail of A Case of Sympathetic Ophthalmia Presenting with Extraocular Symptoms and Conjunctival Pigmentation after Repeated 23-gauge Vitrectomy

Ocular Immunology and Inflammation, 2010

Purpose: To report a case of sympathetic ophthalmia presenting with extraocular symptoms after 23... more Purpose: To report a case of sympathetic ophthalmia presenting with extraocular symptoms after 23-gauge sutureless vitrectomy.

Research paper thumbnail of Cervical cancer and microchimerism

Obstetrics & Gynecology, 2003

To determine whether microchimerism is involved in the pathogenesis or progression of cervical ca... more To determine whether microchimerism is involved in the pathogenesis or progression of cervical cancer.

Research paper thumbnail of ITI-H4, as a biomarker in the serum of recurrent pregnancy loss (RPL) patients

Molecular BioSystems, 2011

Recurrent pregnancy loss (RPL) is defined as at least three pregnancy losses in series prior to t... more Recurrent pregnancy loss (RPL) is defined as at least three pregnancy losses in series prior to the 20-28 weeks of pregnancy. There are several etiological factors associated with immunology, anatomy, endocrinology, genetic, infection, chromosomal abnormalities, and environmental factors contributing to the condition. The aim of this study was to identify RPL associated factors in human blood using proteomics. Since it is difficult to obtain tissues or follicular fluids, we used blood samples from normal and RPL patients to conduct a comparative proteomic study. Three RPL blood samples and one cocktailed blood sample from 3 normal women were used. We performed 2-DE and selected spots were analyzed with MALDI-TOF/MS. In the three RPL blood samples, 2-DE analysis revealed 549, 563 and 533 spots to be differentially expressed, respectively. Through a comparative analysis between the control and RPL, 21 spots were shown to be differentially expressed. Of these, 5 proteins were confirmed by Western blot analysis. One of these proteins, ITI-H4 (inter-α trypsin inhibitor-heavy chain 4), was weakly expressed at a molecular weight of 120 kDa, but was highly expressed at a modified molecular weight of 36 kDa in RPL patients. These findings suggest that ITI-H4 expression may be used as a biomarker, which could facilitate the development of novel diagnostic and therapeutic tools.

Research paper thumbnail of Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure

Menopause, 2014

This study examined whether epistasis between single nucleotide polymorphisms (SNPs) within propr... more This study examined whether epistasis between single nucleotide polymorphisms (SNPs) within proprotein convertase subtilisin/kexin type 1 (PCSK1) and dopamine β-hydroxylase (DBH) genes is associated with premature ovarian failure (POF). One hundred twenty women with POF and 222 female controls were recruited for this study. To genotype SNPs within PCSK1 and DBH, we used a GoldenGate assay with VeraCode technology, which uses an allele-specific primer extension method. Two SNPs (rs155979 and rs3762986) within PCSK1 and one SNP (rs1611114) within DBH, which were located in the 5&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; flanking region, were involved in synergistic interactions. The C allele in the rs155979 SNP showed an increased risk of POF in a dominant model when AA genotype in the rs1611114 SNP was present (odds ratio, 3.60; 95% CI, 1.82-7.14; P = 0.00024), whereas the G allele in the rs1611114 SNP showed a reduced risk of POF in a dominant model when at least one C allele at the rs155979 SNP was present (odds ratio, 0.24; 95% CI, 0.11-0.51; P = 0.00018) or one G allele at the rs3762986 SNP was present (odds ratio, 0.33; 95% CI, 0.19-0.60; P = 0.00023). Epistases between SNPs within PCSK1 and DBH genes are significantly associated with susceptibility or resistance to POF.

Research paper thumbnail of Preeclampsia leads to dysregulation of various signaling pathways in placenta

Journal of Hypertension, 2011

To compare gene expression profiles of placentas from preeclamptic and normal pregnancies. We per... more To compare gene expression profiles of placentas from preeclamptic and normal pregnancies. We performed microarray experiments to analyze genome-wide expression profiling for 10 placentas from pregnant women with preeclampsia and 10 placentas from women who experienced noncomplicated pregnancies (CON), and to identify dysregulated signaling pathways as well as genes in preeclampsia. RT-PCR, real-time RT-PCR and/or immunofluorescence analyses were performed to validate the data obtained from microarray experiments. Unsupervised hierarchical clustering showed heterogeneity of preeclampsia at the molecular levels, whereas expression profiles of preeclampsia are distinctly different from those of CON. A list of genes which are differentially expressed between preeclampsia and CON included well known preeclampsia markers, such as Flt-1, leptin, HTRA1 and SIGLEC6. Gene Set Enrichment Analysis, a pathway-oriented analysis method for expression profiles, provided evidence that a number of biological activities including pathways that regulate actin cytoskeleton, TGFβ signaling, oxidative phosphorylation, and proteasome activity were aberrantly either up-regulated or down-regulated in preeclampsia. RT-PCR and real-time-RT-PCR for genes contributing these biological pathways (gene sets) enriched in either CON or preeclampsia reinforced that these biological processes were systemically dysregulated in preeclampsia. Genome-wide expression profiles of preeclampsia showed heterogeneous characteristics of preeclampsia at the molecular levels. Dysregulation of genes and biological pathways could contribute to abnormal behavior of preeclmapsia. Our results will help further understand underlying mechanisms by which preeclampsia affects placental physiology.