ABSTRACT
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared. RESULTS: A total of 383 pregnant women underwent QF-PCR and LTC via CVS during the study period and 403 CVS specimens were collected. The indications of CVS were as follows: abnormal first-trimester ultrasonographic findings, including increased fetal nuchal translucency (85.1%), advanced maternal age (6.8%), previous history of fetal anomalies (4.2%), and positive dual test results for trisomy 21 (3.9%). The results of QF-PCR via CVS were as follows: 76 (18.9%) cases were identified as trisomy 21 (36 cases), 18 (33 cases), or 13 (seven cases), and 4 (1.0%) cases were suspected to be mosaicism. All results of common autosomal trisomies by QF-PCR were consistent with those of LTC and there were no false-positive findings. Four cases suspected as mosaicism in QF-PCR were confirmed as non-mosaic trisomies of trisomy 21 (one case) or trisomy 18 (three cases) in LTC. CONCLUSION: QF-PCR via CVS has the advantage of rapid prenatal screening at an earlier stage of pregnancy for common chromosomal trisomies and thus can reduce the anxiety of parents. In particular, it can be helpful for pregnant women with increased fetal nuchal translucency or abnormal first-trimester ultrasonographic findings.
Subject(s)
Female , Humans , Pregnancy , Aneuploidy , Anxiety , Chorion , Chorionic Villi Sampling , Chorionic Villi , Cytogenetic Analysis , Diagnosis , Down Syndrome , Fluorescence , Hospitals, General , Maternal Age , Medical Records , Mosaicism , Nuchal Translucency Measurement , Parents , Polymerase Chain Reaction , Pregnant Women , Prenatal Diagnosis , Retrospective Studies , TrisomyABSTRACT
Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.
Subject(s)
Humans , Infant, Newborn , Pregnancy , Alleles , Genetic Counseling , Mortality , Mothers , Motor Activity , Muscle Hypotonia , Myotonic Dystrophy , Parents , Parturition , Postpartum Period , Premature Birth , Prenatal DiagnosisABSTRACT
PURPOSE: To evaluate the success rate following amnioinfusion in pregnant women undergoing external cephalic version (ECV) after initial failure. METHODS: This prospective study enrolled 17 consecutive pregnant women from October 2013 to May 2015. ECV was performed with amnioinfusion after initial failure. The success rates of ECV and vaginal delivery, including pregnancy outcomes, were analyzed. RESULTS: ECV was performed at an average of 37.3±0.6 weeks of gestational age. Eight of seventeen patients were nulliparous. The estimated fetal weight was 2,688±279 g, and the amniotic fluid index was 6.4±2.6 cm. The overall success rate of ECV was 70.6% (12/17), and the success rates in nulliparous and multiparous women were 75.0% (6/8) and 66.7% (6/9), respectively. The rate of emergent cesarean section within 24 hours was 11.8% (2/17). Excluding one women who were lost to follow-up, the rate of normal vaginal delivery was 81.8% (9/11) among the women who had successful ECV. We did not observe any complications such as uterine rupture, placental abruption, or intrauterine fetal death. CONCLUSION: Although ECV with amnioinfusion after initial failure might help increase the success rate of ECV, it needs to be further evaluated in larger studies.
Subject(s)
Female , Humans , Pregnancy , Abruptio Placentae , Amniotic Fluid , Breech Presentation , Cesarean Section , Fetal Death , Fetal Weight , Gestational Age , Lost to Follow-Up , Pregnancy Outcome , Pregnant Women , Prospective Studies , Uterine Rupture , Version, FetalABSTRACT
Central nervous system (CNS) toxicity has been reported in approximately 10-30% of patients receiving intravenous infusions of ifosfamide. Encephalopathy is a rare but serious CNS adverse reaction in these patients, and although usually transient and reversible, may cause persistent neurological dysfunction or death. Clinical features range from fatigue and confusion to coma and death. Although methylene blue can be used to treat ifosfamide-induced neurotoxicity, including encephalopathy, its mechanism of action remains poorly defined. We describe here two patients with recurrent epithelial ovarian cancer who experienced fatal encephalopathy following ifosfamide/mesna treatment.
Subject(s)
Humans , Brain Diseases, Metabolic , Central Nervous System , Coma , Fatigue , Ifosfamide , Infusions, Intravenous , Mesna , Methylene Blue , Neoplasms, Glandular and Epithelial , Ovarian NeoplasmsABSTRACT
Although paratubal cysts are well-characterized incidental findings, paratubal serous borderline tumors are very rare, with only one case report in the literature. We describe here a 27-year-old, nulliparous, married woman with a paratubal serous borderline tumor. The patient presented with a huge pelvic mass accompanied by flank pain and underwent paratubal cystectomy and fertility-sparing surgical staging procedures. Thirteen months after surgery, she delivered a healthy baby at term. She is well, without evidence of disease, 20 months after surgery. Because paratubal serous borderline tumors are very rare, their optimal management must be extrapolated from their ovarian counterparts.
Subject(s)
Adult , Female , Humans , Cystectomy , Flank Pain , Incidental Findings , Parovarian CystABSTRACT
OBJECTIVES: The objective of the present study was to determine the effects of the widely used combination hormone therapy, drospirenone and 17beta-estradiol on the blood pressure, body weight, lipid profiles, and major side effects in postmenopausal Korean women. METHODS: Four hundred seventeen menopausal patients who were being treated with drospirenone/17beta-estradiol at the Asan Medical Center between December 2007 and October 2010 underwent a retrospective chart review. One hundred twenty-five patients were divided into 2 groups based on blood pressure, as follows: group 1 (normal blood pressure, n = 76); and group 2 (stage 1 hypertension and pre-hypertension, n = 49). The systolic and diastolic blood pressure and the body weight were checked before the treatment, and 1, 2, 3, 6, 9, 12, 18 and 24 months after taking the medication. RESULTS: The median days of administration were 279. The combination of drospirenone and 17beta-estradiol had a blood pressure-lowering effect in groups 1 and 2. However, the body weight did not show a statistically significant change. Only the level of triglycerides decreased with time and the change was statistically significant. The low density lipoprotein (LDL)-cholesterol and triglycerides levels had a statistically significant decrease 18 months after the medication. The most common reasons for discontinuouing medication were vaginal spotting (28%), fear of side effects (27%), and ineffectiveness (26%). CONCLUSION: The combination of drospirenone/17beta-estradiol caused a decrease in systolic and diastolic blood pressure and the body weight showed no statistically significant decrease. Furthermore, triglycerides showed statistically significant decrease and there were no severe side effects of the medication reported.
Subject(s)
Female , Humans , Androstenes , Blood Pressure , Body Weight , Hormone Replacement Therapy , Hypertension , Lipoproteins , Menopause , Metrorrhagia , Prehypertension , Retrospective Studies , TriglyceridesABSTRACT
Primary malignant melanoma arising from the ovarian mature cystic teratoma is extremely rare, with only 31 cases have been described in the literature. It is one of the rarest forms of malignant transformation of ovarian mature cystic teratoma and usually develops unilaterally after menopause. Recently, we experienced a case of primary malignant melanoma arising from ovarian mature cystic teratoma in 71-year-old woman. The diagnosis was confirmed by positive immunohistochemical results of S-100 protein and HMB 45. Here we report the rare case with review of literature.
Subject(s)
Aged , Female , Humans , Melanoma , Menopause , S100 Proteins , TeratomaABSTRACT
Pseudo-Meigs' syndrome is a syndrome that includes hydrothorax and ascites secondary to ovarian tumors other than solid benign fibroma. In this report, we present the case of a 29-years-old female who complained of abdominal distension with peripheral edema during her third trimester. Two solid masses of 15 cm dimension in the left abdomen and 7 cm dimension in the right abdomen were detected by ultrasound and chest X-ray revealed right pleural effusion. Magnetic resonance imaging (MRI) confirmed the ovarian masses and ascites. As the patient had regular uterine contractions, we decided to perform emergency cesarean section because of previous cesarean section history. A laparotomy was performed and pathologists confirmed the presence of a metastatic adenocarcinoma. Four days following the surgery, gastroduodenoscopy revealed a huge ulcerofungating mass was visible in greater curvature of stomach. The final diagnosis was metastatic adenocarcinoma from gastric cancer. Although pseudo-Meigs' syndrome is very rare, it should be carefully considered when evaluating female complaining with ascites in ovarian tumor.
Subject(s)
Female , Humans , Pregnancy , Abdomen , Adenocarcinoma , Ascites , Cesarean Section , Edema , Emergencies , Fibroma , Hydrothorax , Laparotomy , Magnetic Resonance Imaging , Pleural Effusion , Pregnancy Trimester, Third , Stomach , Stomach Neoplasms , Thorax , Uterine ContractionABSTRACT
OBJECTIVE: To investigate the clinical characteristics and reproductive outcomes of women with Mullerian anomalies. METHODS: One hundred and eighty-six patients were diagnosed with Mullerian anomalies at the Asan Medical Center from 1990 to 2009 and their clinical characteristics and reproductive outcomes were analyzed. Mullerian anomalies were categorized according to the classification by the American Fertility Society (1988). RESULTS: Mullerian anomaly was noticed in 1 in 1,326 patients (0.075%). Most cases were found in adulthood (84.9%) whereas only 15.1% cases in adolescent or pediatric period. More than 40% of cases were asymptomatic and found incidentally but others suffered from amenorrhea (12.4%), dysmenorrhea (10.8%), abnormal menstruation (10.2%), etc. Most common type of uterine anomalies was uterine didelphys (30.6%), followed by bicornuate uterus (19.4%), Mayer-Rokitansky-Kuster-Hauser syndrome (10.8%), septate uterus (9.1%) and unicornuate uterus (8.6%). On the reproductive outcomes of 251 pregnancies identified, spontaneous miscarriages and preterm labor were quite common (55.8%), and the overall live birth rate was 48.6%. When each anomaly was individually analyzed, the live birth rate was 60.0% in the arcuate uterus and 58.0% in the uterine didelphys. The unicornuate and bicornuate uterus presented a similar chance of having a living child (42.1%, 46.7%), while the septate uterus showed a relatively lower live birth rate (32.4%). CONCLUSION: Although most cases of Mullerian anomalies are diagnosed in adulthood, many patients may suffer from menstrual abnormalities, dysmenorrhea or recurrent miscarriages since adolescence. The reproductive outcomes of the arcuate uterus and uterine didelphys were better, while those of septate uterus were poor in our study.
Subject(s)
Adolescent , Child , Female , Humans , Pregnancy , Abnormalities, Multiple , Abortion, Habitual , Abortion, Spontaneous , Amenorrhea , Dysmenorrhea , Fertility , Kidney , Live Birth , Menstruation , Mullerian Ducts , Obstetric Labor, Premature , Somites , Spine , Urogenital Abnormalities , Uterus , VaginaABSTRACT
BACKGOUND: The late referral to nephrologist was founded as independent risk factor of poor survival in hemodialysis patients. Patients referred lately are prone to initiate dialysis urgently through temporary catheter and the use of catheter increase the incidence of catheter related complications. But patients' survival may be influenced by multiple and more complex factors beside referral pattern and use of catheter. So we planed to evaluate the effect of referral pattern on patients' survival and related factors. METHODS: This analysis included 629 incident hemodialysis patients in single center. Demographical, clinical, laboratory data were collected retrospectively. Early referral was defined as first nephrology visit over 3 months prior to initiation of dialysis. Clinical characteristics were compared between early (ER) and late referral groups (LR). Survival analysis and Cox models were performed to assess the relationship of referral pattern and mortality. Significant differences were defined as p value less than 0.05. RESULTS: ER included 269 patients and their mean age, male proportion were not different from those of LR. In ER, pre-dialysis education program and nutritional counseling were offered much more than LR and lesser catheter usage, higher serum albumin at the initiation of dialysis. ER survived longer but in Cox models, only older age, presence of diabetes, lower serum albumin at the initiation of dialysis were independent risk factor for death (odds ratio 1.047, 1.547, 0.615, respectively) CONCLUSION: Although early referral decrease catheter use at the initiation and urgent hemodialysis, classical risk factors such as old age, presence of diabetes, nutritional status at the initiation are more important in patients prognosis.