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

In general, twin pregnancy represents a high-risk pregnancy. The monozygous twin of all twin pregnancy is a real challenge for the obstetrician due to the severe complications that may arise during its development. An extremely uncommon, severe complication of monozygous twin pregnancy, which we recently experienced in Soonchunhyang University Cheonan Hospital, was a monochorionic diamniotic twin pregnancy with acardiac twin-twin reversed arterial perfusion sequence. An acardiac twin presented no heart, underdeveloped inferior part of the body, being transfused by the other fetus (pumping twin) by umbilical vessels. We report a 33-year-old pregnant woman, with a history of in vitro fertilization-embryo transfer in the second pregnancy, who presented with generalized edema, abdominal discomfort, and high blood pressure at 33 weeks' gestation. By ultrasonography, one of the babies is normally developed but in the other baby, head, upper extremities, and cardiac activity cannot be detected. The pumping twin was cardiomegaly, polyhydramnios, absent diastolic wave on the umbilical artery, and small for gestational age. We decided to terminate the pregnancy by primary cesarean section after administration of corticosteroids. The comprehension of this case is compulsory in order to provide maximum survival opportunity to the viable baby.
Adrenal Cortex Hormones ; Adult ; Cardiomegaly ; Cesarean Section ; Chungcheongnam-do ; Comprehension ; Edema ; Female ; Fetus ; Gestational Age ; Head ; Heart ; Humans ; Hypertension ; In Vitro Techniques ; Perfusion* ; Polyhydramnios ; Pregnancy ; Pregnancy, High-Risk ; Pregnancy, Twin ; Pregnant Women ; Twins ; Ultrasonography ; Umbilical Arteries ; Upper Extremity

A 35-year-old pregnant woman visited our department and had been treated with 100 microg of daily oral levothyroxine for hypothyroidism. An ultrasonography screening was performed at 25 weeks gestation and revealed a fetal goiter and an increased amniotic fluid volume. Fetal hypothyroidism was confirmed by cordocentesis and amniotic hormone levels at 26 weeks gestation. We treated the mother with 200 microg of daily oral levothyroxine to optimize the transplacental transfer. A total of four intra-amniotic injections of levothyroxine were administered, resulting in progressive reduction in the fetal thyroid volume of goiter as measured by 3D ultrasonography and increased amniotic fluid volume. Following birth, neonatal serum thyroid stimulating hormone level was within the normal range, but free T4 was reduced. Based on this case, we suggest that monitoring amniotic fluid thyroid hormone concentration and intra-amniotic levothyroxine injection can be used to reduce the thyroid volume of goiters and to prevent polyhydramnios.
Adult ; Amniotic Fluid ; Cordocentesis ; Female ; Goiter* ; Humans ; Hypothyroidism ; Mass Screening ; Mothers ; Parturition ; Polyhydramnios ; Pregnancy ; Pregnant Women ; Reference Values ; Thyroid Gland ; Thyrotropin ; Thyroxine* ; Ultrasonography

Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6x6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition.
Chemotherapy, Adjuvant ; Diagnosis, Differential ; Drug Therapy ; Humans ; Hypertension ; Infant, Newborn ; Kidney ; Membranes ; Nephrectomy ; Nephroma, Mesoblastic* ; Neuroblastoma ; Polyhydramnios ; Pregnancy ; Prenatal Diagnosis* ; Rupture ; Ultrasonography ; Ultrasonography, Prenatal ; Wilms Tumor

Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control.
*Chromosome Deletion ; *Chromosome Duplication ; *Chromosome Inversion ; *Chromosomes, Human, Pair 4 ; Comparative Genomic Hybridization ; Female ; Gestational Age ; Humans ; Infant ; Pleural Effusion/ultrasonography ; Polyhydramnios/ultrasonography ; Pregnancy ; Wolf-Hirschhorn Syndrome/*genetics

Sacrococcygeal teratoma is often diagnosed by ultrasound in the prenatal period. The fetus may develop high-output heart failure due to limited cardiac pumping ability and anemia secondary to sequestration of blood volume in the tumor. Eventually, fetal hydrops or placentomegaly may develop and these complications carry a grave prognosis. Therefore, careful monitoring by serial USG is needed, and any evidence of fetal hydrops should trigger prompt delivery or fetal intervention. Recently, fetal MRI may be helpful in assessing the exact tumor size, content, and intraabdominal extent to optimize prenatal and postnatal management. We experienced a case sacrococcygeal teratoma diagnosed by prenatal ultrasonography and fetal MRI at 28 weeks of gestation. At 31 weeks of gestation, preterm labor with sudden aggravation of polyhydramnios developed, we delivered the baby by Cesarean section due to concerns about fetal dystocia by the mass. Tumor was removed successfully 6 days after birth, and was diagnosed as immature teratoma. Thirteen months after delivery, the infant is healthy without any evidence of recurrence. So we present this case with a brief review of literatures.
Anemia ; Blood Volume ; Cesarean Section ; Dystocia ; Female ; Fetus ; Heart Failure ; Humans ; Hydrops Fetalis ; Infant ; Magnetic Resonance Imaging* ; Obstetric Labor, Premature ; Parturition ; Polyhydramnios ; Pregnancy* ; Prognosis ; Recurrence ; Teratoma* ; Ultrasonography* ; Ultrasonography, Prenatal

PURPOSE: Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis and other clinical signs and symptoms. The aims of this study were to analyze the clinical manifestations and the short- and long-term outcomes of Bartter syndrome. METHODS: We retrospectively reviewed clinical history, laboratory finding of blood and urine, renal ultrasonography, and hearing tests of five patients who were diagnosed and managed with Bartter syndrome at Asan Medical Center from April 1992 to May 2007. We also evaluated height and body weight periodically after institution of therapy. RESULTS: All patients had poor oral intake, failure to thrive and polyuria. Three of them had maternal history of polyhydramnios and premature delivery. The mean age at diagnosis was 11.8 months. All children presented with hypokalemia, metabolic alkalosis, hyperreninemia. Their blood pressures were normal. One patient had nephrocalcinosis on renal ultrasonography and all of them had normal result in hearing tests. After treatment with indomethacin or other prostaglandin inhibitors and potassium supplementation, their clinical features improved with catch-up growth and improvement in the development during long-term follow-up. CONCLUSION: We emphasize that early diagnosis and proper treatment in patient with Bartter syndrome are related to better prognosis.
Alkalosis ; Bartter Syndrome* ; Body Weight ; Child ; Chungcheongnam-do ; Diagnosis ; Early Diagnosis ; Failure to Thrive ; Follow-Up Studies ; Hearing Tests ; Humans ; Hypokalemia ; Indomethacin ; Nephrocalcinosis ; Polyhydramnios ; Polyuria ; Potassium ; Prognosis ; Prostaglandin Antagonists ; Retrospective Studies ; Treatment Outcome ; Ultrasonography

Benign chorioangioma of the placenta is the most common primary tumor of the placenta similar to hamartoma. Most small-sized tumors do not make any clinical problem, but uncommon large tumors (>5 cm in diameter) may produce both maternal and fetal complications, such as polyhydramnios, preterm labor, fetal hydrops, microangiopathic hemolytic anemia, disseminated intravascular coagulation, intrauterine growth restriction, preeclampsia and placental abruption. In this respect, the diagnosis and management of chorioangioma and its complication should be done appropriately. We report a case of chorioangioma presenting with polyhydramnios, preterm labor, fetal anemia and fetal hydrops, diagnosed by antenatal ultrasonography and postnatal placental histologic examination, and live born baby with the brief review of the literature related to this type of tumor.
Abruptio Placentae ; Anemia* ; Anemia, Hemolytic ; Diagnosis ; Disseminated Intravascular Coagulation ; Female ; Hamartoma ; Hemangioma* ; Hydrops Fetalis* ; Obstetric Labor, Premature ; Placenta* ; Polyhydramnios ; Pre-Eclampsia ; Pregnancy ; Ultrasonography

OBJECTIVE:Ultrasound estimation of amniotic fluid volume (AFI) is a critical component of antenatal surveillance. Alterations in AFI have classically been considered an indication of fetal compromise. Thus, this study was undertaken to determine whether there is any association between idiopathic polyhydramnios or oligohydramnios and adverse perinatal outcome. METHODS:Women delivered between December 1999 and November 2005, and who underwent ultrasonography from 26 to 41 weeks gestation were analyzed. Twenty-seven consecutive women with singleton pregnancies complicated by idiopathic polyhydramnios (amniotic fluid index>25) and 31 women complicated by oligohydraminos (amniotic fluid index<5) were included in this study. We reviewed the perinatal outcomes including preterm delivery, birth weight, primary cesarean section rate and indication, Apgar score (1-min and 5-min), and admission to NICU (neonatal intensive care unit). These findings were compared with those of 50 matched control patients with normal amniotic fluid volume. RESULTS:We observed that idiopathic oligohydramnios was significantly associated with primary perinatal outcome (Cesarean delivery for fetal distress) as well as secondary outcome variables such as birthweight, SGA (small for gestational age), Apgar score<7 at 1-min, 5-min, and NICU admission rates. On the other hand, idiopathic polyhydramnios did not correlate with any other perinatal outcome, except for rates of LGA (large for gestational age). CONCLUSION:The present study suggests that AFI is a weak predictor of perinatal outcome than has been classically suggested. But we demonstrated that the AFI identification of polyhydramnios was helpful in identifying LGA, and idiopathic oligohydramnios was a significant predictor of poor perinatal outcome.
Amniotic Fluid ; Apgar Score ; Birth Weight ; Cesarean Section ; Female ; Hand ; Humans ; Critical Care ; Oligohydramnios* ; Polyhydramnios* ; Pregnancy ; Ultrasonography

Twin reversed arterial perfusion (TRAP) sequence is a unique complication of monochorionic twinning, in which normal pump or donor twin paradoxically perfuses the recipient or acardiac twin through arterial- arterial anastomoses. This results in reversed flow of poorly oxygenated blood through the recipient twin and is usually associated with partial or complete lack of heart development. The pump twin has a mortality rate of 50% as a result of high-output heart failure, preterm labor, and polyhydramnios. We present here a case of twin reversed arterial perfusion (TRAP) sequence complicated by severe polyhydramnios during the second trimester. The blood supply to acardiac twin was interrupted successfully at 25 weeks of gestation by injecting 1.5 mL of absolute alcohol into the intra-abdominal portion of the single umbilical artery, under ultrasound guidance. Serial ultrasound showed normal growth and normal amniotic fluid volume in normal pump twin, but arrest of growth in femur length and decrease in amniotic fluid volume in acardiac twin. The normal pump twin was delivered at 384 weeks of gestation and had uneventful neonatal course.
Amniotic Fluid ; Ethanol ; Female ; Femur ; Heart ; Heart Failure ; Humans ; Mortality ; Obstetric Labor, Premature ; Oxygen ; Perfusion* ; Polyhydramnios* ; Pregnancy ; Pregnancy Trimester, Second ; Single Umbilical Artery ; Tissue Donors ; Ultrasonography