Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 20
Filter
1.
Environ Health Insights ; 13: 1178630219862236, 2019.
Article in English | MEDLINE | ID: mdl-31367176

ABSTRACT

BACKGROUND: A limited number of potentially hazardous trace elements were quantified in the aquatic environment near the world's second largest coal-fired power plant (CFPP) and the coal combustion residual (CCR) disposition sites in Central Taiwan. We postulated that contamination from specific trace elements would be present in the abovementioned aquatic environments. METHODS: Cross-sectional sampling of trace elements was first performed between September 24, 2017 and October 3, 2017 outside the CFPP, in the effluent sampled from Changhua, a county south of metropolitan Taichung, and at the historical CCR disposal sites, using the intertidal zone surface seawater and the seawater in an oyster farm as controls. Aqueous samples were collected from 12 locations for analysis of 13 trace elements (Al, As, B, Cd, total Cr, Co, Fe, Pb, Mn, Se, Sr, Tl, and V). We used inductively coupled plasma (ICP) optical emission spectrometry to determine B and Fe levels, and ICP mass spectrometry for all other trace elements. The Spearman rank correlation coefficient (Rho) was calculated to examine the pairwise relation among the trace elements. RESULTS: Al (50% of all samples), B (66.7%), Fe (25%), Mn (50%), Sr (8.3%), and V (25%) were identified as being above the Environmental Protection Agency (EPA) regulation limit. The oyster farm seawater had no concerns. Mn (96.4 µg/L) in the CFPP drainage effluent was 1.9-fold above the regulation limit. Fe, Mn, and V were detected from the cooling channel at 4379, 625, and 11.3 µg/L, respectively. The effluent and water from the areas surrounding the 2 CCR dump sites revealed similar magnitudes of trace element contamination. B is highly correlated with Sr (Rho = 0.94, 95% confidence interval [CI], 0.80-0.98). Meanwhile, Fe is highly correlated with Al (Rho = 0.77), Pb (Rho = 0.71), Co (Rho = 0.75), and V (Rho = 0.84). CONCLUSIONS: The EPA must set an explicit regulation limit for aluminum, boron, iron, and strontium in the aquatic environment. This exploratory research will inform policymaking regarding certain trace elements that could potentially have an adverse impact on public health and wildlife.

2.
Taiwan J Obstet Gynecol ; 57(4): 598-600, 2018 Aug.
Article in English | MEDLINE | ID: mdl-30122586

ABSTRACT

OBJECTIVE: All of the medical records of fetuses with the sonographic finding of radial ray defects (RRDs) between 2008 and 2015 were retrieved. The associated sonographic findings, cytogenetic results, and necropsy findings were correlated. CASE REPORT: There were 6 cases of RRD. Three cases were bilateral and the other 3 cases were unilateral. The gestational ages at diagnosis were between 12 and 24 weeks gestation. All women carrying fetuses with RRDs opted to terminate the pregnancy. There were 2 cases of trisomy 18, one case of thrombocytopenia-absent radius syndrome, and 2 cases of isolated RRD. Both cases of trisomy 18 had other sonographic abnormalities. CONCLUSION: RRD should be considered if a short radius and abnormal angulation of the wrist or thumb is noted. The use of 3-D ultrasound facilitates the diagnosis of RRD, even at early gestation, by providing a better surface appearance, panoramic views, and spatial orientation.


Subject(s)
Radius/abnormalities , Radius/diagnostic imaging , Ultrasonography, Prenatal , Female , Gestational Age , Humans , Imaging, Three-Dimensional/methods , Pregnancy , Radius/embryology , Thrombocytopenia , Trisomy 18 Syndrome , Ultrasonography, Prenatal/methods
3.
J Cancer ; 7(3): 225-31, 2016.
Article in English | MEDLINE | ID: mdl-26918034

ABSTRACT

The treatment of cancer is an important issue in both developing and developed countries. Clinical use of ultrasound in cancer is not only for the diagnosis but also for the treatment. Focused ultrasound surgery (FUS) is a noninvasive technique. By using the combination of high-intensity focused ultrasound (HIFU) and imaging method, FUS has the potential to ablate tumor lesions precisely. The main mechanisms of HIFU ablation involve mechanical and thermal effects. Recent advances in HIFU have increased its popularity. Some promising results were achieved in managing various malignancies, including pancreas, prostate, liver, kidney, breast and bone. Other applications include brain tumor ablation and disruption of the blood-brain barrier. We aim at briefly outlining the clinical utility of FUS as a noninvasive technique for a variety of types of cancer treatment.

4.
Taiwan J Obstet Gynecol ; 54(6): 780-3, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26701003

ABSTRACT

OBJECTIVE: Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. CASE REPORT: A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diprosopus twins are more illustrative in 3D ultrasound than in 2D ultrasound. After counseling, termination of pregnancy was chosen by the couple. Although necropsy was declined, the gross appearance and radiograph of the abortus confirmed our diagnosis. CONCLUSION: With the help of 3D ultrasound, we made an early and definitive diagnosis of conjoined twins.


Subject(s)
Imaging, Three-Dimensional , Prenatal Diagnosis , Spinal Dysraphism/diagnostic imaging , Twins, Conjoined , Ultrasonography, Prenatal , Adult , Female , Humans , Pregnancy , Pregnancy Trimester, First
5.
Taiwan J Obstet Gynecol ; 51(3): 354-8, 2012 Sep.
Article in English | MEDLINE | ID: mdl-23040916

ABSTRACT

OBJECTIVE: To evaluate the normal range of the fetal nasal bone length (NBL) in Taiwanese women using three-dimensional (3D) ultrasound, and compare the NBL of normal fetuses with Down syndrome to determine its significance in screening for trisomy 21. MATERIALS AND METHODS: A total of 102 consecutive fetuses and another 7 fetuses with trisomy 21, determined by karyotyping at 15-22 weeks' gestation, were evaluated with 3D ultrasound before amniocentesis at Changhua Christian Hospital between November 2003 and April 2004. RESULTS: The normal range for NBL in the second trimester in the Taiwanese population was investigated, and a linear relationship with gestational age was noted. The NBL increased with advancing gestational age (NBL in cm=0.0264×gestational age in weeks -0.042 (R(2)=0.2416). The median of the biparietal diameter/nasal bone length ratio had a stable value which tended to change minimally between 15 and 22 weeks of gestation. Chromosomally normal fetuses had statistically longer nasal bones than fetuses with Down syndrome (p=0.014). CONCLUSION: We present a reference range for 3D ultrasound measurement of the fetal NBL. A short nasal bone at 15 to 22 weeks is associated with a high risk of trisomy 21.


Subject(s)
Down Syndrome/diagnostic imaging , Nasal Bone/diagnostic imaging , Pregnancy Trimester, Second , Ultrasonography, Prenatal , Case-Control Studies , Down Syndrome/embryology , Female , Fetal Development , Gestational Age , Humans , Imaging, Three-Dimensional , Linear Models , Nasal Bone/embryology , Pregnancy , Reference Values , Taiwan , Ultrasonography, Prenatal/methods
6.
Taiwan J Obstet Gynecol ; 48(3): 278-81, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19797020

ABSTRACT

OBJECTIVE: The aim of this study was to describe the natural history and outcomes of fetal congenital cystic adenomatoid malformation (CCAM) of the lung in three antenatally diagnosed cases. CASE REPORT: Three women whose fetuses had CCAM of the lung between 2004 and 2006 chose to continue their pregnancies. We followed up these fetuses every 2 weeks and observed whether there were CCAM-related complications, such as polyhydramnios, mediastinal shifting, and even hydrops fetalis. We also used three-dimensional ultrasound using the VOCAL (Virtual Organ Computer-aided Analysis) rotational technique to calculate CCAM volume serially until delivery. At presentation, the three cases of fetal CCAM were all unilateral and microcystic. Two were complicated by mediastinal shift, but none had hydrops fetalis. Serial ultrasound volumetry demonstrated a trend toward a decreasing CCAM volume, despite an initial increase in volume. Complete resolution was noted in two cases by antenatal sonography. However, persistent lung lesions were found in two cases by postnatal chest radiography and in all cases by postnatal computed tomography scans. CONCLUSION: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.


Subject(s)
Cystic Adenomatoid Malformation of Lung, Congenital/diagnostic imaging , Pregnancy Complications/diagnostic imaging , Pregnancy Outcome , Ultrasonography, Prenatal , Female , Fetal Monitoring , Humans , Infant , Infant, Newborn , Male , Pregnancy , Tomography, X-Ray Computed
8.
Int Urogynecol J Pelvic Floor Dysfunct ; 19(7): 949-54, 2008 Jul.
Article in English | MEDLINE | ID: mdl-18231696

ABSTRACT

The aims of this study were to compare the pre- and postoperative urodynamic findings of the suburethral autologous rectus fascial sling procedure and to determine patient satisfaction with the procedure by telephone interviews. Eight-four female patients with urodynamic stress incontinence completed a multi-channel urodynamic study and pad test before and after the operation. Subjective and objective satisfaction were also recorded. Significant changes were noted in the stress maximal urethral closure pressure, pad test, voided volume, and peak flow rate (P < 0.05). The success rate was about 94%, and subjective satisfaction was about 72%. The most common complication was transient urinary tract infections. The suburethral sling resolved 50% of detrusor overactivity (DO), but de novo DO was 24%. The procedure combined with anterior colporrhaphy corrected or improved 97% of anterior vaginal wall prolapses (> or =stage II). This retrospective study demonstrates that suburethral autologous facial slingplasty has a high cure rate, high patient satisfaction, and is a less complicated procedure. It can also correct and prevent a recurrence of anterior vaginal wall prolapse when combined with anterior colporrhaphy.


Subject(s)
Gynecologic Surgical Procedures/methods , Suburethral Slings , Urinary Incontinence, Stress/surgery , Urologic Surgical Procedures/methods , Adult , Aged , Cohort Studies , Female , Humans , Kaplan-Meier Estimate , Middle Aged , Patient Satisfaction , Retrospective Studies , Treatment Outcome , Uterine Prolapse/surgery
9.
J Clin Ultrasound ; 36(2): 119-22, 2008 Feb.
Article in English | MEDLINE | ID: mdl-17764073

ABSTRACT

Type II osteogenesis imperfecta (OI) is a perinatally lethal disorder due to type I collagen abnormalities that has been diagnosed successfully in the second trimester. We report a case of type II OI that was confirmed on postmortem histology and radiography presenting as increased nuchal translucency in the first trimester.


Subject(s)
Fetal Diseases/diagnostic imaging , Osteogenesis Imperfecta/diagnostic imaging , Pregnancy Trimester, First , Ultrasonography, Prenatal/methods , Adult , Diagnosis, Differential , Fatal Outcome , Female , Humans , Osteogenesis Imperfecta/embryology , Pregnancy , Pregnancy Outcome
10.
Taiwan J Obstet Gynecol ; 46(1): 43-6, 2007 Mar.
Article in English | MEDLINE | ID: mdl-17389188

ABSTRACT

OBJECTIVE: To investigate the incidence and the importance of isolated persistent right umbilical vein (PRUV) in our obstetric population and to determine the role of three-dimensional (3D) ultrasound in prenatal diagnosis of isolated PRUV. MATERIAL AND METHODS: A total of 1,302 women who received regular antenatal care by a sole obstetrician at our hospital were prospectively evaluated between July 2003 and April 2005. Detailed anatomical evaluation of the fetus was performed by one sonographer. When the diagnosis of PRUV was made, it was confirmed by a senior obstetrician. 3D ultrasound with power Doppler was applied to delineate local anatomy. Echocardiography was performed in all the newborns by pediatric cardiologists to confirm the prenatal diagnosis and to evaluate for the presence of associated anomalies. RESULTS: Six fetuses with PRUV were detected among the 1,302 study subjects. The incidence of PRUV in our population was 0.46% (1:217 live births). Vascular anatomy was easy to demonstrate using 3D power Doppler. The ductus venous (DV) was present in all six fetuses. An atrial septal defect was shown to exist in four newborns by neonatal echocardiography, but spontaneous closure had occurred in the follow-up scan. CONCLUSION: PRUV is a common vascular anomaly that is easy to be overlooked. Reconstruction of the portal system in the affected fetuses using 3D ultrasound facilitated the identification of the DV. If the DV is present, and other anomalies are excluded, the fetus with PRUV has a good outcome.


Subject(s)
Cardiovascular Abnormalities/diagnostic imaging , Ultrasonography, Prenatal/methods , Umbilical Veins/abnormalities , Umbilical Veins/diagnostic imaging , Adult , Cardiovascular Abnormalities/epidemiology , Female , Gestational Age , Humans , Imaging, Three-Dimensional/methods , Incidence , Maternal Age , Pregnancy , Prospective Studies , Taiwan/epidemiology , Ultrasonography, Doppler, Color/methods , Ultrasonography, Prenatal/instrumentation
11.
Fetal Diagn Ther ; 22(3): 217-20, 2007.
Article in English | MEDLINE | ID: mdl-17228162

ABSTRACT

Second-trimester amniocentesis is a common procedure for prenatal diagnosis. Sepsis is a rare complication after amniocentesis and may rapidly deteriorate if prompt treatment, including broad-spectrum antibiotics and removal of the infected abortus, is delayed. In vitro fertilization and embryo transfer (IVF-ET) is a standard final treatment for infertile women. Transvaginal oocyte retrieval is necessary for such women; this procedure potentially causes Escherichia coli attaching and effacing in the abdominal cavity. Here we report that two pregnant women by IVF-ET developed sepsis after second-trimester amniocentesis. The cause of sepsis after amniocentesis is still unknown. We provided the possibility of the causation of the E. coli infection associated with the previous intra-abdominal procedure, but it needs more evidence to prove it.


Subject(s)
Amniocentesis/adverse effects , Pregnancy Complications, Infectious/etiology , Sepsis/etiology , Adult , Anti-Bacterial Agents/therapeutic use , Combined Modality Therapy , Dilatation and Curettage , Embryo Transfer/adverse effects , Escherichia coli Infections/drug therapy , Escherichia coli Infections/etiology , Escherichia coli Infections/surgery , Female , Fertilization in Vitro/adverse effects , Humans , Pregnancy , Pregnancy Complications, Infectious/drug therapy , Pregnancy Complications, Infectious/surgery , Pregnancy Trimester, Second , Sepsis/drug therapy , Sepsis/surgery
12.
J Minim Invasive Gynecol ; 13(5): 403-8, 2006.
Article in English | MEDLINE | ID: mdl-16962522

ABSTRACT

STUDY OBJECTIVE: To identify the incidence and outcomes of ureteral injuries in patients undergoing hysterectomy, and to evaluate the effect of intraoperative cystoscopy and early postoperative ureteral jet ultrasonography. DESIGN: Retrospective comparative study (Canadian Task Force classification II-2). SETTING: Tertiary medical center. PATIENTS: Fifteen patients who experienced ureteral injuries while undergoing hysterectomy out of 4950 total patients during a 6-year period. INTERVENTIONS: All patients underwent hysterectomy, and intraoperative cystoscopy or early postoperative ureteral jet ultrasonography were used to evaluate ureteral integrity. MEASUREMENTS AND MAIN RESULTS: The incidence of ureteral injury recognized after hysterectomy was 0.32%, and all ureteral injuries occurred during laparoscopic hysterectomy. The initial detection of ureteral injury resulted from intraoperative cystoscopy in five patients, early postoperative ureteral jet ultrasonography in two patients, and signs and symptoms in eight patients. The patients whose injuries were detected by either intraoperative cystoscopy or early postoperative ureteral jet ultrasonography were diagnosed earlier (1.7 and 19.9 postoperative days, respectively; p<.01) and tended toward more conservative treatment (p=.119; OR=10; 95% CI 0.78-128.78) than those who were diagnosed based on signs and symptoms alone. CONCLUSIONS: Use of intraoperative cystoscopy or early postoperative ureteral jet ultrasonography leads to earlier diagnosis of posthysterectomy ureteral injury, thereby allowing for more conservative treatment.


Subject(s)
Hysterectomy/adverse effects , Ureter/injuries , Ureteral Diseases/diagnosis , Ureteral Diseases/epidemiology , Adult , Cystoscopy , Early Diagnosis , Female , Humans , Intraoperative Care , Middle Aged , Postoperative Care , Retrospective Studies , Treatment Outcome , Ultrasonography, Doppler, Color , Ureteral Diseases/therapy
13.
Taiwan J Obstet Gynecol ; 45(2): 129-34, 2006 Jun.
Article in English | MEDLINE | ID: mdl-17197353

ABSTRACT

OBJECTIVE: To evaluate the different effects on urethral pressure profilometry (UPP) in pubovaginal slingplasty (PVS) and modified Burch colposuspension (MBC) procedures. MATERIALS AND METHODS: This was a descriptive study of urodynamic parameters and urethral pressure profilometry. A total of 63 patients with successful anti-incontinence surgery were recruited for this study. Thirty-eight women had received MBC before 1998, to stabilize the bladder neck and the anterior vaginal wall. Twenty-five women had undergone autologous PVS to elevate the backstop effect on the proximal urethra between 1998 and 2000. All patients were followed-up for at least 24 months after surgery. RESULTS: The mean age of patients in the PVS group was 52.5 years (range, 32-70 years), and 45.5 years (range, 31-61 years) in the MBC group. Age and parity were not significantly different between the two groups. The pressure transmission ratio (PTR) of the urethra increased significantly in both groups during the postoperative evaluation. Patients who had the MBC procedure showed an increased PTR at quarter (Q) Q1, Q2, and Q3 of the urethra. However, in the PVS group, the PTR increased only at Q3. The urethral closure pressure elevated significantly after MBC, but there were no significant changes after PVS. CONCLUSION: Our results indicate that different effects on UPP are evident in the PVS and MBC procedures. These two procedures should be considered in different anti-incontinence effect.


Subject(s)
Medical Records , Urethra/physiopathology , Urinary Incontinence/surgery , Urodynamics , Urologic Surgical Procedures , Adult , Aged , Female , Humans , Middle Aged , Pressure
14.
Taiwan J Obstet Gynecol ; 45(1): 53-5, 2006 Mar.
Article in English | MEDLINE | ID: mdl-17272209

ABSTRACT

OBJECTIVE: To present our experience of applying three-dimensional ultrasonography in prenatal diagnosis of hypospadia. CASE REPORT: A 28-year-old woman, gravida 1, para 0, visited our hospital at 17 weeks' gestation. No gross anomaly was found on the scan at 21 weeks' gestation. Fetal growth was appropriate for gestational age on two-dimensional (2D) ultrasonography at 27 weeks' gestation, but an abnormally curved and shortened fetal penis was found incidentally. Three-dimensional (3D) imaging in surface-rendered mode was used to reconstruct the fetal penis. Multiplanar and surface-rendered images were obtained in the midsagittal, axial, and coronal planes to precisely delineate the ventral curvature of the penis. At 39 weeks' gestation, a term newborn was delivered by vacuum extraction. On examination, the fetus was confirmed to have hypospadia. Karyotyping revealed 46,XY. CONCLUSION: 2D ultrasonography could only give indirect clues of hypospadia that was later more precisely delineated by 3D ultrasonography in surface-rendered mode.


Subject(s)
Hypospadias/diagnostic imaging , Imaging, Three-Dimensional , Ultrasonography, Prenatal/methods , Adult , Female , Gestational Age , Humans , Hypospadias/genetics , Image Processing, Computer-Assisted , Infant, Newborn , Karyotyping , Male , Penis/diagnostic imaging , Penis/embryology , Pregnancy
15.
Obstet Gynecol ; 105(5 Pt 2): 1176-8, 2005 May.
Article in English | MEDLINE | ID: mdl-15863572

ABSTRACT

BACKGROUND: A number of surgical techniques to control severe bleeding at cesarean delivery have been proposed, such as uterine artery ligation, hypogastric artery ligation, and uterine compression suturing. CASE: A primigravida with severe postpartum hemorrhage and disseminated intravascular coagulopathy had multiple square sutures placed through the uterus. Serial sonographic follow-up studies revealed uterine synechiae with partial obstruction of menstrual flow. Hysteroscopy confirmed unabsorbed sutures in the uterine cavity. CONCLUSION: The use of multiple sutures through the uterus is effective to control postpartum hemorrhage but may lead to uterine synechiae.


Subject(s)
Cesarean Section/adverse effects , Hemostasis, Surgical/adverse effects , Postpartum Hemorrhage/surgery , Suture Techniques/adverse effects , Tissue Adhesions/diagnosis , Adult , Cesarean Section/methods , Female , Follow-Up Studies , Hemostasis, Surgical/methods , Humans , Hysteroscopy/methods , Postpartum Hemorrhage/diagnosis , Pregnancy , Reoperation , Risk Assessment , Sutures/adverse effects , Tissue Adhesions/surgery , Treatment Outcome , Ultrasonography, Doppler
16.
J Minim Invasive Gynecol ; 12(2): 174-6, 2005.
Article in English | MEDLINE | ID: mdl-15904626

ABSTRACT

The RUMI uterine manipulator is a useful device for uterine mobilization and chromopertubation during laparoscopic surgery. We report two cases of iatrogenic uterine rupture caused by overinflation of the intrauterine balloon of the RUMI manipulator during chromopertubation. One rupture, which occurred on the uterine fundus, simply was sutured during surgery. The other rupture, which occurred into the uterine lateral wall, caused retroperitoneal hematoma. A second operation was required to treat this complication. Overinflation of the tip balloon of the RUMI manipulator during chromopertubation can cause uterine rupture that can result in massive hematoma.


Subject(s)
Fallopian Tube Diseases/surgery , Iatrogenic Disease , Laparoscopes/adverse effects , Laparoscopy/adverse effects , Uterine Rupture/etiology , Adult , Catheterization/instrumentation , Catheterization/methods , Fallopian Tube Diseases/diagnosis , Female , Follow-Up Studies , Humans , Intraoperative Complications/diagnosis , Intraoperative Complications/surgery , Laparoscopy/methods , Laparotomy/methods , Risk Assessment , Treatment Outcome , Uterine Rupture/surgery
17.
Article in English | MEDLINE | ID: mdl-15789150

ABSTRACT

Problems relating to the erosion of sling material, through either the vagina or the urethra, have been encountered with almost all kinds of synthetic sling materials. We present four unusual cases of women using different synthetic materials and the complications that occurred. The biopsies were examined histologically and analyzed for collagen and inflammatory reactions. Four patients who underwent suburethral slingplasty previously with different sling materials required surgical management for complications, including one intravesical Ethibond migration, vaginal mucosal mesh erosion in two patients, and one proximal urethral overcorrection with intravesical erosion. We reviewed the literature regarding the amount of mesh erosion and connective tissue reaction with synthetic materials. The efficiency of mesh removal was assessed. The four patients maintained urinary continence after urethrolysis and removal of the mesh. Fibrosis and severe inflammatory reactions were found in the connective tissue adjacent to the mesh as well as the Prolene mesh. Technically, it would be easier to remove the graft of patch sling if rejection or erosion occurs.


Subject(s)
Polypropylenes/adverse effects , Surgical Mesh/adverse effects , Urethra/surgery , Urinary Incontinence/surgery , Urologic Surgical Procedures/instrumentation , Uterine Prolapse/surgery , Adult , Aged , Device Removal , Female , Humans , Middle Aged
18.
J Ultrasound Med ; 23(9): 1211-5, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15328436

ABSTRACT

OBJECTIVE: To describe the different prenatal sonographic findings in 3 cases of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex, or cloacal exstrophy. METHODS: Three patients with OEIS complex were examined by sonography. In 2 (cases 2 and 3) of the 3 cases, color Doppler sonography was applied to the area of cord insertion and the abdominal mass to determine the origin of the abdominal mass. RESULTS: Three cases of OEIS complex with different sonographic appearances are included in this series. An absent bladder without an abdominal mass but with bowel floating in the amniotic cavity was revealed in case 1; an absent bladder with a lower anterior abdominal mass was found in the second trimester in case 2; and a large cystlike mass located in the anterior abdominal wall was found in case 3. Color Doppler imaging showed that the abdominal mass originated from the urinary bladder in cases 2 and 3; therefore, OEIS complex was presumptively diagnosed antenatally in these cases. In all cases, OEIS complex was confirmed postnatally. CONCLUSIONS: Omphalocele-exstrophy-imperforate anus-spinal defects complex should be considered in patients with an absent bladder combined with either an anterior abdominal wall mass or defects. Special attention should be given to search for other combined anomalies. We suggest that color Doppler sonography for identifying the perivesical umbilical arteries is a very useful method in establishing of the diagnosis of OEIS complex.


Subject(s)
Fetal Diseases/diagnostic imaging , Ultrasonography, Doppler, Color , Ultrasonography, Prenatal , Umbilical Arteries/diagnostic imaging , Adult , Anus, Imperforate/diagnostic imaging , Anus, Imperforate/embryology , Bladder Exstrophy/diagnostic imaging , Bladder Exstrophy/embryology , Female , Hernia, Umbilical/diagnostic imaging , Hernia, Umbilical/embryology , Humans , Pregnancy , Spinal Diseases/diagnostic imaging , Spinal Diseases/embryology
19.
Fetal Diagn Ther ; 19(4): 356-60, 2004.
Article in English | MEDLINE | ID: mdl-15192296

ABSTRACT

OBJECTIVE: A fetus having partial trisomy of the distal part of chromosome 21q due to a de novo translocation is reported here. METHOD: A 29-year-old woman received amniocentesis at 18 weeks of gestation because of abnormal ultrasound findings including bilateral choroid plexus cysts, atrioventricular septal defects, rocker-bottom feet, and possible hydrocephalus. RESULTS: Cytogenetic analysis revealed 46,XY, add(1)(p36.3), in which an additional material of unknown origin was attached to one of the terminal short arms of chromosome 1. Parental blood studies showed normal karyotypes in both parents. Spectral karyotyping was then performed and the origin of the additional material locating at chromosome 1p was found to be from chromosome 21. Conventional fluorescence in situ hybridization analysis was also used and confirmed the spectral karyotyping findings by use of a chromosome 21 specific painting probe, a locus specific probe localized within bands 21q22.13-q22.2 and a 21q subtelomeric probe. A hidden Down syndrome caused by a de novo translocation in this fetus was therefore diagnosed and the karyotype was designated as 46,XY, der(1)t(1;21)(p36.3;q22.1).ish der(1)(WCP21+, LSI 21+, 1pTEL-, 21q TEL+) de novo. Clinical features of the 1p36 deletion syndrome are also reviewed and may contribute to some features of this fetus. Termination of pregnancy was performed at 20 weeks of gestation. CONCLUSION: To our knowledge, our case appears to be the first to have partial monosomy 1p and partial trisomy 21q caused by de novo translocation being diagnosed prenatally.


Subject(s)
Chromosome Deletion , Down Syndrome/genetics , Fetal Diseases/genetics , In Situ Hybridization, Fluorescence/methods , Prenatal Diagnosis/methods , Spectral Karyotyping/methods , Adult , Chromosomes, Human, Pair 21/genetics , Down Syndrome/diagnosis , Female , Fetal Diseases/diagnosis , Humans , Pregnancy
20.
Prenat Diagn ; 24(2): 137-43, 2004 Feb.
Article in English | MEDLINE | ID: mdl-14974123

ABSTRACT

We report a patient whose chorionic villus sampling showed a nonmosaic trisomy 13 [46,XX,der(13;13)(q10;q10)]. Subsequent amniocentesis and cordocentesis showed varying percentages of abnormal cells (77 and 78% in two amniocentesis; 14% in cordocentesis) and mosaic trisomy 13 was impressed. Prenatal fetal ultrasound scanning revealed only mild structural abnormalities (echogenic cardiac foci, transient lemon head, transient skin oedema). The mother chose to continue the pregnancy. Karyotyping of the cord blood, peripheral blood, umbilical cord, urine, and chorion were performed postpartum. The process of correction appeared to exist in the placenta (indirect evidence from coexistence of trisomy 13 [46,XX,der(13;13)(q10,q10)], euploidy [46,XX], aneuploidy [46,XX,-13, +mar], and monosomy 13 [45,XX,-13] in the chorion at birth). The baby had survived beyond eight months of age at the time of submission. Few structural abnormalities except low-set ears, absence of the 12th rib, and cardiomegaly with ventricular septal defect, were noted postnatally. The growth reached 95th percentile at the age of one month. Development milestones were not delayed at serial evaluations. Her ventricular septal defect was corrected surgically at the age of six months. Karyotypes of her skin fibroblasts, blood lymphocytes, and cardiac tissue were all normal [46,XX] at the time of surgery. Difficulties of the genetic counseling are also discussed.


Subject(s)
Chromosomes, Human, Pair 13 , Glycogen Storage Disease Type II/diagnosis , Mosaicism/diagnosis , Prenatal Diagnosis , Trisomy/genetics , Adult , Chromosome Aberrations , Female , Genetic Counseling , Glycogen Storage Disease Type II/genetics , Humans , Infant , Karyotyping , Longitudinal Studies , Magnetic Resonance Imaging , Pregnancy , Trisomy/diagnosis , Ultrasonography, Prenatal
SELECTION OF CITATIONS
SEARCH DETAIL
...