OBJECTIVE: To reported on two fetuses diagnosed with 17q12 microdeletion syndrome. METHODS: The two fetuses were respectively found to have renal abnormalities and polyhydramnios upon second and third trimester ultrasonography. Umbilical cord blood of the first fetus and amniotic fluid of the second fetus were subjected to single nucleotide polymorphism array (SNP-array) analysis. After 17q12 microdeletion was found in the first fetus, SNP-array was carried out on peripheral blood samples of the parents to determine its origin. With the medical history of the parents taken into consideration, the father underwent high-throughput sequencing for 565 urinary system-related genes to exclude pathogenic or likely pathogenic variants associated with congenital malformations of the urinary and reproductive systems. RESULTS: In both fetuses, SNP-array has revealed a 1.42 Mb deletion at 17q12, or arr[hg19]17q12 (34 822 465-36 243 365) × 1. In both cases the microdeletion was inherited from the father, in whom no urinary disease-related pathogenic or likely pathogenic variants was identified. CONCLUSION Paternally derived 17q12 microdeletions probably underlay the genetic etiology of the two fetuses with renal ultrasound abnormalities and polyhydramnios. SNP-array can enable the diagnosis and facilitate genetic counseling and prenatal diagnosis for the families.
Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 17 ; Female ; Fetus ; Genetic Counseling ; Genetic Testing ; Humans ; Polyhydramnios/genetics* ; Pregnancy ; Prenatal Diagnosis

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.
Edema ; Ethnic Groups ; Gestational Age ; Hepatomegaly ; High-Frequency Ventilation ; Humans ; Hyperostosis ; Hyperostosis, Cortical, Congenital ; Hypertension, Pulmonary ; Infant, Newborn ; Infant, Premature ; Karyotype ; Korea ; Liver Failure ; Micrognathism ; Parenteral Nutrition ; Polyhydramnios ; Shock, Septic

Amniotic fluid is an indicator of normal placental function and is essential for normal fetal lung maturation. Amniotic fluid index (AFI) is the most preferred method of amniotic fluid measurement in pregnancy although single deepest pocket (SDP) is also used. To measure AFI, the examiner divides the uterus into four equal quadrants. AFI is the sum of deepest pocket from each quadrant. The normal AFI ranges between 5~24 cm while any value above 24 cm is considered as hydramnios and that below 5 cm is indicated as oligohydramnios. An adequate volume of amniotic fluid is critical to allow normal fetal movement and growth, while also cushioning the fetus and umbilical cord. Regardless of the etiology, oligohydramnios may inhibit these processes and may lead to fetal deformation, umbilical cord compression, and death in some instances. Oligohydramnios can be due to underproduction, loss, or sometimes, isolated. Isolated oligohydramnios has been found to be responsive maternal hydration and is neither a malformation of the urinary system in the fetus, nor a rupture of amnion and due to genetic cause. The author would like to introduce a way to increase amniotic fluid volume in isolated oligohydramnios which is expect to improve the perinatal outcomes.
Amnion ; Amniotic Fluid ; Female ; Fetal Movement ; Fetus ; Lung ; Methods ; Oligohydramnios ; Polyhydramnios ; Pregnancy ; Rupture ; Umbilical Cord ; Uterus

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

Gestational diabetes mellitus (GDM) is traditionally defined as newly onset or detected carbohydrate intolerance during pregnancy. Unprotected exposure to high glucose levels during pregnancy is related to adverse pregnancy outcomes including fetal demise and intrauterine growth restriction associated with placental insufficiency. The most common complications related to GDM comprise macrosomia, shoulder dystocia, brachial plexus palsy, intrauterine fetal death and preeclampsia, polyhydramnios, preterm delivery, and increased cesarean section rate. Moreover, GDM may increase the chance of GDM recurrence in a subsequent pregnancy, impaired glucose tolerance or type 2 DM, and obesity or impaired glucose tolerance in the offspring. Therefore, proper obstetrical management and glucose control are always challenging and important. The aim of this article is to discern: 1) obstetric complications related to GDM diagnosed after pregnancy, 2) various methods of fetal surveillance, 3) proper timing for delivery and mode of delivery, 4) postpartum management for GDM patients and neonates, and 5) preconceptional counseling prior to a possible subsequent pregnancy.
Brachial Plexus ; Cesarean Section ; Counseling ; Diabetes, Gestational* ; Dystocia ; Female ; Fetal Death ; Glucose ; Humans ; Infant, Newborn ; Obesity ; Obstetrics ; Paralysis ; Placental Insufficiency ; Polyhydramnios ; Postpartum Period ; Pre-Eclampsia ; Pregnancy ; Pregnancy Complications ; Pregnancy Outcome ; Recurrence ; Shoulder

PURPOSE: To identify neonatal characteristics associated with congenital cystic adenomatoid malformation (CCAM) who required early operations and to introduce preoperative interventions to delay definitive operations until stabilized. METHODS: A retrospective review of dataset was performed from January 2000 to December 2011 for neonates admitted to NICU at Asan Medical Center with prenatally diagnosed CCAM. Variable prenatal and postnatal factors were compared for those who required early operations to those asymptomatic neonates who required elective operations at later age. RESULTS: A total of 60 patients were enrolled and patients were divided into 2 groups according to time of operation. Median time of surgery for group 1 (n=12, 20%) and group 2 (n=48, 80%) was 5.5 days and 504 days, respectively. Maternal characteristics including age, parity, preterm labor, oligohydramnios were similar in between two groups. Factors associated with early operation included prenatal history of polyhydramnios (OR 23, P=0.001), who had undergone fetal interventions (OR 47, P=0.001), low 1 and 5 minute Apgar scores and increasing fetal fluid-filled cystic sizes (OR 26, P=0.013). Of those 3 neonates who required preoperative interventions to decrease air-filled cysts to relieve initial respiratory symptoms were successful and all underwent for definitive operations during NICU hospitalizations. All survived. CONCLUSION: Most neonates with CCAM undergo elective operations during infancy. However, about 20% neonates with polyhydramnios, fetal intervention, increasing fetal cystic mass and born with low Apgar scores required early operations for whom prenatal and postnatal interventions prior to definitive surgery can improve survival rate.
Cystic Adenomatoid Malformation of Lung, Congenital ; Female ; Hospitalization ; Humans ; Infant, Newborn ; Lung ; Obstetric Labor, Premature ; Oligohydramnios ; Parity ; Polyhydramnios ; Pregnancy ; Retrospective Studies ; Risk Factors ; Survival Rate

Glycogen storage disease (GSD) is a group of heterogeneous disorders of glycogen metabolism that results in abnormal storage of glycogen in multiple organs. Clinical manifestations of GSD vary according to the basic enzyme defect. Only types II, IV, V or VII of GSD have been known to manifest in the infantile period. Of the 11 types of GSD, the congenital subtype of GSD type IV is characterized by severe neonatal hypotonia, multiple contractures, polyhydramnios, and fetal hydrops. We report a case of a patient born at a gestational age of 34 weeks and 3 days with fetal hydrops, joint contractures, and akinesia. Muscle biopsy results were highly indicative of GSD. This is the first case of suspected GSD in Korea presenting as fetal hydrops. The possibility of other disorders associated with glycogen metabolism should be considered in fatal fetal hydrops patients with severe hypotonia and arthrogryposis, and aggressive investigations such as muscle biopsy should be performed for early diagnosis.
Arthrogryposis ; Biopsy ; Contracture ; Early Diagnosis ; Gestational Age ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Hydrops Fetalis* ; Joints ; Korea ; Metabolism ; Muscle Hypotonia ; Muscles ; Polyhydramnios