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Adam Margaret P - - 2005
BACKGROUND: The thalassemias are an inherited group of heterogeneous anemias in which one or more of the globin chains in the hemoglobin tetramer are absent. Fetuses with homozygous alpha-thalassemia, which is particularly prevalent in people of Southeast Asian extraction, experience deficient alpha-globin chain synthesis and cannot produce hemoglobin F (the ...
Bernasconi A - - 2005
To evaluate the incidence of fetal dextrocardia, associated cardiac and extracardiac malformations, and outcome. Retrospective echocardiographic study. Two tertiary centres for fetal cardiology. 81 consecutive fetuses with a fetal dextrocardia presenting at Guy's Hospital, London, between 1983 and 2003 and at Hôpital Robert Debré, Paris, between 1988 and 2003. Fetal ...
Rasidaki Maria - - 2005
A case of fetal chest wall cystic lymphangioma diagnosed prenatally at 28 weeks' gestation is reported. Ultrasound examination showed a multilocular, large cystic mass (10 x 22 x 29 mm) on the left side of the fetus in the area of the lower chest and upper abdomen, without color flow ...
Berhan Yifru - - 2005
Holoprosencephaly is one of the rare types of craniofacial congenital anomaly characterized by failure of differentiation of the procencephalon to diencephalon and telencephalon derivatives that accompanied by variable degree of orbitofacial dysmorphism. The case presented to our hospital in the third trimester of pregnancy with intrauterine fetal death was diagnosed ...
Polizzi Agata - - 2005
Hypertrichosis cubiti (HC) or hairy elbow syndrome (OMIM # 139600) consists of a localised form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally, or occasionally on other parts of the body. In the 28 ...
Asabe Koushi - - 2005
We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks' gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks' gestation. Following a postnatal whole resection ...
Paladini D - - 2005
Cavernous lymphangiomas are characterized by penetration through the subcutaneous areas between the muscular septa and represent rare variants of the more common superficial lymphangioma. Although frequently described in the fetus when involving the posterior aspect of the neck (i.e. cystic hygroma), involvement of the craniofacial region is rare. We describe ...
Faivre Laurence - - 2005
The VACTERL association is characterized as a non-random pattern of defects including at least three of the following cardinal features: vertebral anomalies, anal atresia, cardiovascular malformations, tracheoesophageal fistula, renal and limb anomalies, and is postulated to be a very heterogeneous disorder. These defects can also be seen as part of ...
Goumy C - - 2005
We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most ...
Belloso J M - - 2005
We applied comparative genomic hybridization (CGH) in six patients with de novo prenatal or postnatal extra marker chromosomes (MC). In four cases, MCs were mosaic and in one of them, the MC was detected in less than 50% of the cells. In three cases, CGH identified the origin of the ...
Polat Ibrahim - - 2005
In this report, we describe 3 cases of pentalogy of Cantrell diagnosed prenatally with sonography. All 3 fetuses had an omphalocele and ectopia cordis; 2 of them also had craniorachischisis, in which the open cranial defect (anencephaly or exencephaly) is continuous with the completely open spine (spinal dysraphism). The association ...
Mukhopadhyay, Amiya Kumar
Porokeratosis is a genodermatosis characterized by abnormal epidermal keratinization with the histological feature of cornoid lamella. There are many clinical variants, but two or more of these variants rarely occur in a single patient. This variation in clinical presentation may be due to the different phenotypic expression of a common ...
Schmidt W A - - 2005
We report three cases of late third trimester fetal death in utero consequent to fetal exsanguination from the chorionic vasculature. In general, fetal hemorrhage is unusual, exsanguination is rare and the location and basis of the hemorrhage varies widely. Intragestational and intrapartum hemorrhage is far more often of maternal rather ...
Eggermann Thomas - - 2005
Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was ...
Kush Michelle L - - 2005
BACKGROUND: Transplacental hemorrhage can be life threatening to a fetus and has important maternal treatment implications. In contrast, hereditary persistence of fetal hemoglobin is a condition that has little consequence. The Kleihauer-Betke test, which is routinely used to document transplacental hemorrhage, will be positive in either case. CASES: We report ...
Marcus-Soekarman D - - 2005
Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas ...
Kovaleva Natalia V - - 2005
The chance of two chromosome abnormalities occurring in one conceptus is very small. However, some authors have suggested that double aneuplodies (DAs) might be more common than the product of their individual frequencies. The nonrandomness of such DA events was considered to be evidence that nondisjunction (NDJ) may be genetically ...
Sebold Courtney Drake - - 2005
The partial trisomy 2q phenotype has been well described in the literature, primarily through cases of unbalanced translocations. While these reports contributed to the initial delineation of the phenotype, reports of de novo duplications are valuable in that they exist in the absence of an accompanying monosomy. We describe a ...
Rose Carl H - - 2005
PURPOSE: To describe the perinatal outcomes after a prenatal diagnosis of non-immune hydrops fetalis (NIHF). METHODS: Retrospective case series. University of Mississippi ultrasound database from July 2000 to January 2003 was reviewed for cases of NIHF. Records abstracted for maternal demographics and neonatal outcomes. RESULTS: Thirty-one cases of NIHF were ...
Monastirli Alexandra - - 2005
We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY ...
Sawyer Jeffrey R - - 2005
Cytogenetic reports of plantar fibromatosis are rare, and to our knowledge no clonal reciprocal translocations have been reported in these lesions. Reciprocal chromosome translocations have been identified in a number of solid tumors and in some cases have helped identify genes involved in their pathogenesis. We report a case of ...
McEwing Rachael L - - 2005
Myelomeningoceles are routinely diagnosed prenatally by using ultrasonography. Because the level of the neural defect has been shown to correlate with functional and cognitive outcome in infants with myelomeningocele, it is of prognostic importance to identify the level prenatally. The authors report on a case in which the postnatal vertebral ...
Tongsong Theera - - 2005
Ebstein anomaly, an abnormally low insertion of the tricuspid valve, occurs in 0.5% of patients with congenital heart disease. In rare cases, this disorder may be complicated by congestive heart failure in utero and hydrops fetalis. This article reports the prenatal sonographic features of 2 cases of Ebstein anomaly associated ...
Cohn Amy C - - 2005
PURPOSE: To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma. METHOD: A case report of a family with balanced translocation without glaucoma and unbalanced translocation with congenital ...
Winter Lindy W - - 2005
We report a case in which a neonate with a prenatal diagnosis of gastroschisis was born with midgut atresia and the mummified remains of the midgut arising from a spontaneously closed abdominal wall defect. As our ability to prenatally diagnose abdominal wall defects has improved, we have gained some insight ...
Dalmia Ritu - - 2005
OBJECTIVE: To report a case of triploidy in a women who conceived after intracytoplasmic sperm injection (ICSI). DESIGN: Case report. SETTING: Maternity unit of a university hospital. PATIENT(S): A 29-year-old woman who was pregnant following intracytoplasmic sperm injection (ICSI). INTERVENTION(S): Ultrasound and serum screening. MAIN OUTCOME MEASURE(S): Amniocentesis and postmortem ...
Liu I-Feng - - 2005
Fetal acrania is uniformly lethal and termination is suggested whenever the diagnosis is made. Traditionally, the diagnostic tool was 2-D ultrasound (US). In this series, we report our work of detecting acrania using 3-D US. We reviewed our medical records of prenatal diagnosis on fetal acrania in National Cheng Kung ...
Tanriverdi H A - - 2005
OBJECTIVE: To determine the associated diagnostic findings which are linked with adverse fetal outcome in nuchal cystic hygroma. STUDY DESIGN: Based on a series of 32 cases, we determined the sonographic morphology of the hygroma, associated structural anomalies, karyotypes and autopsy findings. Intrauterine fetal death, spontaneous abortion and abnormal karyotypes ...
Chen C P - - 2005
During the period January 1987-July 2003, 59 cases of perinatally detected holoprosencephaly (HPE) with cytogenetic results were identified among 97,306 deliveries at Mackay Memorial Hospital. Among these 59 cases with HPE, 25 had euploidy, 27 had numerical aneuploidy, and 7 had structural aneuploidy. In the euploid cases, the male:female sex ...
Lepinard C - - 2005
Septo-optic dysplasia (SOD; De Morsier syndrome) is a rare congenital disorder characterized by the absence of the septum pellucidum (SP), hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. We report on two fetuses with absence of the SP diagnosed by ultrasound examination at 29 and ...
Stassou Stephani - - 2005
Arthrogryposis may result from various neuromuscular or connective tissue disorders leading to in utero hypokinesia or akinesia and the prenatal development of joint contractures. We report the case of a preterm neonate born with arthrogryposis and flaccid quadriplegia that led to the diagnosis of myopathy with muscle spindle excess. The ...
Gorincour Guillaume - - 2005
The objective of our study was to classify, understand, and illustrate abnormalities of the embryologic development of the umbilical vein and the portal system resulting in umbilicoportosystemic shunts. According to our data and a review of the literature, we propose an anatomic, biometric, and hemodynamic assessment of umbilicoportosystemic shunts. Umbilicoportosystemic ...
Suwanrath-Kengpol Chitkasaem - - 2005
OBJECTIVE: To study the etiology and outcome of non-immune hydrops fetalis in southern Thailand. METHODS: The medical records and videotape recordings of all pregnant women diagnosed with non-immune fetal hydrops, from January 1993 to December 2002 were reviewed. RESULTS: Non-immune hydrops fetalis was documented in 71 cases. The causes of ...
Goto Tomohide - - 2004
CBFB at 16q22 heterodimerizes with either RUNX2 (also known as CBFA1) or RUNX1 (CBFA2) to activate the transcription of downstream molecules. RUNX2 regulates osteoblast differentiation and chondrocyte maturation and its haploinsufficiency leads to cleidocranial dysplasia, characterized large fontanelles, hypoplasia or aplasia of the clavicles, hypoplasia of the distal phalanges, and ...
Morales-Roselló José - - 2005
OBJECTIVE: Abdominal circumference is the ultrasound parameter that best correlates with fetal growth. The purpose of this study was to assess whether its proportions change in cases of growth disorders. METHODS: Using the abdominal protuberance ratio(APR) described in a previous paper, the abdominal circumference in fetuses affected by macrosomia and ...
Linhart Jessica M - - 2004
Abnormalities of placental shape are occasionally seen on ultrasound. They have not been reported to be associated with abnormalities in fetal anatomy and karyotype. Here, we report on a rare case of placenta fenestrata with triploid karyotype. A 15-year-old patient presented at 21 weeks and 3 days gestation for ultrasound ...
Agerholm Jorgen S - - 2004
A study was performed to investigate the morphological expression of the inherited syndrome "complex vertebral malformation" (CVM) in Holstein calves. A total of 107 late-term aborted, premature, or neonatal calves suspected of having CVM were necropsied and retrospectively analyzed for the causal mutation in the gene SLC35A3. Sixty-two calves were ...
Kurto─člu Selim - - 2004
The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous ...
Taipale Pekka - - 2004
We present a case of cloacal anomaly that simulated megalocystis in the first trimester of gestation of a female fetus. During the second trimester, repeated paracentesis was necessary to treat increasing ascites, oligohydramnios, and hydronephrosis. Our data support findings that ascites presenting with a multiloculated cystic structure on sonography during ...
Levy R - - 2004
We present a parturient who developed an atypical case of amniotic fluid emboli presented by sudden fetal bradycardia, followed by maternal disseminated coagulopathy. The typical feature of cardiopulmonary collapse was absent in this patient implying that in some cases of amniotic fluid emboli (AFE), fetal hypoxia or acidemia is unrelated ...
Alvi F - - 2004
INTRODUCTION: Skeletal abnormalities are known to be a characteristic feature of the trisomy 8 syndrome, and radiological malformations are often more characteristic than the clinical features. CASE PRESENTATION: We report a mentally retarded male known to have mosaic trisomy 8 syndrome who presented with radial deviation of his right wrist. ...
Ferrás C - - 2004
Deletions of the AZFc region in Yq11.2, which include the DAZ gene family, are responsible for most cases of male infertility and were associated with severe oligozoospermia and also with a variable testicular pathology. To uncover the functional contribution of DAZ to human spermatogenesis, a DAZ gene copy-specific deletion analysis ...
Sleurs E - - 2004
A case of a frontonasal malformation observed during the first trimester with three-dimensional ultrasonography and fetoscopy is reported. Absence of the nasal bone and a poorly characterized nose were visualized at 11 5/7 weeks by two-dimensional ultrasonography. Rendered three-dimensional ultrasound images revealed absence of the nasal bridge, widely spaced frontal ...
Spruijt L - - 2004
We report on a patient with a de novo 15q24q26.1 interstitial deletion. She presented with developmental delay, behavioral characteristics, and mild dysmorphism with very blue irises. We review the limited literature of interstitial 15q deletions. There was no distinct phenotypic overlap between these two cases in literature and the present ...
Scheuerle Angela - - 2004
The Antiretroviral Pregnancy Registry (APR) is an international pregnancy exposure registry designed to monitor prenatal antiretroviral medication exposures and detect any potential increase in the risk of major birth defects. The APR process imitates that of the Metropolitan Atlanta Congenital Defects Program (MACDP) modified to account for the differences in ...
Malloy Colleen Ann - - 2004
Hydrops fetalis is a condition of diverse etiologies. An association between hemophagocytic lymphohistiocytosis (HLH) and hydrops fetalis has not been reported in the English literature. We describe an intrauterine case of HLH in an infant who presented with hydrops fetalis at 32 weeks gestation. We suggest that HLH should be ...
Lee Soong Deok - - 2004
The present study was conducted to investigate the potential anatomical source of amniotic fluid neutrophils. Microdissection of neutrophils from the chorioamnion of the fetal membranes and the amnion of the chorionic plates of 10 preterm placentas with acute chorioamnionitis was performed and the genotypes of the neutrophils were compared with ...
Brun M - - 2004
OBJECTIVE: To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management. METHODS: A retrospective multicenter study was conducted in four prenatal diagnostic centers. ...
Loo Christine K C - - 2004
AIMS: To confirm the validity of the method of diagnosing fetal ventriculomegaly at autopsy by measuring cerebral mantle thickness at the frontal lobe and to further evaluate whether taking three measurements at three separate sites is even more reliable. METHODS: The thickness of the cerebral mantle was measured at three ...
Martinez Antonio E - - 2004
We describe the case of a 31-week fetus who died in utero with an invasive retroperitoneal kaposiform hemangioendothelioma. This rare vascular neoplasm usually presents as a localized violaceous skin lesion in infants and behaves in a benign fashion; however, kaposiform hemangioendothelioma may present as an invasive neoplasm of the chest ...
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