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Results 301 - 350 of 769
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Wright N P - - 2004
A diploid/triploid karyotype is an uncommon but important cause of true hermaphroditism and ambiguous genitalia. Individuals have a recognisable phenotype and characteristic hydatidiform placental changes. We report a 46,XX/69,XXY chimeric hermaphrodite. This case highlights the typical features (large placenta, intrauterine growth retardation, asymmetric growth, cranio-facial anomalies, syndactyly and pigmentary dysplasia). ...
Kwee A - - 2004
OBJECTIVE: To assess the value of the STAN fetal heart monitor for intrapartum fetal monitoring using cardiotocography (CTG) and fetal electrocardiography (ECG). DESIGN: Prospective observational study. MATERIAL AND METHODS: Between August 2000 and November 2002, 637 high-risk labors were monitored using a STAN S21 fetal heart monitor, providing CTG plus ...
Sau Ashis - - 2004
OBJECTIVES: The purpose of our study was to review our own experience and the available literature on the prenatal diagnosis of absent ductus venosus associated with direct insertion of the umbilical vein into the heart. METHODS: A retrospective review of the database of a tertiary fetal cardiology centre. The literature ...
Kotzot Dieter - - 2004
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. Meiotic nondisjunction followed by trisomy rescue is considered to be the major mechanism of formation. A literature search for cases with whole chromosome UPD other than UPD 15 was performed. Information on parental age was ...
Pourbabak Sam - - 2004
Fetomaternal hemorrhage (FMH) is a common obstetrical occurrence most often associated with small volumes of blood transferred across the placenta. Fetomaternal hemorrhage leads to alloimmunization of Rh D-negative mothers, resulting in an increased risk of hemolytic disease of the newborn. Massive FMH involving volumes of blood greater than 30 mL ...
Thakur Seema - - 2004
We describe a stillborn female with joint contractures, subcutaneous oedema, ectropion, a severely flattened nose, an 'O' shaped open mouth and extensive peeling of skin. The head circumference was normal. She was born at 33 weeks of gestation to consanguineous parents, who had one previous offspring affected with non-immune hydrops ...
Romaguera Rita L - - 2004
Classification of molar gestations into complete and partial and their differentiation from hydropic abortions traditionally are accomplished by morphology alone. The process sometimes may be inaccurate or inconclusive. With the availability of p57 immunostaining it may be possible to objectively classify these lesions. We used p57 for the differential diagnosis ...
Eckoldt Felicitas - - 2004
OBJECTIVES: Unilateral multicystic kidney dysplasia (MCKD) is the second most common urinary tract abnormality diagnosed antenatally. Whilst an isolated unilateral MCKD has a good prognosis, a poor outcome must be expected when MCKD is associated with other complex abnormalities. MATERIAL: Out of 11,176 cases, 693 fetuses were suspected of having ...
Thomas S - - 2004
Mosaic trisomy 22 is rare, but can be compatible with prolonged life. Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8 kg and normal developmental ...
Komwilaisak Ratana - - 2004
The 48, XXY/+18 is a very rare aneuploidy syndrome which combines the aberration in both autosome and sex chromosome. The authors report a case diagnosed prenatally by lymphocyte culture from fetal blood samples following cordocentesis, 2-dimensional (2DUS) and 3-dimensional ultrasonography (3DUS). At 33 1/7 weeks gestation in an ultrasound examination ...
Lynch M Fran - - 2004
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management. Trisomy 14 mosaicism should be suspected in individuals who have the features described herein, thus prompting ...
Singh Vivekanand - - 2004
BACKGROUND: A single umbilical artery (SUA) in a fetus may be associated with hydronephrosis. CASES: We describe 2 cases of SUA, one of which had severe hydronephrosis with ascites and was stillborn. The other case was born alive with a unilateral hydroureter and is being managed with close monitoring. CONCLUSION: ...
Copcu Eray - - 2004
BACKGROUND: Clitoromegaly is a frequent congenital malformation, but acquired clitoral enlargement is relatively rare. METHODS: Two acquired clitoromegaly cases treated in Ataturk Training Hospital, Izmir, Turkey are presented. RESULTS: History from both patients revealed clitoromegaly over the last three years. Neither gynecological nor systemic abnormalities were detected in either patient. ...
Shankar M - - 2004
OBJECTIVE: To reinforce the risk of feto-maternal haemorrhage associated with external cephalic version for breech presentation. METHOD: A single case report with a literature review. RESULTS: Our case report was associated with the largest feto-maternal haemorrhage following external cephalic version reported so far. The perinatal outcome in this case was ...
Vasović Ljiljana P - - 2004
The ancient knowledge of the cerebral arterial circle (CAC) angioarchitecture could be supplemented by either a new or a forgotten old fact about it. Therefore, 7 cases of a rare form of the CAC of fetuses were described, where the so-called intermediate communicating artery, as an excess vessel into the ...
Ruano Rodrigo - - 2004
OBJECTIVES: To report a rare case of congenital hiatal hernia illustrating the importance of its prenatal diagnosis as well as to discuss the prenatal sonographic criteria. CASE REPORT: A case of congenital hiatal hernia was diagnosed by ultrasound at 33 weeks of gestation. After a normal second-trimester morphologic ultrasound examination, ...
Gornall A S - - 2003
OBJECTIVES: Most available data regarding accuracy of prenatal diagnosis, prevalence and outcome of congenital cystic adenomatoid malformation (CCAM) are derived largely from tertiary referral centres and may not reflect general population rates. We aimed to describe the accuracy of prenatal diagnosis, ascertain the population prevalence and post-natal outcome for cases ...
Bellver J - - 2003
We report five cases of first-trimester reversed end-diastolic flow in the umbilical artery. Diagnoses were performed between 8 and 12 gestational weeks. All but one case appeared as a transient early finding. Second-trimester fetal demise occurred in two cases. One case delivered at 32 weeks with severe growth restriction but ...
Sepulveda W - - 2003
OBJECTIVE: To report on the prenatal ultrasound findings associated with complete trisomy 9. METHODS: Cases of complete trisomy 9 diagnosed prenatally were identified by reviewing the reports from two large cytogenetics laboratories serving tertiary referral centers for prenatal diagnosis. Information on prenatal ultrasound findings and outcome was obtained in all ...
Mangione Raphaele - - 2003
OBJECTIVE: The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visualization and diagnosis of craniofacial dysmorphism. METHODS: In this prospective study, we performed three-dimensional (3D) ultrasound following good-quality two-dimensional (2D) ultrasound in an at-risk population. Findings from 2D and 3D examination were noted. RESULTS: Our ...
Baialardo Edgardo M - - 2003
We report a boy with partial distal 5p15.1-->pter trisomy and normal development. We compared the clinical findings in our patient with those previously reported of the same 5p duplicated region. Several cases of autosomal duplications and normal development have been described. The present case is another example of a chromosomal ...
Stiller R J - - 2003
Neonatal portal vein thrombosis (PVT) is a rare condition seen in the setting of thrombophilia or after umbilical vein catheterization. We report a case of fetal PVT with abnormal antenatal ultrasound findings at 27 weeks of gestation. This presented initially as dilation of the intrahepatic umbilical vein. To our knowledge, ...
Diamond Ivan R - - 2003
A congenital cystic adenomatoid malformation (CCAM) is a congenital lung lesion that, when associated with hydrops, is thought to have a dismal prognosis without fetal intervention. The authors report a case of a fetus with a CCAM associated with ascites as the only manifestation of hydrops, which was diagnosed at ...
Czepulkowski B - - 2003
We present a short report here of two more patients with trisomy 2 as the sole chromosomal abnormality in a hematologic malignancy. Although trisomy 2 is a recognized abnormality in neoplasms, particularly hepatoblastomas, to the best of our knowledge only three other cases have been reported with trisomy 2, in ...
Zhao Hui-quan - - 2003
11q trisomy is associated with a recognizable pattern of multiple malformations. Review of the literature reveals the following recurrent themes common to complex and isolated 11q trisomy: mental retardation, pre- and postnatal growth retardation, hypotonia, a distinct pattern of facial features, congenital heart defects, and limb malformations. We report four ...
Campero C M - - 2003
Necropsies were performed on 354 fetuses from dairy and beef herds submitted from 1994 to 2000 to the diagnostic laboratories at Instituto Nacional de Tecnología Agropecuaria, Balcarce, Argentina. Samples from the fetuses were examined for pathogenic organisms and processed for microscopic examination. An aetiological diagnosis was made for 161 (45.5%) ...
Daniel Art - - 2003
Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA from fetal tissues and parental blood. Non-mosaic ...
Michailidis G D - - 2003
The objective of this study was to examine the accuracy of fetal gender prediction at a routine first trimester scan using three-dimensional (3D) ultrasound. 200 women were recruited for this study and they agreed to have a transvaginal scan for their routine first trimester scan for fetal anatomy and nuchal ...
Stipoljev F - - 2003
This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts ...
Hendson W W Division of Paediatric Cardiology, Johannesburg Hospital and University of the Witwatersrand, Johannesburg, South - - 2003
We present a case of complete trisomy 8 in a 40-day-old male infant, who had a number of congenital heart abnormalities.
Gibbin C - - 2003
OBJECTIVES: To determine the incidence of cardiac disease associated with abdominal wall defects of fetuses and associated parameters including maternal age, sex, gestational age at delivery, outcome, karyotypes, Apgar scores and associated congenital anomalies. METHODS: This was a retrospective study of fetuses with a prenatal diagnosis of gastroschisis or omphalocele. ...
Hong Bo - - 2003
We report a case of pleuropulmonary blastoma with complex cytogenetic abnormalities, including trisomy 2, trisomy 8, dup(7), der(10) t(8; 10)(q13; q22), add(17), and double minutes (dmin). Fluorescence in situ hybridization FISH analysis demonstrated TP53 deletion and amplification of MYCN; the latter has not been reported in PPB.
Onderoglu L - - 2003
Prenatal diagnosis of congenital atresia of the larynx is difficult but is possible by the findings of increased lung echogenicity and size coexisting with fetal ascites in ultrasonography. Sonographic findings may not always be typical. We report on a case of congenital laryngeal atresia diagnosed prenatally by the findings of ...
Chaddha Vandana - - 2003
Prader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method to detect deletion including mosaicism. In this report we describe a female child with ...
Karatza A A - - 2003
Isolated non-compaction of the ventricular myocardium (NCVM) is a rare cardiomyopathy characterized by the persistence of numerous marked ventricular trabeculations and deep intertrabecular recesses with direct vascular supply by the ventricular cavities. We report two cases diagnosed by fetal echocardiography at 27 and 30 weeks' gestation, respectively. Postnatal echocardiography verified ...
Takeuchi K - - 2003
In few cases of Turner syndrome the karyotype reveals the presence of an additional Y-bearing cell line, which is referred to as a borderline case of mixed gonadal dysgenesis. We report a 20-year-old woman with primary amenorrhea, virilization and a few Turner stigmata, who revealed rare mosaicism of 45,X/46,X dic ...
Simensen R J - - 2003
We report developmental data on a patient prenatally diagnosed with mosaic trisomy 16. At age six years her intellectual functioning, academic achievement, and adaptive behavior are normal. The myriad of findings among cases prenatally diagnosed with mosaic trisomy 16 are discussed. The diagnosis presents a dilemma for genetic counselors and ...
Brems H - - 2003
We report three cases with a typical diploid/triploid mixoploidy. Cytogenetic analysis showed a normal diploid karyotype in peripheral blood lymphocytes and a mixture of diploid and triploid cells in skin fibroblasts. We analysed microsatellite markers in patients blood lymphocytes and skin fibroblasts and compared the results with the microsatellite markers ...
Shivarajan M A - - 2003
This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to ...
Lev-Sagie A - - 2003
Nonne-Milroy lymphedema is a relatively rare disorder characterized by firm edema of the lower extremities either on the whole leg or limited to the feet or toes. We report a case of atypical Nonne-Milroy syndrome that presented prenatally with bilateral leg edema, bilateral hydrothorax and lung hypoplasia at 22 weeks' ...
Gershanik Juan J - - 2003
The EXIT (Ex-Utero Intrapartum Treatment) procedure is an extremely valuable tool in providing time to secure the airway in infants with large fetal neck masses and abnormalities of the upper airway which impede resuscitation. The fetus is partially delivered while maintaining utero-placental-fetal circulation. We report the use of this technique ...
La Torre R - - 2003
A case of a 24-week-old fetus of non consanguineous parents with an ultrasonographic diagnosis of a short right femur, ipsilateral agenesia of the fibula and a twisted right foot is described. Cordocentesis revealed a normal 46XY karyotype. The parents were informed on treatment options and after psychological counselling they decided ...
Donner L R - - 2002
This article describes a case of nodular fasciitis with the karyotype 47,XY,+4/46,XY,add(15)(p11.2), t(16;16)(p13.3;p11.2). The presence of clonal chromosomal abnormalities in this case, as well as in three previously reported cases, indicates that nodular fasciitis is a benign neoplasm and not a reactive lesion.
Patricolo M - - 2002
Fetal SBA (spina bifida aperta) has been operated upon in more than 213 cases in the USA in the last 8 years. Indications and results still remain controversial. Our group reproduced successfully Meuli's model in sheep and reviewed the literature on SBA and the Internet updated sites on the theme. ...
Bats A S - - 2002
Subependymal pseudocysts are cerebral cysts found in 5% of all neonates. When they are isolated and typical, they result from persistence of the germinal matrix, have a good prognosis and regress spontaneously within a few months. However, associated anomalies are frequent and in such cases the prognosis is poor. They ...
Parmar Ramesh C - - 2002
A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture ...
Vadlamani Indira - - 2002
This study reports on a pediatric case of hemangiopericytoma (HPC) showing trisomy 15 as a sole anomaly. Trisomy 15 was observed in a total of 11 cells harvested at a very early passage from two different in-situ cultures. Trisomy 15, as a sole anomaly, has been described in hematologic disorders ...
Kajantie E - - 2002
We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on overlapping phenotypes suggests an extension of the XK-aprosencephaly spectrum.
Machevin-Surugue E - - 2002
The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome ...
León G - - 2002
Omphaloceles and gastroschisis are the most common defects of the fetal anterior abdominal wall. The association of an omphalocele with an anterior thoracic wall defect could result from a variety of congenital syndromes of which Cantrell's pentalogy is the most common. For proper surgical scheduling of the neonate, early diagnosis ...
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