Objectives: To analyze the reasons of missed diagnosis or misdiagnosis on anomalous origin of left coronary artery from pulmonary artery (ALCAPA) by echocardiography. Methods: This is a retrospective study. Patients with ALCAPA who underwent surgical treatment in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from August 2008 to December 2021 were included. According to the results of preoperative echocardiography and surgical diagnosis, the patients were divided into confirmed group or missed diagnosis/misdiagnosis group. The results of preoperative echocardiography were collected, and the specific echocardiographic signs were analyzed. According to the experience of the doctors, the echocardiographic signs were divided into four types, namely clear displayed, vague/doubtful displayed, no display and no notice, and the display rate of each sign was calculated (display rate=number of clearly displayed cases/total number of cases×100%). By referring the surgical data, we analyzed and recorded the pathological anatomy and pathophysiological characteristics of the patients, and the rate of missed diagnosis/misdiagnosis of echocardiography in patients with different characteristics was compared. Results: A total of 21 patients were enrolled, including 11 males, aged 1.8 (0.8, 12.3) years (range 1 month to 47 years). Except for one patient with anomalous origin of left anterior descending artery, the others were all originated from the main left coronary artery (LCA). There were 13 cases of ALCAPA in infant and children, and 8 cases of adult ALCAPA. There were 15 cases in the confirmed group (diagnostic accuracy was 71.4% (15/21)), and 6 cases in the missed diagnosis/misdiagnosis group (three cases were misdiagnosed as primary endocardial fibroelastosis, two cases were misdiagnosed as coronary-pulmonary artery fistula; and one case was missed diagnosis). The working years of the physicians in the confirmed group were longer than those in the missed diagnosis/misdiagnosed group ((12.8±5.6) years vs. (8.3±4.7) years, P=0.045). In infants with ALCAPA, the detection rate of LCA-pulmonary shunt (8/10 vs. 0, P=0.035) and coronary collateral circulation (7/10 vs. 0, P=0.042) in confirmed group was higher than that in missed diagnosis/misdiagnosed group. In adult ALCAPA patients, the detection rate of LCA-pulmonary artery shunt was higher in confirmed group than that in missed diagnosis/misdiagnosed group (4/5 vs. 0, P=0.021). The missed diagnosis/misdiagnosis rate of adult type was higher than that of infant type (3/8 vs. 3/13, P=0.410). The rate of missed diagnosis/misdiagnosis was higher in patients with abnormal origin of branches than that of abnormal origin of main trunk (1/1 vs. 5/21, P=0.028). The rate of missed diagnosis/misdiagnosis in patients with LCA running between the main and pulmonary arteries was higher than that distant from the main pulmonary artery septum (4/7 vs. 2/14, P=0.064). The rate of missed diagnosis/misdiagnosis in patients with severe pulmonary hypertension was higher than that in patients without severe pulmonary hypertension (2/3 vs. 4/18, P=0.184). The reasons with an echocardiography missed diagnosis/misdiagnosis rate of≥50% included that (1) the proximal segment of LCA ran between the main and pulmonary arteries; (2) abnormal opening of LCA at the right posterior part of the pulmonary artery; (3) abnormal origin of LCA branches; (4) complicated with severe pulmonary hypertension. Conclusions: Echocardiography physicians' knowledge of ALCAPA and diagnostic vigilance are critical to the accuracy of diagnosis. Attention should be paid to the pediatric cases with no obvious precipitating factors of left ventricular enlargement, regardless of whether the left ventricular function is normal or not, the origin of coronary artery should be routinely explored.
Male ; Adult ; Infant ; Child ; Humans ; Bland White Garland Syndrome/diagnostic imaging* ; Pulmonary Artery/diagnostic imaging* ; Retrospective Studies ; Missed Diagnosis ; Hypertension, Pulmonary ; Echocardiography ; Coronary Vessel Anomalies/diagnostic imaging*

Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.
Humans ; Missed Diagnosis ; Genetic Testing ; Educational Status ; Diagnosis, Differential ; Genotype

Acromioclavicular Joint/diagnostic imaging* ; Clavicle/diagnostic imaging* ; Fracture Fixation, Internal ; Fractures, Bone/surgery* ; Humans ; Joint Dislocations/diagnostic imaging* ; Missed Diagnosis

OBJECTIVE: This study was conducted to determine the effectiveness and safety of medical treatment with sublingual misoprostol (MS) in the 1st trimester miscarriage under the approval by Health Insurance Review and Assessment Service (HIRA) for off-label usage by the single medical center in Korea. METHODS: A retrospective cohort study was performed in one institution between April 2013 and June 2016. Ninety-one patients diagnosed with miscarriage before 14 weeks of gestation and wanted to try medical treatment were included. A detailed ultrasound scan was performed to confirm the diagnosis. Patients took 600 microgram (mcg) of MS sublingually at initial dose, and repeated the same dose 4–6 hours apart. Successful medical abortion was defined as spontaneous expulsion of gestational products (including gestational sac, embryo, fetus, and placenta). If gestational products were not expelled, surgical evacuation was performed at least 24 hours later from the initial dose. Information about side effects was obtained by medical records. RESULTS: About two-thirds of patients had a successful outcome. The median interval time from pill to expulsion was 18 hours in the successful medical treatment group. There was no serious systemic side effect or massive vaginal bleeding. Presence or absence of vaginal spotting before diagnosis of miscarriage, uterine leiomyomas, subchorionic hematoma, or distorted shape of gestational sac on ultrasound scan were not statistically different between the two groups. CONCLUSION: Medical treatment with sublingual MS can be a proper option for the 1st trimester miscarriage, especially for the patient who want to avoid surgical procedure. We can reduce the unnecessary sedation or surgical intervention in the patients with the 1st trimester miscarriage.
Abortion, Incomplete ; Abortion, Missed ; Abortion, Spontaneous* ; Administration, Sublingual ; Cohort Studies ; Diagnosis ; Embryonic Structures ; Female ; Fetus ; Gestational Sac ; Hematoma ; Humans ; Insurance, Health ; Korea* ; Leiomyoma ; Medical Records ; Metrorrhagia ; Misoprostol* ; Off-Label Use* ; Pregnancy ; Retrospective Studies ; Ultrasonography ; Uterine Hemorrhage

PURPOSE: This study investigated the possible relationship between viral infection and first trimester pregnancy loss. MATERIALS AND METHODS: A prospective study was performed on 51 gravidas with missed abortion, fetal anomaly, pre-term delivery, and full-tem delivery at Hanyang University Hospital. Enteroviruses were detected by semi-nested reverse transcription-polymerase chain reaction (RT-PCR) and immunohistochemistry in abortive tissues and placentas. Enterovirus serotypes were confirmed by genome sequencing. Herpesviruses were detected by PCR. RESULTS: Coxsackievirus B3 (CVB3) was detected in 8 of 14 missed abortion cases, 1 of 27 full-term cases, and none of the 9 pre-term cases. Coxsackievirus B1 (CVB1) was detected in an encephalocele case. Herpes simplex virus type 1 was found in 4 full-term cases, 3 pre-term cases, and none of the missed abortion cases. CONCLUSION: The prevalence of CVB3 was significantly higher in missed abortion cases compared to full-term or pre-term delivery cases. CVB infection may therefore be an important etiological agent of missed abortion.
Abortion, Missed/*etiology ; Adult ; Coxsackievirus Infections/complications/*diagnosis/virology ; Enterovirus B, Human/genetics/*isolation & purification ; Female ; Humans ; Immunohistochemistry ; Placenta/virology ; Pregnancy ; Pregnancy Complications, Infectious/*virology ; Pregnancy Trimester, First ; Prevalence ; Prospective Studies ; Republic of Korea ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Uterus/*virology

OBJECTIVE: The purpose of this study was to evaluate the pregnancy outcomes of heterotopic pregnancy. METHODS: Retrospective analysis was done in 24 patients who were diagnosed as heterotopic pregnancy between January 2000 and April 2008. Patients' characteristics, risk factors, treatment methods and pregnancy outcomes were evaluated. RESULTS: A total of 24 patients were diagnosed as heterotopic pregnancy, all of these had undergone assisted reproductive technique. The mean age was 31.5 years and the mean gestational age at diagnosis was about 8 weeks. The most common etiology of infertility was tubal factor (54.2%). Four (16.7%) of the women had undergone ovulation induction, eighteen (75%) had undergone in vitro fertilization, but 2 patients (8.3%) had undergone assisted reproductive technique at other hospital and we didn't know the exact method. The most common of ectopic site was tube (75%), and 50% of ectopic sites were ruptured status at diagnosis. Three (12.5%) of 24 patients were diagnosed ectopic pregnancy after dilatation and evacuation due to missed abortion, 4 (16.7%) were diagnosed ectopic pregnancy and missed abortion, and 17 (70.8%) were diagnosed ectopic pregnancy and living intrauterine pregnancy at the time of diagnosis. Laparotomy was done in 3 patients (12.5%) and laparoscopy was done in 21 patients (87.5%). Among 17 patients who had normal intrauterine pregnancy, 12 (70.6%) delivered singletones, 2 (11.8%) delivered twins, but 3 (17.6%) patients were lost follow up. CONCLUSION: Heterotopic pregnancy should be considered in pregnant woman with abdominal pain or vaginal bleeding, although confirmed normal intrauterine pregnancy using ultrasonography at early gestational age, especially if the woman have treatment history for infertility. And early diagnosis and proper management are important.
Abdominal Pain ; Abortion, Missed ; Dilatation ; Early Diagnosis ; Female ; Fertilization in Vitro ; Follow-Up Studies ; Gestational Age ; Humans ; Infertility ; Laparoscopy ; Laparotomy ; Ovulation Induction ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Ectopic ; Pregnancy, Heterotopic ; Pregnant Women ; Reproductive Techniques, Assisted ; Retrospective Studies ; Risk Factors ; Twins ; Uterine Hemorrhage

OBJECTIVE: The purpose of this study was to evaluate the pregnancy outcomes of heterotopic pregnancy. METHODS: Retrospective analysis was done in 24 patients who were diagnosed as heterotopic pregnancy between January 2000 and April 2008. Patients' characteristics, risk factors, treatment methods and pregnancy outcomes were evaluated. RESULTS: A total of 24 patients were diagnosed as heterotopic pregnancy, all of these had undergone assisted reproductive technique. The mean age was 31.5 years and the mean gestational age at diagnosis was about 8 weeks. The most common etiology of infertility was tubal factor (54.2%). Four (16.7%) of the women had undergone ovulation induction, eighteen (75%) had undergone in vitro fertilization, but 2 patients (8.3%) had undergone assisted reproductive technique at other hospital and we didn't know the exact method. The most common of ectopic site was tube (75%), and 50% of ectopic sites were ruptured status at diagnosis. Three (12.5%) of 24 patients were diagnosed ectopic pregnancy after dilatation and evacuation due to missed abortion, 4 (16.7%) were diagnosed ectopic pregnancy and missed abortion, and 17 (70.8%) were diagnosed ectopic pregnancy and living intrauterine pregnancy at the time of diagnosis. Laparotomy was done in 3 patients (12.5%) and laparoscopy was done in 21 patients (87.5%). Among 17 patients who had normal intrauterine pregnancy, 12 (70.6%) delivered singletones, 2 (11.8%) delivered twins, but 3 (17.6%) patients were lost follow up. CONCLUSION: Heterotopic pregnancy should be considered in pregnant woman with abdominal pain or vaginal bleeding, although confirmed normal intrauterine pregnancy using ultrasonography at early gestational age, especially if the woman have treatment history for infertility. And early diagnosis and proper management are important.
Abdominal Pain ; Abortion, Missed ; Dilatation ; Early Diagnosis ; Female ; Fertilization in Vitro ; Follow-Up Studies ; Gestational Age ; Humans ; Infertility ; Laparoscopy ; Laparotomy ; Ovulation Induction ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Ectopic ; Pregnancy, Heterotopic ; Pregnant Women ; Reproductive Techniques, Assisted ; Retrospective Studies ; Risk Factors ; Twins ; Uterine Hemorrhage

OBJECTIVES: The aim of this study was to evaluate the clinicopathologic characteristics of malignant germ cell tumors of ovary. METHODS: Thirty five patients who were dignosed as malignant germ cell tumors of ovary and treated in Cheil General Hospital from January 1995 to December 2003, were retrospectively analyzed. The age, chief complaints, histologic type, tumor marker, FIGO stage, maximal tumor diameter, management, survival and future pregnancy outcome were reviewed. RESULTS: The mean age was 23.4 years (8-34) and 2 patients were premenarche. The mean follow-up period was 59.6 months (16-118). Palpable lower abdominal mass and pain were the most frequent symptoms. Preoperative CA125 were checked in 32 patients and elevated in 23 patients . The tumors were ranging from 7cm to 27cm in diameter (mean : 16.6). The site of tumors was right-sided in 17(48.6%), left-sided in 15(42.9%), and bilateral in 3(8.6%) which were dysgerminomas only. Post-surgical FIGO stage was stage I in 28 cases (80.0%), stage II in 4 cases (11.4%), and stage III in 3 cases (8.6%). Histologically, immature teratomas were found most frequently (n=14, 40.0%), followed by dysgerminoma (n=10, 28.6%), endodermal sinus tumor (n=9, 25.7%), and mixed form (n=2, 5.7%). Unilateral salpingo-oophorectomy was performed in 9, cystectomy in 4, and staging operation in 22, which included 16 patients of fertility sparing operation. Postoperative chemotherapy was administered in 30 and most were BEP except one TIP. Two patients had recurred, who were stage Ic and IIIb EST at diagnosis and expired at 59 and 16 months after first operation. Recurrence rate was 5.7% and 5-year survival rate was 94.7%. During follow-up period, 8 patients were pregnant and the results were 4 normal deliveries at term, 1 missed abortion, 1 therapeutic abortion due to acne medication, 1 H-mole and 1 current pregnant state at 20 weeks without problem. CONCLUSION: These results shows that most malignant germ cell tumors of ovary is detected in early stage and have relatively excellent survival with conservative operation and combination chemotherapy.
Abortion, Missed ; Abortion, Therapeutic ; Acne Vulgaris ; Cystectomy ; Diagnosis ; Drug Therapy ; Drug Therapy, Combination ; Dysgerminoma ; Endodermal Sinus Tumor ; Female ; Fertility ; Follow-Up Studies ; Germ Cells* ; Hospitals, General ; Humans ; Neoplasms, Germ Cell and Embryonal* ; Ovary* ; Pregnancy ; Pregnancy Outcome ; Recurrence ; Retrospective Studies ; Survival Rate ; Teratoma

Imaging studies, notably ultrasound or MRI may aid in clinical evaluation. However, in some circumstances such imaging studies can be misleading. Here we are reporting with a brief review, an experienced case where uterine submucosal myoma with cystic degeneration is successfully diagnosed and treated with hysteroscopy.
Abortion, Missed* ; Diagnosis* ; Female ; Hysteroscopy ; Magnetic Resonance Imaging ; Myoma* ; Pregnancy ; Ultrasonography*

Placenta increta is a life-threatening complication of pregnancy characterized by invasion of placenta villi into the underlying myometrium. Usually, presentation is in the early postpartum period with hemorrhage during difficult placental removal. Although placenta increta may complicate first and early second-trimester pregnancy loss, this lesion is rarely found, whose diagnosis can be very difficult during these trimester. We had experienced a case of placenta increta which was found about 14 days after dilatation and curettage (D and C) due to missed abortion at private obstetrics' clinic and report this with brief reviewed the literatures.
Abortion, Missed ; Animals ; Diagnosis ; Dilatation and Curettage ; Female ; Hemorrhage* ; Humans ; Mice ; Myometrium ; Placenta Accreta* ; Placenta* ; Postpartum Period ; Pregnancy ; Pregnancy Trimester, First