Cell-free DNA (cfDNA) screening for fetal aneuploidies is clinically available and exhibits better performance than conventional serum screening tests. However, data on the clinical performance of cfDNA screening in twin pregnancies are limited. In this review, we summarized the clinical performance and evaluated the feasibility of cfDNA screening in twin pregnancies based on recent studies and recommendations. The performance of cfDNA screening for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies. Specifically, cfDNA screening has a higher detection rate and lower false-positive rate compared with conventional serum screening. Consequently, recent international guidelines from several academic communities have recommended that cfDNA screening for aneuploidy in twin pregnancies could be considered. Moreover, twin pregnancies can present with specific conditions, such as different zygosities and vanishing twins; therefore, individualized counseling and management are required. Further clinical studies with more twin pregnancies are required for a more accurate analysis.

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Amniocentesis ; Chorionic Villi Sampling ; Cordocentesis ; Cytogenetic Analysis ; Female ; Fetus ; Genetic Counseling ; Humans ; Mothers ; Parents ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Translocation, Genetic ; Ultrasonography* ; Ultrasonography, Prenatal

OBJECTIVE: We wanted to compare the ability of screen-film mammography (SFM) and soft-copy full-field digital mammography (s-FFDM) on two different monitors to detect and characterize microcalcifications. MATERIALS AND METHODS: The images of 40 patients with microcalcifications (three patients had malignant lesion and 37 patients had benign lesion), who underwent both SFM and FFDM at an interval of less than six months, were independently evaluated by three readers. Three reading sessions were undertaken for SFM and for FFDM on a mammography-dedicated review workstation (RWS, 2K x 2.5K), and for FFDM on a high-resolution PACS monitor (1.7K x 2.3K). The image quality, breast composition and the number and conspicuity of the microcalcifications were evaluated using a three-point rating method, and the mammographic assessment was classified into 4 categories (normal, benign, low concern and moderate to great concern). RESULTS: The image quality, the number and conspicuity of the microcalcifications by s-FFDM (on the RWS, PACS and both) were superior to those by SFM in 85.0%, 80.0% and 52.5% of the cases, respectively (p < 0.01), and those by the s-FFDM on the two different monitors were similar in 15.0%, 12.5% and 35.0% of the cases, respectively (p > 0.01). The mammographic assessment category for the microcalcifications in the three reading sessions was similar. CONCLUSION: s-FFDM gives a superior image quality to SFM and it is better at evaluating microcalcifications. In addition, s-FFDM with the PACS monitor is comparable to s-FFDM with the RWS for evaluating microcalcifications.
*Radiographic Image Enhancement ; Mammography/*methods ; Humans ; Female ; Calcinosis/*radiography ; Breast Diseases/*radiography

OBJECTIVE: The purpose of this study is to evaluate the effectiveness and safety of uterine artery embolization for the treatment of symptomatic leiomyomas in the patients who want to preserve uterus, want fertility or feel fear for operation. METHODS: From January 2003 to June 2005, among the patients with symptomatic uterine leiomyoma, fifteen women who wanted to preserve uterus or wanted fertility or had fear for operation were included in this retrospective study. Bilateral Uterine artery embolization (UAE) was performed. At the preprocedure and at 2, 6, and 12 weeks of postprocedure, transvaginal ultrasonography was performed for all patients. Clinical symptoms and follow-up information for each patient were evaluated. RESULTS: 15 leimyomas were treated with UAE. The initial mean volume of leiomyomas was 55.4 (46.3-67.4) cm3. The mean volume decrease was 58.6+/-9.7%, 77.5+/-12.3%, 86.8+/-23.5% at 2, 6, 12 weeks. The outcome of clinical symptoms were as followed; 'much improved' 20% (3/15), 'somewhat improved' 60% (6/15), 'no improvement' 20% (3/15), 'somewhat worsen's 0% (0/15), and 'much worsen' was 0% (0/15). There was no case of hysterectomy or myomectomy after UAE. And also no case of increasement of volume nor worsening of clinical symptoms were found. Lower abdominal pain was the most common symptoms after UAE, but complications were not detected. CONCLUSION: In this study, UAE to treat patients with uterine leiomyoma is proved to be effective not only in volume reduction, but also in symptom improvement. And it is a relatively less-invasive procedure which decreases the risk of side effects of operation. Above all things, it preserves fecundity in young women. Therefore, UAE is very effective and safe procedure in the treatment of symptomatic uterine leiomyoma.
Abdominal Pain ; Female ; Fertility ; Follow-Up Studies ; Humans ; Hysterectomy ; Leiomyoma* ; Retrospective Studies ; Ultrasonography ; Uterine Artery Embolization ; Uterus

Mediastinal interfaces on a chest radiograph result from contact between mediastinal structures and the adjacent lung, while mediastinal lines result from contact between the two lungs across the midline. A variation of mediastinal interface is mediastinal stripe, a narrow band produced by contact of both sides of a mediastinal structure with the lungs. Alterations in mediastinal interfaces and lines may be due to variations in normal anatomy, or may reflect the presence of abnormalities within the mediastinum. Familiarity with the various normal mediastinal interfaces and lines, and the changes that occur with disease is important for the interpretation of the chest radiograph and in the diagnosis of mediastinal abnormalities. The purpose of this pictorial essay is to illustrate the most important normal and abnormal interfaces and lines and also to correlate radiographic and CT findings.
Diagnosis ; Lung ; Mediastinum ; Radiography, Thoracic ; Recognition (Psychology)

PURPOSE: The goal of this study was to survey the overall quality of mammographic images in Korea. MATERIALS AND METHODS: A total of 598 mammographic images collected from 257 hospitals nationwide were reviewed in terms of eight image quality categories, namely positioning, compression, contrast, exposure, sharpness, noise, artifacts, and examination identification, and rated on a five-point scale: (1=severe deficiency, 2=major deficiency, 3=minor deficiency, 4=good, 5=best). Failure was defined as the occurrence of more than four major deficiencies or one severe deficiency (score of 1 or 2). The results were compared among hospitals of varying kinds, and common problems in clinical image quality were identified. RESULTS: Two hundred and seventeen mammographic images (36.3%) failed the evaluation. Poor images were found in descending order of frequency, at The Society for Medical Examination (33/69, 47.8%), non-radiology clinics (42/88, 47.7%), general hospitals (92/216, 42.6%), radiology clinics (39/102, 38.2%), and university hospitals (11/123, 8.9%) (p<0.01, Chi-square test). Among the 598 images, serious problems which occurred were related to positioning in 23.7% of instances (n=142) (p<0.01, Chi-square test), examination identification in 5.7% (n=34), exposure in 5.4% (n=32), contrast in 4.2% (n=25), sharpness in 2.7% (n=16), compression in 2.5% (n=15), artifacts in 2.5% (n=15), and noise in 0.3% (n=2). CONCLUSION: This study showed that in Korea, 36.3% of the mammograms examined in this sampling had important image-related defects that might have led to serious errors in patient management. The failure rate was significantly higher in non-radiology clinics and at The Society for Medical Examination than at university hospitals.
Artifacts ; Hospitals, General ; Hospitals, University ; Humans ; Korea ; Mammography ; Noise

OBJECTIVES: Obstructive sleep apnea-hypopnea syndrome (OSAHS) and insomnia are two of the most common sleep disorders in the general population. Because OSAHS patients with insomnia may have difficulty in adapting to the sleep breathing medical equipment, it is necessary to pay special attention to the diagnosis and treatment of comorbid insomnia. This study is to investigate the emotion and personality in OSAHS patients with insomnia complaints by using Minnesota Multiphasic Personality Inventory-2 (MMPI-2). METHODS: We reviewed the results of the standardized questionnaires assessing sleep-related variables, MMPI, and polysomnographic findings of the patients diagnosed as OSAHS. RESULTS: 145 subjects were 49.05+/-11.83 years of age. The mean Respiratory Disturbance Index was 33.57+/-19.91 and the mean score of Insomnia Severity Index (ISI) was 11.52+/-6.49. The mean scores of the Beck Depression Inventory (BDI) and MMPI-2 were within normal ranges. We divided the patients into two groups based on the scores of the ISI, OSAHS with insomnia (n=109) and OSAHS without insomnia (n=36). OSAHS patients with insomnia symptoms had significantly higher scores of hypochondriasis, hysteria, psychasthenia, schizophrenia, paranoia and psychopathic deviate scales and BDI than those without insomnia. CONCLUSIONS: Our results suggest that insomnia complaints are very common in OSAHS patients and the psychological problems are more frequently found in OSAHS patients with insomnia symptom than those without it.
Depression ; Diagnosis ; Humans ; Hypochondriasis ; Hysteria ; Minnesota* ; MMPI* ; Paranoid Disorders ; Polysomnography ; Reference Values ; Respiration ; Schizophrenia ; Sleep Apnea, Obstructive* ; Sleep Wake Disorders ; Sleep Initiation and Maintenance Disorders* ; Weights and Measures

PURPOSE: The purpose of this study was to establish a quality standard for mammographic equipment in Korea and to eventually improve mammographic quality in clinics and hospitals throughout Korea by educating technicians and clinic personnel. MATERIALS AND METHODS: For the phantom test and on site assessment, we visited 37 sites and examined 43 sets of mammographic equipment. Items that were examined include phantom test, radiation dose measurement, developer assessment, etc. The phantom images were assessed visually and by optical density measurements. For the clinical image assessment, clinical images from 371 sites were examined following the new Korean standard for clinical image evaluation. The items examined include labeling, positioning, contrast, exposure, artifacts, collimation among others. RESULTS: Quality standard of mammographic equipment was satisfied in all equipment during on site visits. Average mean glandular dose was 114.9 mRad. All phantom image test scores were over 10 points (average, 10.8 points). However, optical density measurements were below 1.2 in 9 sets of equipment (20.9%). Clinical image evaluation revealed appropriate image quality in 83.5%, while images from non-radiologist clinics were adequate in 74.6% (91/122), which was the lowest score of any group. Images were satisfactory in 59.0% (219/371) based on evaluation by specialists following the new Korean standard for clinical image evaluation. Satisfactory images had a mean score of 81.7 (1 S.D.=8.9) and unsatisfactory images had a mean score of 61.9 (1 S.D=11). The correlation coefficient between the two observers was 0.93 (p<0.01) in 49 consecutive cases. CONCLUSION: The results of the phantom tests suggest that optical density measurements should be performed as part of a new quality standard for mammographic equipment. The new clinical evaluation criteria that was used in this study can be implemented with some modifications for future mammography quality control by the Korean government.
Artifacts ; Korea ; Mammography ; Quality Control ; Specialization

Purpose: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. Materials and Methods: This study was conducted as a secondary analysis of data obtained during a multicenter prospective cohort study that investigated the cost-effectiveness of prenatal testing for fetal aneuploidy. We analyzed the prenatal detection rate and accuracy for CHD screening via ultrasound during the second trimester, as well as associations between serum biomarkers and CHDs, in singleton newborns without chromosomal abnormalities. Results: Among 6715 women, 142 (2.1%) newborns were born with CHDs, of which 67 (1.0%) newborns had major CHDs. The prenatal detection rate for all CHDs and major CHDs were 34.5% and 58.2%, respectively. After excluding isolated ventricular septal defects, the detection rate for critical CHDs was 85.9%. Women with low pregnancy-associated plasma protein A (PAPP-A) (<0.4 multiples of the median, MOM) face increased risks of non-chromosomal CHDs [adjusted odds ratio (aOR) 2.76; 95% confidence interval (CI) 1.36–5.13] and major CHDs (aOR 7.30; 95% CI 3.18–15.59), compared to those without CHDs. A higher inhibin A level (≥2.5 MOM; aOR 4.84; 95% CI 1.42–12.46) was associated with non-chromosomal major CHDs. Conclusion Ultrasonography performed during the second trimester by obstetricians detected over 85% of critical CHDs. Low maternal serum PAPP-A or high inhibin-A was associated with non-chromosomal CHDs. These results may contribute to an improvement in prenatal diagnosis of CHDs.