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Schott Sarah - - 2009
OBJECTIVE: Fetal congenital cystic adenomatoid malformation (CCAM) is a rare lung abnormality with a highly variable prognosis depended on the presence of fetal hydrops and the size of the cysts. In case of fetal hydrops the prognosis is fatal without intervention. METHODS AND DESIGN: Case report and literature review. SETTING: ...
Pasquier Laurent - - 2009
Rhombencephalosynapsis is an uncommon cerebellar malformation defined by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Embryologic and genetic mechanisms are still unknown, and to date, no animal models are available. Ultrasound diagnosis is generally suspected after 22 weeks of gestation, and usually the abnormality is ...
Gerdes Tommy - - 2008
BACKGROUND: Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS: A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic fluids (AF) were analyzed using ...
Vanlandingham Matthew - - 2008
In this case report, we describe two siblings with a previously unreported partial monosomy 4q and partial trisomy 9q. The sibling karyotypes were determined to be 46,XX,der(4)t(4;9)(q33;q33)pat and 46,XY,der(4)t(4;9)-(q33;q33)pat. The siblings share several common pathological features, including VSD, PDA, low-set ears and digit anomalies as well as features consistent with ...
Saito Shoji - - 2008
Monosomy 1p36 is a common subtelomeric microdeletion syndrome, characterized by craniofacial dysmorphisms, developmental delay, mental retardation, hypotonia, epilepsy, cardiovascular complications, and hearing impairment; deleted regions have been mapped within 10.0 Mb from the telomere in most documented cases. We report on a girl with a 10.5-11.1 Mb terminal deletion of ...
Garne Ester - - 2009
OBJECTIVE: To describe prevalence, prenatal diagnosis and epidemiology of congenital hydronephrosis (CH) in Europe. MATERIAL AND METHOD: Data from a large European database for surveillance of congenital malformations (EUROCAT). The 20 participating registries are all based on multiple sources of information and include information about livebirths, fetal deaths with gestational ...
Jung Sung Il - - 2008
OBJECTIVE: To evaluate the sonographic vesicular pattern of a complete hydatidiform mole (CHM) in the early first trimester. STUDY DESIGN: A retrospective study was performed on 30 cases of histologically proven CHMs in the early first trimester. Two radiologists reviewed the sonograms of all cases before evacuation and determined the ...
Cavoretto P - - 2008
OBJECTIVE: To describe the antenatal findings and outcome of fetuses with echogenic lung lesions. METHODS: This was a retrospective study of the prenatal sonographic features, antenatal management and outcome of 193 fetuses with an echogenic lung lesion diagnosed at 18-35 weeks of gestation. There were nine cases of congenital high ...
Pitukkijronnakorn Somsri - - 2008
To evaluate the accuracy of prenatal ultrasonographic diagnosis in fetuses with trisomy 13. The present study consisted of all fetuses diagnosed of trisomy 13 and delivered at Ramathibodi Hospital between 1997 and 2006. There were 15 cases of trisomy 13. Twelve cases (80.0%) were detected by prenatal ultrasonographic examination, and ...
Connell Fiona - - 2008
In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled "hemangiolymphangiomas"). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post-mortem examination findings ...
Huissoud C - - 2008
Asoma is an unusual type of hemivertebra distinct from lateral hemivertebra in its underlying mechanisms, its rarity, its often isolated nature and the high risk of it causing medullary compression. We report a case of isolated partial agenesis of a vertebral body (asoma) diagnosed at 23 weeks' gestation by ultrasonography, ...
Tomek Viktor - - 2009
This report describes a fetus presenting with second-degree atrioventricular block, sinus bradycardia, and transient ventricular tachycardia with ventriculoatrial dissociation. Long QT syndrome (LQTS) was suspected due to the association of heart rhythm disturbances and very short transmitral early deceleration time. This impaired relaxation of the left ventricle was explained by ...
Aslam Muhammad - - 2008
Fetal and neonatal thyrotoxicosis from maternal Graves disease is a very rare entity. Fetal symptoms result from the transplacental passage of thyroid-stimulating immunoglobulins, which persist in the neonate resulting in neonatal symptoms. We present a case of fetal and neonatal thyrotoxicosis from maternal Graves disease. Fetal symptoms were controlled with ...
Tantbirojn Patou - - 2008
A case of prenatally diagnosed agnathia-otocephaly is reported. Agnathia is an extremely rare anomaly characterized by an absence or hypoplasia of the mandible and abnormal horizontal position of the ears. The targeted 2-D ultrasonography at 24 weeks of gestation revealed abnormal lower facial profile. Surface rendering 3-D ultrasonography was used ...
Kumari N - - 2008
OBJECTIVE: Renal malformations can be associated with genetic syndromes and chromosomal disorders. Fetal autopsy including histopathological examination of kidney is important to arrive at definite diagnosis. The objective was to assess importance of fetal autopsy and histopathology. STUDY DESIGN: Retrospective analysis of cases with fetal renal malformations was done. All ...
Kotzot D - - 2008
OBJECTIVE: To review all cases with segmental and/or complex uniparental disomy (UPD) and to discuss the impact of these cases on medical genetics. DESIGN: Searching for published reports in PubMed and in the abstract books of the annual meetings of the American Society of Human Genetics and the European Society ...
Baglaj Maciej - - 2008
Pallister-Killian syndrome (PKS) is a rare mosaic genetic disorder defined by the presence of isochromosome for the short arm of chromosome 12. The authors report 2 new cases of PKS with prenatal diagnosis of tetrasomy 12p made by cytogenetic study of amniocytes. Typical dysmorphic craniofacial features were noted postnatally. Both ...
Jeanty Philippe - - 2008
OBJECTIVE: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings. In this presentation, we limit the scope to the sagittal and parasagittal sections. METHODS: Over the past 10 years, we ...
Kiehl T R - - 2009
The 22q11.2 deletion syndrome (22qDS) is the most common microdeletion syndrome in humans. Its multisystem manifestations include congenital anomalies and neuropsychiatric disorders such as schizophrenia. Structural neuroimaging shows various abnormalities, but no postmortem brain studies exist. We report neuropathologic findings in 3 individuals from a cohort of 100 adults with ...
Schoenhaus Samantha A - - 2008
OBJECTIVE: To report a pregnancy in a hermaphrodite and review of the literature. DESIGN: Case report and literature review. SETTING: Clinical. PATIENT(S): A patient with male-predominant mosaic karyotype 96% 46XY. INTERVENTION(S): Removal of left ovotestis in combination with a supracervical hysterectomy and bilateral salpingo-oophorectomy. MAIN OUTCOME MEASURE(S): Identification of published ...
Medeiros Fabiola - - 2008
We report a well-documented case of a 28-year-old woman, gravida 3, para 1, undergoing termination at 22 weeks for fetal congenital malformations with concurrent partial hydatidiform mole and choriocarcinoma. A fetal ultrasound showed spina bifida, and an elective termination was performed. One month later, the patient presented with vaginal bleeding, ...
Santo Susana - - 2008
Aneurysms of the vein of Galen (AVG) represent less than 1% of all intracranial arteriovenous malformations. Two cases of prenatal diagnosis made by color Doppler ultrasonography at 32 weeks of gestation are reported. Both cases presented with antenatal mild cardiomegaly and both developed severe cardiac failure in the neonatal period. ...
Sarno Albert P AP - - 2008
OBJECTIVES: To review the indications, applications and technique of fetal cardiocentesis. METHODS: Review of published case reports and case series of fetal cardiocentesis utilizing the PubMed search engine of the National Library of Medicine. RESULTS: Case reports and case series demonstrate that fetal cardiocentesis may be an alternative method by ...
Joó József Gábor - - 2008
Single umbilical artery (SUA) is a relatively common malformation that may call attention to the possibility of associated malformations (often chromosome aberrations). The current study aimed at surveying malformations associated with SUA on the basis of fetopathological investigations, analyzing the role of history, summarizing the clinically important factors emerging together ...
Jamsheer Aleksander - - 2008
We report on 3 kindred patients with terminal 11q monosomy and distal 22q trisomy involving the SHANK3 gene, resulting from a subtle familial translocation t(11;22)(q24.2;q13.33). The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects ...
Sifakis S - - 2008
We report a case of trisomy 21 mosaicism detected upon amniocentesis in a 36-year-old woman. Ultrasound examination at 23 weeks' gestation showed a fetus with hydrops, pulmonary hypoplasia, oligohydramnios, thickened placenta, and intrauterine growth retardation. Cytogenetic analysis revealed low-percentage (6%) mosaicism for trisomy 21. Hydrops fetalis and thickened placenta are ...
Gunes S - - 2008
We report an 18-year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2-->qter). This report ...
Shima, Hiroshi
Blondeliine tachinids from the Oriental region are reviewed. The following new species are described and new synonymies and new combinations are proposed: Degeeriopsis apocola sp. n., Prodegeeria thomasi sp. n., Prodegeeria malayana sp. n., Blondelia breviceps Shima syn. n. of B. siamensis (Baranov) (comb. nov.), Compsilura sumatrensis Townsend syn. novo ...
Jeanty Philippe - - 2007
OBJECTIVE: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings. METHODS: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and ...
Jeanty Philippe - - 2007
OBJECTIVES: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings. METHODS: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and ...
Ethen Mary K - - 2007
BACKGROUND: The Texas Birth Defects Registry (TBDR) does not access prenatal diagnostic facilities to ascertain cases. Objectives of the study were to determine how many cases may be missing from the registry as a result, and to assess the feasibility and utility of prenatal surveillance for birth defects, through a ...
Has R - - 2007
OBJECTIVES: Diastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition. METHODS: Records of fetuses with diastematomyelia diagnosed in ...
Thien Peck-Foong - - 2007
Harlequin ichthyosis (HI) is the most devastating form of skin disorder, which is inherited as autosomal recessive trait related to consanguineous marriage. Although prenatal examination has become scheduled and convenient throughout Taiwan, an unexpected case of HI in a male premature infant born at 32 weeks of gestation was presented. ...
Lysy Philippe A - - 2007
Herein we describe a unique case of partial proximal 10q trisomy presenting biliary atresia, anal anteposition and cardiac malformation. The 10q duplication was confirmed by G banding on prophase chromosomes. A review of the literature confirmed that the patient displayed characteristic dysmorphic features of the recently defined partial proximal trisomy ...
Swanepoel D - - 2007
5p-(cri-du-chat syndrome) is a well-defined clinical entity presenting with phenotypic and cytogenetic variability. Despite recognition that abnormalities in audition are common, limited reports on auditory functioning in affected individuals are available. The current study presents a case illustrating the auditory functioning in a 22-month-old patient diagnosed with 5p- syndrome, karyotype ...
Pepe Ernesto - - 2007
We report on an Italian boy, born to normal and nonconsanguineous parents with a prenatal diagnosis of ventriculomegaly and subependymal glial heterotopias. At birth bilateral macrostomia was diagnosed without other evident facial anomalies. Magnetic resonance imaging (MRI) showed triventricular hydrocephalus and aqueductal stenosis and confirmed the nodules of glial heterotopia. ...
Cabaret A S - - 2007
OBJECTIVES: To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations. METHODS: Eighty three cases of NTD, seen at the prenatal diagnosis unit of Rennes University Hospital (France) between May 1999 and December 2002, were retrospectively studied. Cases with chromosomal anomalies (5/83), cases without ...
Tugrul Semih - - 2007
Iniencephaly is a rare but almost always lethal neural tube defect with the following cardinal features: occipital bone defect, partial or total absence of cervicothoracal vertebrae and fetal retroflexion. Iniencephaly is associated with malformations of the central nervous system, gastrointestinal and cardiovascular system. Prenatally diagnosed cases of iniencephaly are rare ...
Ochshorn Yifat - - 2007
OBJECTIVE: Isolated nonvisualized fetal gallbladder (INVFGB) is relatively rare. In most cases, the gallbladder will eventually be detected. In some cases however, INVFGB may be associated with serious abnormalities, cystic fibrosis (CF), aneuploidy, and agenesis of the gall bladder. We describe a clinical evaluation of prenatally diagnosed INVFGB. METHODS: Cases ...
Choudhry M - - 2007
OBJECTIVES: To assess the accuracy of the prenatal ultrasound finding of subjectively small/absent stomach bubble in the prenatal diagnosis of tracheo-oesophageal fistula and oesophageal atresia (TOF/OA). METHODS: A retrospective study of prenatal ultrasound scans showing small/absent stomach bubble was carried out between 1st January 1994 and 31st December 2003. RESULTS: ...
Smorgick Noam - - 2007
OBJECTIVE: This manuscript discusses the clinical presentation, diagnosis, pathophysiology and possible etiologies of prenatal thrombosis of the inferior vena cava and renal veins. METHODS: Eleven cases were identified through a Medline search of the English literature. These cases were reviewed, together with a recent case that was treated in our ...
Vidaeff A C - - 2007
Congenital obstruction of the upper airway (CHAOS) is a rare, usually lethal abnormality. A literature review of 36 prenatally diagnosed cases of CHAOS and the analysis of our own case suggest the existence of a distinct subtype of CHAOS, raising important implications for diagnosis and management. Serial fetal ultrasound examinations ...
Kikuchi Akira - - 2007
OBJECTIVE: Our objective was to determine the clinical significance of fetal hypoechoic hepatomegaly and serial change of liver sizes. METHODS: The liver sizes of four fetuses with hypoechoic hepatomegaly were serially estimated by liver length, as measured from the dome of the right hemidiaphragm to the tip of the right ...
Chintala Kavitha - - 2007
Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with ...
Ribeiro Maria do Céu Mdo - - 2007
Polymalformative syndromes are always a clinical challenge for their complexity and sometimes for their rarity. Authors present the case of a girl with peculiar facies, macrocephaly, axial hypotonia, and severe development delay. Cerebral magnetic resonance showed polymicrogyria. Cytogenetics revealed a 46,XX,der(1)(qter-->p36.13::q42.3-->qter) karyotype. This is the third case described to date. ...
Hojo Satoshi - - 2007
OBJECTIVES: To determine relevant prenatal findings of transient abnormal myelopoiesis (TAM) that have important prognostic implications. METHODS: The prenatal and postnatal medical records of all cases with confirmed TAM associated with Down syndrome were reviewed retrospectively, with emphasis on prenatal sonographic findings, fetal blood analysis, neonatal outcomes, and causes of ...
Pettman R - - 2007
The mtDNA mutation 8993T > G is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and Leigh syndrome. There are few reported cases of prenatal testing for mtDNA disorders. Specifically for 8993T > G, there are six cases in which prenatal diagnosis has been reported. We describe prenatal ...
Liehr Thomas - - 2007
In this study the substantial and in part contradictory data available in the literature was collected concerning the frequency of small supernumerary marker chromosomes (sSMC) in the human population in general, and in special subpopulations. One hundred and thirty-two studies on sSMC were reviewed. In summary 1,288,693 cytogenetically studied cases ...
Pal S - - 2007
Patients with isochromosome 18q, a rare cytogenetic abnormality, also reported as Edwards syndrome, is the second most common autosomal trisomy. However, the phenotypic features and survival of these patients are not uniform and depend upon the portion of chromosomes getting duplicated or deleted. The survival of these children may be ...
Ong S - - 2007
BACKGROUND: Adequate contemporary information to counsel patients with a prenatal diagnosis of holoprosencephaly is lacking. We addressed this using data from the West Midlands Congenital Anomaly Register (WMCAR), a population-based malformation register, during a time where technological improvements have been stable and anomaly screening is well established. METHODS: Cases were ...
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