OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes. Cytosine-thymine-guanine (CTG) repeat expansion in the myotonic dystrophy protein kinase gene of both neonates and their mothers was also examined. RESULTS: None of mother was aware of their myotonic dystrophy traits before pregnancy. History of infertility followed by assisted reproductive technology accounted for 57.1% (4/7). Distinctive prenatal ultrasonographic finding was severe idiopathic polyhydramnios (66.7%, 4/6) with median amniotic fluid index of 43 (range, 37 to 66). In 37.5% (3/8) cases, decreased fetal movement was evident during prenatal ultrasound examination. For neonatal outcomes, more than half (6/11) were complicated with preterm birth and the proportion of 1-minute Apgar score <4 and 5-minute Apgar score <7 was 44.4% (4/9) and 66.7% (6/9), respectively. Most of neonates were admitted to the neonatal intensive care unit (9/10) because of hypotonia with respiratory problems and there was one infant death. Median number of cytosine-thymine-guanine repeats in mothers and neonates was 400 (range, 166 to 1,000) and 1,300 (range, 700 to 2,000), respectively. CONCLUSION: Our data suggest that severe idiopathic polyhydramnios with decreased fetal movement in pregnant women, especially with a history of infertility, requires differential diagnosis of congenital myotonic dystrophy.
Amniotic Fluid ; Apgar Score ; Diagnosis, Differential ; Female ; Fetal Movement ; Humans ; Infant Death ; Infant, Newborn ; Infertility ; Intensive Care, Neonatal ; Mothers ; Muscle Hypotonia ; Myotonic Dystrophy* ; Myotonin-Protein Kinase ; Polyhydramnios ; Pregnancy* ; Pregnant Women ; Premature Birth ; Prenatal Diagnosis ; Prevalence ; Reproductive Techniques, Assisted ; Ultrasonography

Pregnant women with antiphospholipid syndrome (APS) carry a high risk of arterial or venous thrombosis. Such thrombotic conditions occur more frequently in patients with triple positivity to antiphospholipid antibodies or with high antibody titers. Hepatic infarction is a rare complication in pregnant women with APS, and it sometimes mimics HELLP syndrome. This report describes a preeclamptic pregnant woman with APS who had high titers of three antiphospholipid antibodies. She experienced severe epigastric pain with elevated liver enzymes; in addition, she had tachycardia and tachypnea. The clinical findings suggested hepatic infarction and pulmonary thromboembolism, a partial manifestation of catastrophic APS. Therefore, she underwent emergent cesarean section at 25+2 weeks of gestation. After the delivery, her laboratory test indicated HELLP-like features, and computed tomography confirmed hepatic infarction and pulmonary micro-thromboembolism. Here, we report a case of a partial manifestation of catastrophic APS in a pregnant woman with triple antibody positivity, including a brief literature review.
Antibodies, Antiphospholipid ; Antiphospholipid Syndrome* ; Cesarean Section ; Female ; HELLP Syndrome ; Humans ; Infarction* ; Liver ; Pregnancy ; Pregnant Women* ; Pulmonary Embolism ; Tachycardia ; Tachypnea ; Venous Thrombosis

Pregnant women with antiphospholipid syndrome (APS) carry a high risk of arterial or venous thrombosis. Such thrombotic conditions occur more frequently in patients with triple positivity to antiphospholipid antibodies or with high antibody titers. Hepatic infarction is a rare complication in pregnant women with APS, and it sometimes mimics HELLP syndrome. This report describes a preeclamptic pregnant woman with APS who had high titers of three antiphospholipid antibodies. She experienced severe epigastric pain with elevated liver enzymes; in addition, she had tachycardia and tachypnea. The clinical findings suggested hepatic infarction and pulmonary thromboembolism, a partial manifestation of catastrophic APS. Therefore, she underwent emergent cesarean section at 25+2 weeks of gestation. After the delivery, her laboratory test indicated HELLP-like features, and computed tomography confirmed hepatic infarction and pulmonary micro-thromboembolism. Here, we report a case of a partial manifestation of catastrophic APS in a pregnant woman with triple antibody positivity, including a brief literature review.
Antibodies, Antiphospholipid ; Antiphospholipid Syndrome* ; Cesarean Section ; Female ; HELLP Syndrome ; Humans ; Infarction* ; Liver ; Pregnancy ; Pregnant Women* ; Pulmonary Embolism ; Tachycardia ; Tachypnea ; Venous Thrombosis

OBJECTIVE: To investigate the change of maternal characteristics, delivery and neonatal outcomes in gestational diabetes mellitus (GDM) over recent 10 years and to identify the risk factors associated with adverse outcome. METHODS: Consecutive GDM patients (n=947) delivered in our institution were included. Research period was arbitrarily divided into 2 periods (period 1: from 2006 to 2010, period 2: from 2011 to 2015). Multiple pregnancies or preexisting diabetes were excluded. Maternal baseline characteristics, delivery and neonatal outcomes were reviewed. Fetal biometric findings by prenatal ultrasonography were collected. Adverse pregnancy outcome (APO) was defined by the presence of one of the followings; shoulder dystocia, neonatal macrosomia (>4 kg), neonatal hypoglycemia (< 35 mg/dL), respiratory distress syndrome (RDS), and admission to the neonatal intensive care unit (NICU) in term pregnancy. RESULTS: Period 2 was associated with older maternal age (34 vs. 33, P < 0.001) and higher proportion of GDM A2 compared to period 1 (30.9% vs. 23.0%, P=0.009). By univariate analysis, APO was associated with increased body mass index (BMI) at pre-pregnancy (23.4 kg/m² vs. 21.8 kg/m², P=0.001) or delivery (27.9 kg/m² vs. 25.8 kg/m², P < 0.001), higher HbA1c at diagnosis (5.6% vs. 5.3%, P < 0.001) or delivery (5.8% vs. 5.5%, P=0.044), and larger fetal biometric findings (abdominal circumference [AC] and estimated fetal weight, P=0.029 and P=0.007, respectively). Multivariate analysis showed pre-pregnancy BMI (odds ratio [OR], 1.101; 90% confidence interval [CI], 1.028–1.180) and fetal AC (OR, 1.218; 90% CI, 1.012–1.466) were independently associated with adverse outcomes. CONCLUSION: Our study demonstrated the trends and relevant factors associated with the adverse outcomes.
Body Mass Index ; Diabetes, Gestational* ; Diagnosis ; Dystocia ; Female ; Fetal Macrosomia ; Fetal Weight ; Humans ; Hypoglycemia ; Infant, Newborn ; Intensive Care, Neonatal ; Maternal Age ; Multivariate Analysis ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Multiple ; Respiratory Distress Syndrome, Newborn ; Risk Factors* ; Shoulder ; Ultrasonography, Prenatal

Objective: We investigated prenatal sonographic characteristics of esophageal atresia (EA) with advancing gestation. We focused on the degree of polyhydramnios and the stomach shape. Methods: This study included 27 EA cases (EA group) and 81 idiopathic polyhydramnios cases (non-EA group). The non-EA group consisted of cases without any fetal structural anomaly, musculoskeletal disorder, chromosomal abnormality, or maternal diabetes. Both groups included only singleton pregnancies. Amniotic fluid index (AFI) and width/length (W/L) ratio as well as the product of width and length (W×L) of stomach were serially assessed during gestation and compared between the 2 groups. To predict EA using W/L ratio and W×L, receiver operating characteristic curve analysis was performed. Results: Polyhydramnios was evident in 77.8% of EA cases. We observed 25.9% and 22.2% EA cases with an absent stomach and a small visible stomach, respectively. After 28 weeks, the EA group manifested significantly higher AFI than the non-EA group. After 32 weeks, W/L ratio in the EA group tended to be lower than that in the non-EA group (32–36 weeks: 1.36 vs. 1.72, P=0.092; >36 weeks: 1.43 vs. 1.63, P=0.024). To predict EA, the calculated area under the curve for W/L ratio was 0.651 after 32 weeks. The diagnosis of EA using a cut-off value of W/L ratio <1.376 showed sensitivity, specificity, positive likelihood ratio, and negative likelihood ratio to be 84.6%, 52.9%, 1.796, and 0.081, respectively. Conclusion A low W/L ratio of stomach after 32 weeks with progressive idiopathic polyhydramnios may be used to predict EA.