Objective: To compare digital breast tomosynthesis (DBT) and MRI as an adjunct to full-field digital mammography (FFDM) for the preoperative evaluation of women with breast cancer based on mammographic density. Materials and Methods: This retrospective study enrolled 280 patients with breast cancer who had undergone FFDM, DBT, and MRI for preoperative local tumor staging. Three radiologists independently sought the index cancer and additional ipsilateral and contralateral breast cancers using either FFDM alone, DBT plus FFDM, or MRI plus FFDM. Diagnostic performances across the three radiologists were compared among the reading modes in all patients and subgroups with dense (n = 186) and non-dense breasts (n = 94) according to mammographic density. Results: Of 280 patients, 46 (16.4%) had 48 additional (39 ipsilateral and nine contralateral) cancers in addition to the index cancer. For index cancers, both DBT plus FFDM and MRI plus FFDM showed sensitivities of 100% in the non-dense group.In the dense group, DBT plus FFDM showed lower sensitivity than that of MRI plus FFDM (94.6% vs. 99.6%, p < 0.001). For additional ipsilateral cancers, DBT plus FFDM showed specificity and positive predictive value (PPV) of 100% in the non-dense group, but sensitivity and negative predictive value (NPV) were not statistically different from those of MRI plus FFDM (p > 0.05). In the dense group, DBT plus FFDM showed higher specificity (98.2% vs. 94.1%, p = 0.005) and PPV (83.1% vs. 65.4%;p = 0.036) than those of MRI plus FFDM, but lower sensitivity (59.9% vs. 75.3%; p = 0.049). For contralateral cancers, DBT plus FFDM showed higher specificity than that of MRI plus FFDM (99.0% vs. 96.7%, p = 0.014), however, the other values did not differ (all p > 0.05) in the dense group. Conclusion DBT plus FFDM showed an overall higher specificity than that of MRI plus FFDM regardless of breast density, perhaps without substantial loss in sensitivity and NPV in the diagnosis of additional cancers. Thus, DBT may have the potential to be used as a preoperative breast cancer staging tool.

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.

Purpose: Interest in unenhanced magnetic resonance imaging (MRI) screening for breast cancer is growing due to concerns about gadolinium deposition in the brain and the high cost of contrast-enhanced MRI. The purpose of this report is to describe the protocol of the Diffusion-Weighted Magnetic Resonance Imaging Screening Trial (DWIST), which is a prospective, multicenter, intraindividual comparative cohort study designed to compare the performance of mammography, ultrasonography, dynamic contrast-enhanced (DCE) MRI, and diffusion-weighted (DW) MRI screening in women at high risk of developing breast cancer. Methods A total of 890 women with BRCA mutation or family history of breast cancer and lifetime risk ≥ 20% are enrolled. The participants undergo 2 annual breast screenings with digital mammography, ultrasonography, DCE MRI, and DW MRI at 3.0 T. Images are independently interpreted by trained radiologists. The reference standard is a combination of pathology and 12-month follow-up. Each image modality and their combination will be compared in terms of sensitivity, specificity, accuracy, positive predictive value, rate of invasive cancer detection, abnormal interpretation rate, and characteristics of detected cancers. The first participant was enrolled in April 2019. At the time of manuscript submission, 5 academic medical centers in South Korea are actively enrolling eligible women and a total of 235 women have undergone the first round of screening. Completion of enrollment is expected in 2022 and the results of the study are expected to be published in 2026.Discussion: DWIST is the first prospective multicenter study to compare the performance of DW MRI and conventional imaging modalities for breast cancer screening in high-risk women. DWIST is currently in the patient enrollment phase.

Purpose: Interest in unenhanced magnetic resonance imaging (MRI) screening for breast cancer is growing due to concerns about gadolinium deposition in the brain and the high cost of contrast-enhanced MRI. The purpose of this report is to describe the protocol of the Diffusion-Weighted Magnetic Resonance Imaging Screening Trial (DWIST), which is a prospective, multicenter, intraindividual comparative cohort study designed to compare the performance of mammography, ultrasonography, dynamic contrast-enhanced (DCE) MRI, and diffusion-weighted (DW) MRI screening in women at high risk of developing breast cancer. Methods A total of 890 women with BRCA mutation or family history of breast cancer and lifetime risk ≥ 20% are enrolled. The participants undergo 2 annual breast screenings with digital mammography, ultrasonography, DCE MRI, and DW MRI at 3.0 T. Images are independently interpreted by trained radiologists. The reference standard is a combination of pathology and 12-month follow-up. Each image modality and their combination will be compared in terms of sensitivity, specificity, accuracy, positive predictive value, rate of invasive cancer detection, abnormal interpretation rate, and characteristics of detected cancers. The first participant was enrolled in April 2019. At the time of manuscript submission, 5 academic medical centers in South Korea are actively enrolling eligible women and a total of 235 women have undergone the first round of screening. Completion of enrollment is expected in 2022 and the results of the study are expected to be published in 2026.Discussion: DWIST is the first prospective multicenter study to compare the performance of DW MRI and conventional imaging modalities for breast cancer screening in high-risk women. DWIST is currently in the patient enrollment phase.

Axillary ultrasonography (US) is the most commonly used imaging modality for nodal evaluation in patients with breast cancer. No Axillary Surgical Treatment in Clinically Lymph Node-Negative Patients after Ultrasonography (NAUTILUS) is a prospective, multicenter, randomized controlled trial investigating whether sentinel lymph node biopsy (SLNB) can be safely omitted in patients with clinically and sonographically node-negative T1–2 breast cancer treated with breast-conserving therapy. In this trial, a standardized imaging protocol and criteria were established for the evaluation of axillary lymph nodes. Women lacking palpable lymph nodes underwent axillary US to dismiss suspicious nodal involvement.Patients with a round hypoechoic node with effaced hilum or indistinct margins were excluded. Patients with T1 tumors and a single node with a cortical thickness ≥ 3 mm underwent US-guided biopsy. Finally, patients with negative axillary US findings were included. The NAUTILUS axillary US nodal assessment criteria facilitate the proper selection of candidates who can omit SLNB.

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

PURPOSE: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. MATERIALS AND METHODS: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. RESULTS: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. CONCLUSION: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.
Chromosome Aberrations ; Congenital Abnormalities ; Counseling ; Diagnostic Tests, Routine ; Down Syndrome ; Female ; Humans ; Nuchal Translucency Measurement ; Pregnancy* ; Pregnant Women ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography*

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

Spontaneous cerebrospinal fluid (CSF) otorrhea is defined as CSF otorrhea where there are no identifiable causes including previous trauma, surgery, infection, neoplasm or congenital anomaly. The condition is rare. The origin of CSF leak is commonly a defect in the tegmen of the middle cranial fossa. The pathophysiology of spontaneous CSF otorrhea is unclear. Two theories of the etiology of bony defects of the temporal bone are the congenital bony defect theory and arachnoid granulation theory. The authors experienced a case of a 49-year-old female patient admitted with the complaint of persistent right ear fullness. Computed tomography revealed a large defect of the middle fossa and suspicious CSF otorrhea through the defect of tegmen tympani. Repair was successful with multiple bone chips using the transmastoid approach. The postoperative course was good and there has been no recurrence of the CSF leakage.
Arachnoid ; Cerebrospinal Fluid ; Cerebrospinal Fluid Otorrhea* ; Cranial Fossa, Middle* ; Ear ; Female ; Humans ; Middle Aged ; Recurrence ; Temporal Bone