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

Ultrasonographic and radiographic findings in 72 cases of pelvic masses which have been provedhistopathologically were analyzed. The results were as follows; 1. Among 72 cases, 28 cases were uterine massesand 44 cases were adnexal masses. 2. Pathologic accuracies of ultrasonographic diagnosis were 64.3% in uterinemasses, 70.5% in adnexal masses, and 68.1% in all pelvic masses. 3. Plain or IVP findings were not specific indiagnosis and showed secondary mass effects or functional disturbances. 4. Because of its high accuracy ofpathologic diagnosis and safety, ultrasonography can be regared as the most valuable and preferential study. Butin cases of cystic myomas, endometrioses, cystic missed abortions and huge masses, the accurate diagnoses weredifficult.
Abortion, Missed ; Diagnosis ; Endometriosis ; Female ; Myoma ; Pregnancy ; Ultrasonography

During 1st and 2nd trimester, placenta accreta is rarely found and is not easy to diagnosis during these trimester. From time to time placenta accreta is found after induced abortion or spontaneous abortion. We had experienced a case of placenta increta which was found about 50 days after D&C due to missed abortion at local clinic. So we presented it with a brief case history and brief review of the concerned literatures.
Abortion, Induced* ; Abortion, Missed ; Abortion, Spontaneous ; Diagnosis ; Dilatation and Curettage ; Female ; Humans ; Placenta Accreta* ; Placenta* ; Pregnancy

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*

Thirty-four patients with suspected ectopic pregnancy whose serum hCG levels had been measured by beta-hCG EIA before surgery were evaluated retrospectively. The results were as follows: 1. Final diagnosis of thirty- four patients with suspected ectopic pregnancy comprised twenty-eight tubal pregnancy, five ruptures of hemorrhagic corpus luteum and one tubo-ovarian abscess. One of the five patients with rupture of hemorrhagic corpus luteum was accompanied by missed abortion. 2. Range of serum hCG levels in twenty-eight patients with tubal pregnancy was 59-21, 980 mIU/ml and that of four patients with rupture of hemorrhagic corpus luteum and one patient with tubo-ovarian abscess was 0.6-6.6 mIU/ml. Serum hCG level of a patient with rupture of hemorrhagic corpus luteum who was accompanied by missed abostion was 200 mIU/ml. 3. Serum hCG levels in twenty-two of twenty-eight patients with tubal pregnancy were lower than 3,000 mIU/ml. Low serum hCG level below 100 mIU/ml and high serum hCG levl above 6,500 mIU/ml were noticed in four and six patients with tubal pregnancy recpectively. 4. Mean serum hCG levels (±SD) of twelve patients with tubal pregnancy who had intraabdominal free blood of less than 500ml and sixteen patients with tubal pregnancy who had intraabdominal free blood of more than 500ml were 4,131 (±7,801) mIU/ml and 3,208 (±5,081) mIU/ml, respectively. There was no statistical difference in the mean level of serum hCG between both group (P>0.05). 5. Mean serum hCG levels (±SD) of thirteen patients with unruptured tubal pregnancy and fifteen patients with ruptured tubal pregnancy were 2,628 (±5,448) mIU/ml and 4,449 (±6,938) mIU/ml, respectively. Mean level of serum hCG was statistically higher in ruptured tubal pregnancy (P<0.01). 6. Positive rate of urine pregnancy test in the diagnosis of ectopic pregnancy was 64% (16/25) and mean range of serum hCG level of nine patients with false negative result were 353 mIU/ml and 59­933 mIU/ml.
Abortion, Missed ; Abscess ; Corpus Luteum ; Diagnosis ; Female ; Humans ; Pregnancy ; Pregnancy Tests ; Pregnancy, Ectopic* ; Pregnancy, Tubal ; Retrospective Studies ; Rupture

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

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

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*

OBJECTIVE: We performed this study to evaluate the clinical appearance of ovarian timor in pregnancy. MATERIALS AND METHODS: From January 1995 to December 2000, a review was performed 51 cases of ovarian tumors in pregnancy. The diagnosis of ovarian tumor was confirmed by pathologist after operation. RESULTS: 1. The incidence of ovarian tumors in pregnancy was 51 in 11,056 deliveries (1:217). Five cases of borderline malignancy and one case of granulosal cell tumor were reported. 2. The ovarian tumors were the most common between 30 and 34 years of age pregnant women (35.5%) and more common in multiparous women than in nulliparous women. 3. As to the initial chief complaints, no symptoms and sign were in 36 cases (70.6%) low abdominal pain and discomfort were in 6 cases (11.8%) palpable mass were found in 2 cases (3.9%). 4. 53% of patients was diagnoses in the third trimester, 33.3% of patients in the first trimester, 13.7% of patients in the second trimester. 5. Excluding the 27 cases of incidental operation during cesarean section, operation was performed at first trimester in 4 cases (16.7%), at second trimester in 9 cases (37.5%), after conservative management operation during cesarean section was performed at third trimester in 11 cases (45.8%). 6. Complication resulting ovarian tumors occurred in one case of torsion. 7. According to histologic type, there were 15 cases (29.4%) of benign cystic teratoma, 13 cases (23.5%) of mucinous cystadenoma, 8 cases (15.7%) of serous cystadenoma, 4 cases (7.7%) of corpus luteal cyst, 5 cases (9.8%) of mucinous cystic tumor borderline malignancy, 1 case (2%) of granulosal cell tumor. 8. According to effects on pregnancy, among 13 cases in which the ovarian tumor was removed, vaginal delivery occurred at term in 6 cases (46.1%), cesarean section at term in 4 case (30.8%), missed abortion in 1 case (7.7%), preterm delivery in 2 cases (15.4%). 11 cases in which was performed conservative management were done cesarean section at term. CONCLUSION: The incidence of benign and malignant ovarian tumor in pregnancy and is being increased. Considering effects on pregnancy and pregnant women of treatment method, appropriate timing and treatment method should be chosen.
Abdominal Pain ; Abortion, Missed ; Cesarean Section ; Cystadenoma, Mucinous ; Cystadenoma, Serous ; Diagnosis ; Female ; Humans ; Incidence ; Indonesia ; Mucins ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Pregnancy* ; Pregnant Women ; Teratoma

OBJECTIVE: Approximately 15-20% of all clinically recognized pregnancies result in spontaneous abortion and 60-70% of these are attributable to detectable chromosome abnormalities. Although the incidence of first trimester losses is high, spontaneous abortion material is often poorly described from a development perspective. The purpose of this study was to determine the usefulness of transcervical embryoscopy in diagnosing localized and generalized defects in the embryonic morphogenesis of missed abortions. The embryoscopic findings are supplemented by the results of cytogenetic analysis in all cases. METHODS: In this study, consisted of 26 women with the final diagnosis of missed abortion between August 1, 2003 and October 31, 2003 in Samsung Cheil Hospital. Prior to the instrumental evacuation of the uterus a rigid hysteroscope was passed transcervically into the amniotic cavity to obtain a detail view of the embryo. Karyotyping was done in all cases included in this study. RESULTS: Visualization of embryo or early fetus was successful in 24 cases. Among 24 examined cases, 21 cases had successful karyotype and as a result 11 (11/21, 52.4%) had abnormal karyotype. Among 21 cases which had successful karyope, 4 (4/21, 19.0%) had normal external features, 10 (10/21, 47.6%) had classified as growth-disorganized and 7 (7/21, 33.3%) had either isolated or multiple defects, including facial dysplasia, delayed limb development, facial fusion to chest, umbilical cyst, brownish discoloration of ventral part and increased nuchal thickness. Of the morphologically normal and growth-disorganized embryo in embryoscopic examination, only 1 and 4 (1/4, 25.0% and 4/10, 40.0%) had a abnormal karyotype. In contrast, of the morphologically abnormal embryo in embryoscopic examination, 5 (5/7, 71.4%) had a abnormal karyotype. CONCLUSION: Transcervical embryoscopy permits visualization of the embryo in utero, unaffected by the damage usually caused by its instrumental evacuation or spontaneous passage. This technique can be a helpful tool for understanding human embryonic malformations and genetic counseling for parents. Futhermore, correlation of morphological and cytogenetic findings in spontaneous abortion specimens could provide the need of further evaluation for future pregnancies in couples which had fear of repeated abortions. But, more larger scaled controlled study is needed for widely use of transcervical embryoscopy in missed abortion.
Abnormal Karyotype ; Abortion, Missed* ; Abortion, Spontaneous ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Embryonic Structures ; Extremities ; Family Characteristics ; Female ; Fetoscopy* ; Fetus ; Genetic Counseling ; Humans ; Hysteroscopes ; Incidence ; Karyotype ; Karyotyping ; Morphogenesis ; Parents ; Pregnancy ; Pregnancy Trimester, First ; Thorax ; Urachal Cyst ; Uterus