1/26. Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax.We report the first case of mosaic trisomy 21 with non-immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro-amniotic shunt, was performed. A clinical phenotype of down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow-up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism.- - - - - - - - - - ranking = 1keywords = cell (Clic here for more details about this article) |
2/26. prenatal diagnosis and genetic analysis of double trisomy 48,XXX, 18.prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26-year-old, para 1 woman was referred for genetic counselling at 36 weeks' gestation with the sonographic findings of intrauterine growth retardation (IUGR), polyhydramnios, ventricular septal defect, and an enlarged cisterna magna. Both cordocentesis and amniocentesis revealed a consistent karyotype of 48,XXX, 18. Quantitative fluorescent polymerase chain reaction using polymorphic small tandem repeat markers specific for chromosomes 18 and X rapidly determined that both aneuploidies arose as a result of non-disjunction in maternal meiosis II. Our case shows that two non-disjunction events can occur not only in the same parent, but also in the same cell division. Our case also shows that double trisomy, 48,XXX, 18, can demonstrate an enlarged cisterna magna, IUGR and polyhydramnios in prenatal ultrasound.- - - - - - - - - - ranking = 0.25keywords = cell (Clic here for more details about this article) |
3/26. High levels of fetal erythroblasts and fetal extracellular dna in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report.Abnormal amniotic fluid volume can be associated with increased maternal risk as well as perinatal morbidity and mortality. polyhydramnios is often indicative of fetal, placental or maternal problems. In a large proportion of patients the aetiology of the disorder is unclear. Here we report on a case in which numerous fetal erythroblasts and large quantities of extracellular fetal dna were found in the peripheral blood of a pregnant woman with idiopathic polyhydramnios bearing a male fetus. Following enrichment of erythroblasts by magnetic separation (MACS) and anti-CD71 antibodies, approximately 45-fold more erythroblasts were determined per ml peripheral maternal blood than in matched controls (231 versus 5). Single cell multiplex polymerase chain reaction (PCR) of individually micromanipulated erythroblasts showed that approximately 122 of these were of fetal origin. The concentration of extracellular fetal circulatory dna in maternal plasma was determined by real-time quantitative PCR and shown to be almost double that of the control group (749.2 versus 404 fetal genome equivalents per ml maternal plasma). It can be speculated that the increased intrauterine pressure in polyhydramnios leads to an enhanced influx of fetal cells and free extracellular fetal dna into the maternal circulation. This hypothesis will have to be tested with further cases.- - - - - - - - - - ranking = 2.25keywords = cell (Clic here for more details about this article) |
4/26. Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.Fetal akinesia deformation sequence (FADS) is a rare condition characterized by intrauterine growth retardation (IUGR), congenital limb contractures, pulmonary hypoplasia, hydramnios and craniofacial abnormalities. The present report comprises an autopsy study of three fetuses to illustrate the variable clinical manifestations and neuropathological findings. fetus 1 had arthrogryposis and no movement on fetal ultrasound examination. Aborted at 21 weeks, the fetus showed micrognathia, bilateral joint contracture with pterygia at the elbow and axilla. growth retardation and pulmonary hypoplasia were not major features. Neuropathologic examination revealed anterior horn cell loss and lateral corticospinal tract degeneration in spinal cord, with marked muscular atrophy. fetus 2, 20 weeks' gestation, had fetal akinesia, nuchal thickening, left pleural effusion, and Dandy-Walker malformation on ultrasound examination. autopsy showed low-set ears, ocular hypertelorism, cleft palate, flexion contractures with pterygia over axilla, elbow and groin, pulmonary hypoplasia, Dandy-Walker malformation, unremarkable spinal cord and skeletal muscle. fetus 3, 21 weeks' gestation, was aborted for fetal akinesia, neck and limb webbing and severe arthrogryposis. At autopsy, similar facial abnormalities, contracture and pterygia in neck and multiple major joints were found. Borderline pulmonary hypoplasia and severe lumbar scoliosis were also present. The brain, spinal cord and muscle were unremarkable. In these three fetuses, the prenatal ultrasound and autopsy findings were characteristic of FADS. Neurogenic spinal muscular atrophy was the basis of fetal akinesia in Case 1. Dandy-Walker malformation was present in Case 2, but the pathogenetic mechanism of fetal akinesia was not clear as spinal cord and muscle histology appeared normal. The etiology of akinesia was undetermined in Case 3; no extrinsic or intrinsic cause was identified.- - - - - - - - - - ranking = 0.25keywords = cell (Clic here for more details about this article) |
5/26. Congenital mesoblastic nephroma associated with polyhydramnios and hypercalcemia.Congenital mesoblastic nephroma (CMN) can present with atypical clinical and imaging findings. A premature male neonate was born to an 18-year-old woman after 33 weeks' gestation, which was complicated by polyhydramnios and placenta abruptio. A right abdominal mass was diagnosed antenatally. From the 1st day of life, the newborn had hypercalcemia with initially normal parathormone levels and polyuria for the first hours of life and normal urine output afterwards. Ultrasonographic study and magnetic resonance imaging of the abdomen showed at the upper pole of the right kidney a heterogeneous, solid, poorly defined mass, partially surrounded by a subcapsular fluid collection mimicking malignant rhabdoid tumor of the kidney. Surgical resection revealed a CMN of mixed, classic, and in areas, cellular type. One year after the resection, the patient is asymptomatic and normocalcemic. In conclusion, CMN may present with atypical clinical and imaging findings, necessitating an extensive work-up in order to exclude highly malignant renal tumors of the neonatal period.- - - - - - - - - - ranking = 0.25keywords = cell (Clic here for more details about this article) |
6/26. Pallister-Killian syndrome: difficulties of prenatal diagnosis.The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.- - - - - - - - - - ranking = 0.25keywords = cell (Clic here for more details about this article) |
7/26. prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization.We report a case of Pallister-Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33-year-old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence of the cisterna magna. cytogenetic analysis of cultured amniocytes was initially interpreted as mosaic tetrasomy 21: 46,XX/47,XX, i(21q). The patient was then referred to our centre for genetic counselling. At 34 weeks' gestation, a dysmorphic infant was delivered and died within 30 min. Physical features were consistent with the Pallister-Killian syndrome. Renal, gastrointestinal, and central nervous system anomalies were found at post-mortem examination. Analysis of peripheral lymphocytes revealed 5 per cent of cells with a marker chromosome, while 92 per cent of cultured fibroblasts had this same marker. Fluorescent in situ hybridization (FISH) using an alpha-satellite probe for chromosomes 13 and 21 failed to hybridize to the marker, while a chromosome 12 centromeric probe unequivocally identified it as an i(12p). Use of FISH can provide rapid, specific prenatal diagnosis of ambiguous marker chromosomes and improve prenatal counselling.- - - - - - - - - - ranking = 0.25keywords = cell (Clic here for more details about this article) |
8/26. Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques.OBJECTIVE: This study aimed to identify a marker chromosome and characterize the short arm of a derivative chromosome 5 in a foetus with the following karyotype: mos 47,XX,del(5)(p?), i(5)(p10)[50]/48,XX,del(5)(p?), i(5)(p10), mar[25]. METHOD: amniocentesis was performed in the 26th week of pregnancy because of ultrasound abnormalities (polyhydramnion and decreased amount of gastric filling). All classic banding techniques were performed. FISH and microdissection combined with reverse painting were used to reveal the exact origin of the marker and any extra material on the deleted chromosome 5p. The parents decided to continue the pregnancy and we compared the clinical features of the child born in week 34 with data from the literature on trisomy 5p. The possible contribution of trisomy of the centromeric region of chromosome 8 and trisomy 8p23.3-->8pter to this clinical picture was evaluated. RESULTS: GTG banding showed one normal and two aberrant chromosomes 5 [del(5)(p?) and i(5)(p10)] in all the cells examined. Furthermore, a supernumerary marker chromosome was present in approximately 30% of the cells. The marker was CBG positive and positive with the pancentromere probe, but dystamicinA/DAPI negative. It did not contain NOR-positive satellites. FISH proved this marker to be derived from the centromeric region of chromosome 8. MicroFISH disclosed the aberrant chromosome 5 as der(5)t(5;8)(p10;p23.3). The parent's karyotypes were normal. The baby showed the characteristic features of trisomy 5p syndrome. She died at the age of 15 days after cardiorespiratory arrest. CONCLUSION: The karyotype was interpreted as mos 47,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3), i(5)(p10) (WCP5 ,D5S23 )[50]/48,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3), i(5)(p10)(WCP5 ,D5S23 ), mar.ish 8(p10q10)(D8Z2 ,WCP8-)[25]. Therefore, the baby had complete trisomy 5p, with trisomy of the distal part of 8p and of the centromeric region of chromosome 8. The clinical significance of de novo marker chromosomes is a major problem in prenatal counselling. Molecular cytogenetic tools such as FISH and microFISH are indispensable for characterizing markers and determining the breakpoints more precisely in deleted chromosomes.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
9/26. A rare case of a false-negative finding in both direct and culture of a chorionic villus sample.A discrepancy is reported between the karyotype of both direct and cultured chorionic villus cells (46,XX) and a fetal skin biopsy (47,XX, 18). The significance of this result is discussed and compared with similar discordant findings reported in the literature.- - - - - - - - - - ranking = 0.25keywords = cell (Clic here for more details about this article) |
10/26. A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts.- - - - - - - - - - ranking = 0.25keywords = cell (Clic here for more details about this article) |
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