The sonographic findings of Trisomy 18 are varied. Sonographic findings including choroid plexus cyst, hydramnios, enlarged cisterna magna, shortening of femur, micrognathia and clenched hands are observed in our case of genetically confirrned Trisomy 18. A case of sonographically diagnosed Edward syndrome (Trisomy 18) with negative triple marker screening test is presented with a brief case history and review of literatures.
Choroid Plexus ; Cisterna Magna ; Femur ; Hand ; Mass Screening ; Polyhydramnios ; Trisomy* ; Ultrasonography ; Ultrasonography, Prenatal*

Congenital chloridorrhea is a rare autosomal recessive disease and results from impairment of active transport of chloride in the ileum and colon. Absence of the Cl-/HCO3-, exchange pump causes polyhydramnios, distended bowel loop and absence of meconium before birth. Prenatal ultrasound examination shows a great number of circular anechoic area in the fetal abdomen, as well as polyhydramnios. Massive watery diarrhea is apparent from the first days of life. This fluid loss, with its attendant impairment of electrolyte homeostasis, is life threatening. Exact replacement of water, NaCl and KCl can prevent the growth and psychomotor retardation and the development of progressive renal damage. We experienced one case of congenital chloridorrhea and present it with brief review of literatures.
Abdomen ; Biological Transport, Active ; Colon ; Diarrhea ; Homeostasis ; Ileum ; Meconium ; Parturition ; Polyhydramnios ; Ultrasonography ; Water

OBJECTIVE: To evaluate the effect of fetal presentation to the measurement of amniotic fluid index(AFI) in singleton pregnancy after 20 weeks of gestation. MATERIALS AND METHODS: Review of the medical and ultrasonographic records from 1992 to 1996 including AFI value and pregnancy outcomes was performed retrospectively. The inclusion criteria were (1) singleton pregnancy delivered after 37 weeks of gestation, (2) birth weight between 10th and 90th percentile, (3) no fetal anomaly, (4) 5 minute Apgar score>or=7, (5) no maternal medical disease such as hypetensive disorders or diabetes, (6) and intact amniotic membranes at the time of ultrasonography. The results of 7,362 tests from 5,607 pregnancies were reviewed and analyzed. RESULTS: In normal pregnancies after 20 weeks of gestation, the AFI value showed the peak during 25~30 week and decreased thereafter. The range of AFI during preterm pregnancy(30~36 weeks, N=2,836) were between 9.4 and 21.8 cm(5th to 95th percentile, mean value of 15.2+/-4.1cm). The range of AFI at term(37~40 weeks, N=1,245) were 7.7 and 21.9 cm(5th to 95th percentile, mean value of 14.2+/-4.5cm), which showed significant difference (p=0.000) from that of preterm. The range of AFI after 41 weeks(N=75) were within 4.3 and 26.7cm(5th to 95th percentile, mean value of 13.8+/-6.3cm), which showed gradual decrease. The AFI among the gravidas with breech presentation showed similar values between 20~36 weeks. At term pregnancies(after 37 weeks, N=84) with breech presentation, the AFI(range 5.2cm~22.3cm, mean value 13.5+/-4.8cm) was smaller than those with cephalic presentation, but statistically insignificant(p=0.103). The commonly used criteria for oligohydramnios, AFI 5.0cm, equated to 1st percentile in cephalic presentation and 5th percentile in breech pregnancies, respectively. CONCLUSION: In this study AFI throughout pregnancies after 20 week of gestation showed difference of distribution of AFI according to gestational age and fetal presentation in term pregnancy. Further studies would be required to establish the cutoff value of oligohydramnios in cephalic and breech presentation at term pregnancy to establish different criteria according to fetal presentation.
Amnion ; Amniotic Fluid* ; Birth Weight ; Breech Presentation ; Female ; Gestational Age ; Labor Presentation* ; Oligohydramnios ; Polyhydramnios ; Pregnancy ; Pregnancy Outcome ; Retrospective Studies ; 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

During a 6-year period, from January 1990 to December 1995, 101 neonates with congenital anomalies were admitted to the division of pediatric surgery of Youngdong Severance Hospital. Fifty eight of them had prenatally detectable anomalies by ultrasonography and all of them had prenatal screening more than once with ultrasound. The abnormalities were prenatally detected in 24 neonates (41%). The detection rate was 70% in patients who had the prenatal screening at our hospital, whereas, the rate was 24% when it was performed at other medical facilities. Duodenal and jejunoileal atresias showed the highest detection rate (86%) and the next was the abdominal mass. The esophageal atresia was suggested by maternal polyhydramnios in 3 patients (25%). The only one patient with diaphragmatic hernia (17%) and no patients with gastroschisis were prenatally detected. The mean interval from birth to operation was 32 hours in the prenatally detected patients and 50 hours in the nondetected. The complication rate and the mortality after emergency operation were 20% and 7% in the detected group and 58% and 23% in the nondetected, respectively. The average period of the hospitalization was 20 days in the detected group and 39 days in the nondetected. We conclude that the prenatal detection of anomalies was necessary in order to give adequate care to the mothers and the babies, including early transfer to the tertiary care hospital, the decision of the optimal timing of delivery and of the timing of operation for babies. The prenatal diagnosis was also helpful to reduce the operative complication and the mortality.
Diagnosis* ; Emergencies ; Esophageal Atresia ; Gastroschisis ; Hernia, Diaphragmatic ; Hospitalization ; Humans ; Infant, Newborn ; Mortality ; Mothers ; Parturition ; Polyhydramnios ; Prenatal Diagnosis ; Tertiary Healthcare ; Ultrasonography ; Ultrasonography, Prenatal

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

PURPOSE: The purpose is to aid in the diagnosis and obstetric management by analysing the ultrasonographic findings of prenatally diagnosed Edward syndrome. METHOD: The study population consisted of 15 cases prenatally diagnosed Edward syndrome from January 1993 to January 1999. The medical charts and ultrasonographic findings were reviewed retrospectively, and especially the ultrasonographic findings before prenatal genetic diagnosis were anlyzed. RESULTS: All of the 15 cases reviewed showed at least one ultrasonographic finding suggesting Edward syndrome. In the first trimester, 2 cases revealed cystic hygroma and increased nuchal translucency, and after the second trimester, major structural anomalies including congenital heart anomalies and minor ultrasonographic findings such as choroid plexus cyst were noted. All of cases after 21 weeks of gestation showed congenital heart anomaly, and as the pregnancy progressed there was an increased tendency of intrauterine growth restriction and polyhydramnios. CONCLUSION: Prenatal ultrasonography in the screening process of Edward syndrome can be placed as a very informative method, as all of the Edward syndrome cases revealed at least one abnormal ultrasonographic findings. As congenital heart anomalies were found in all of the cases after 21 weeks of gestation, fetal echocardiography should be considered in evaluating suspected cases of Edward syndrome.
Choroid Plexus ; Diagnosis ; Echocardiography ; Female ; Heart ; Humans ; Lymphangioma, Cystic ; Mass Screening ; Nuchal Translucency Measurement ; Polyhydramnios ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Retrospective Studies ; Ultrasonography* ; Ultrasonography, Prenatal

OBJECTIVE: Our aim was to evaluate the accuracy of prenatal sonographic detection of fetal gastrointestinal(GI) anomalies and to present perinatal outcome of fetal GI anomalies, incidence of polyhydramnios, other malformations and chromosomal abnormalities associated with fetal GI anomalies. MATERIALS AND METHODS: Prenatal sonographic results were compared with GI anomalies found in 32 neonates during recent 8 years. 32 cases of fetal GI anomalies were divided into three groups based on the level of obstruction and complication; group 1: upper GI obstruction(4 esophageal, 5 duodenal and 8 ileojejunal atresia); group 2: lower GI obstruction(1 colonal, 9 anorectal atresia); group 3: GI obstruction with secondary complication(1 ascites, 2 meconium peritonitis, 2 meconium pseudocyst). RESULTS: The accurate prenatal sonographic detection rate of fetal GI anomalies was 70.6% in group 1 and 100% in group 3 and there was no detection in group 2. False positive diagnosis was made in 5 cases(2: esophageal atresia, 3:ileojejunal atresia), but none of them except one case of multiple cardiac anomalies confirmed by autopsy, was followed by termination of pregnancy. Polyhydramnios was significantly associated with group 1 and associated malformations with group 2. An abnormal karyotype existed in three out of 32(1 case of trisomy 18 in esophageal atresia, 2 cases of trisomy 21, each one in duodenal and anorectal atresia). Survival rate of group 1, 2, 3 were 76%, 25%, and 40% respectively. CONCLUSIONS: The upper GI anomalies were easily detected by prenatal sonographic examination and had a good prognosis. But, the lower GI anomalies were difficult to diagnose prenatally and had a poor prognosis. Therefore, further efforts to diagnose for lower GI anomalies should be performed.
Abnormal Karyotype ; Ascites ; Autopsy ; Chromosome Aberrations ; Colon ; Diagnosis ; Down Syndrome ; Esophageal Atresia ; Humans ; Incidence ; Infant, Newborn ; Meconium ; Peritonitis ; Polyhydramnios ; Pregnancy ; Prognosis ; Survival Rate ; Trisomy ; Ultrasonography*

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