bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples
Authors: Castellví‐Bel Sergi , Milà Montserrat , Soler Anna , Carrió Ana , Sánchez Aurora , Villa Margarita , Jiménez M Dolores , Estivill Xavier 
Published: March 2007

AbstractFragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)n trinucleotide repeat in the FMR‐1 gene and hypermethylation of its 5′ upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of chorionic villus samples (CVS) and the inability to predict the mental status of females with the full mutation. We present here the results of ten prenatal diagnoses of fragile X syndrome using Southern blotting and polymerase chain reaction (PCR) amplification, and the analysis of 50 further CVS to test the methylation status of the CpG island of the FMR‐1 gene. In the ten ‘at‐risk’ CVS, eight normal (five males and three females) and two affected male fetuses were detected. Absence of methylation in the CVS was observed in two cases, which was not found upon subsequent examination of the newborn or of fetal tissues. In the 50 CVS not ‘at risk’ for fragile X syndrome, abnormal fragment patterns for probe StB12.3 were detected in 32 per cent for female and 24 per cent for male fetuses. This abnormal pattern could be due to absent or partial methylation of the CpG island of the FMR‐1 gene in chorionic villus tissues.
Pregnancy outcome after transcervical cvs with a flexible biopsy forceps: Evaluation of risk factors
Authors: Lunshof Simone , Boer Kees , Leschot Nico J. , Pomp Marc , Wolf Hans 
Published: March 2007

AbstractThe pregnancy outcome of 1936 women who had transcervical chorionic villus sampling (CVS) with a flexible biopsy forceps was evaluated. Follow‐up until 4 weeks after delivery was 99.4 per cent. Various patient‐ and procedure‐related risk factors for spontaneous loss (fetal or neonatal death) were analysed using stepwise logistic regression analysis. The overall spontaneous loss rate was 4.5 per cent. Factors found to be significantly associated with spontaneous loss were quantity of villi ≤ 15 mg (relative risk (RR) 2.13), a history of first‐trimester miscarriage (RR 1.87) or delivery between 16 and 27 weeks (RR 3.87), cervical culture positive for anaerobes (RR 4.52) or group B streptococcus (RR 3.62), post‐procedural bleeding >3 days (RR 1.99), and multiple insertions (RR 2.64). Significant differences in loss rates between individual operators were found. A learning effect was not present. There were no infants born with terminal transversal limb anomalies in our series.
Isolated fetal hydronephrosis: Beware the effect of bladder filling
Authors: Petrikovsky Boris M. , Cuomo Margaret I. , Schneider Elizabeth P. , Wyse Linda J. , Cohen Harris L. , Lesser Martin 
Published: March 2007

AbstractThe aim was to assess the role that fetal bladder size has in the determination of fetal hydronephrosis. Forty‐three fetuses were evaluated for fetal hydronephrosis in the second trimester of pregnancy. Anteroposterior measurements of the renal pelvis were obtained with a full bladder and again when the bladder emptied in each fetus. Statistical analysis was performed using the Spearman rank order correlation coefficient to assess the relationship between bladder status and renal dilation. The anteroposterior size of the fetal renal pelvis diminished from 6.8 ± 1.8 mm on a full bladder scan to 4.5 ± 1.6 mm when the bladder was emptied (P<0.001). Fifty‐three per cent of the fetuses whose renal pelvic measurements were 5 mm or more on a full bladder scan had normal‐appearing renal pelvises when their bladders emptied. The status of the fetal bladder should be considered when evaluating fetal hydronephrosis.
Chromosome 18 analysis by fluorescence in situ hybridization (fish) in human blastomeres of abnormal embryos after in vitro fertilization (ivf) attempt
Authors: Bergere M. , Selva J. , Baud M. , Volante M. , Martin B. , Hugues J. N. , Olivennes F. , Frydman R. , Auroux M. 
Published: March 2007

AbstractWe performed fluorescence in situ hybridization (FISH) with a chromosome 18‐specific probe on human abnormal cleaved embryos, fertilized either by two spermatozoa and exhibiting three pronuclei (3 PN) or normally fertilized and exhibiting two pronuclei (2 PN) with subsequent severe fragmentation and/or blocking. The aim of the study was to evaluate the incidence of chromosome 18 anomalies among these embryos, in order to evaluate the FISH efficiency on such material and to obtain more precise and complete data than those obtained with classical cytogenetic analysis. For the 3 PN cleaved embryos, FISH confirmed the frequent regulation towards diploidy (25 per cent) and the high frequency of mosaics (53 per cent). For the 2 PN blocked or damaged embryos, FISH permitted chromosome evaluation, which was otherwise impossible with classical cytogenetic techniques: we also found a high mosaic frequency (45 per cent) with these embryos. If this frequency were the same for normally developing embryos, it would be a major obstacle to the reliability of either chromosomal or genetic preimplantation diagnosis.
The prognostic factors in the prenatal diagnosis of the echogenic fetal lung
Authors: Barret Jon , Chitayat David , Sermer Matthew , Amankwah Koffi , Morrow Robert , Toi Ants , Ryan Greg 
Published: March 2007

AbstractThe prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high‐resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non‐immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.
Prenatal diagnosis of smith–lemli–opitz syndrome is possible by measurement of 7‐dehydrocholesterol in amniotic fluid
Authors: Dallaire L. , Mitchell G. , Giguère R. , Lefebvre F. , Melançon S. B. , Lambert M. 
Published: March 2007

AbstractAmniocentesis was performed at 17.3 weeks in a pregnancy with severe intrauterine growth retardation. Cytogenetic studies on amniocytes were normal, 46,XX, and the pregnancy was continued. The diagnosis of Smith–Lemli–Opitz syndrome was suspected in the neonatal period and confirmed by the presence of 7‐dehydrocholesterol (7‐DHC) in the plasma (0.4 mmol/l, normal = not detectable) associated with a low total cholesterol concentration (0.4 mmol/l, normal = 2.56 ± 0.23). Retrospective analysis of the amniotic fluid sample revealed an elevated level of 7‐DHC (0.022 mmol/l; normal = undetectable). Therefore measurement of 7‐DHC levels in amniotic fluid during the second trimester of pregnancy is useful for the prenatal diagnosis of Smith–Lemli–Opitz syndrome in families at risk and should be considered in cases of severe growth retardation of unknown aetiology for which amniotic fluid is available and in which a normal chromosomal pattern in amniocytes is present.
Flow sorting of fetal erythroblasts using intracytoplasmic anti‐fetal haemoglobin: Preliminary observations on maternal samples
Authors: Zheng Yun‐Ling , Demaria Maryann , Zhen Dongkai , Vadnais Theresa J. , Bianchi Diana W. 
Published: March 2007

AbstractMonoclonal antibody to fetal haemoglobin (a2γy2) has been proposed as a fetal‐specific reagent. We developed an intracellular staining protocol that combines fluorescein isothiocyanate or phycoerythrin conjugated anti‐γ with the DNA binding dye Hoechst 33342 to identify and flow sort fetal erythroblasts from maternal blood. Our preliminary observations on anti‐γ‐positive cells sorted from four different pregnant women are described here, using fluorescence in situ hybridization (FISH) with chromosome‐specific probes to identify fetal cells. Our data demonstrate that far fewer candidate fetal cells are sorted with this protocol than by current cell surface staining methods that employ the monoclonal antibody CD71. This results in increased fetal cell sorting purities. With this protocol, standard FISH techniques require modification due to the rigorous fixation with 4 per cent paraformaldehyde. Our initial data indicate the promise of this approach.
Isolating fetal nucleated red blood cells from maternal blood: The baylor experience—1995
Authors: Simpson Joe Leigh , Lewis Dorothy E. , Bischoff Farideh Z. , Elias Sherman 
Published: March 2007

AbstractIn our previous work we have isolated fetal cells from maternal blood and used fluorescent in situ hybridization (FISH) for chromosome‐specific probes to detect aneuploidy. Current efforts in the Baylor College of Medicine programme are focusing on obtaining consistency in flow‐sorting methodology and on determining sensitivity and specificity. To this end, systematic evaluation of five glycophorin A (gly A) antibodies all produced agglutination, leading us to abandon the use of gly A antibodies for positive selection of fetal cells. Conversely, we have found LDS‐751 to be useful for nuclear selection. CD45 negative selection can best be accomplished by the use of flasks coated with goat antibodies against mouse antibodies. Positive selection by flow sorting for either CD71+ cells or gamma‐globin‐positive cells seems to be successful. Using these two approaches, we have recently detected male (fetal) cells in pregnancies in which the fetus was 46, XY in 10 of 18 and in 12 of 14 cases, respectively.
Enrichment of fetal nucleated cells from maternal blood: Model test system using cord blood
Authors: Andrews Kathryn , Wienberg Johannes , Ferguson‐Smith Malcolm A. , Rubinsztein David C. 
Published: March 2007

AbstractThe presence of small numbers of fetal nucleated red cells in the maternal circulation has been a stimulus for the development of technologies for non‐invasive prenatal genetic analysis. Our laboratory has been assessing the feasibility of density gradient centrifugation followed by magnetic activated cell sorting (MACS) of cells expressing CD32 and CD45, to deplete maternal nucleated blood cells. We have examined the efficiency of each of the steps of this procedure using cord blood from term pregnancies as a source of nucleated red blood cells. Cord blood was shown to contain highly variable numbers of nucleated red cells. Three different density gradients were examined. There was no major difference in the performances of the double and triple gradients. Density gradient centrifugation resulted in enrichments of nucleated red blood cells of about 1000‐fold relative to the total cell count. However, it was apparent that the selection of the cell layers which were most enriched for these cells would result in significant losses of nucleated red cells in other layers. MACS sorting of cells using CD45 resulted in white cell depletions ranging from 7 to 34‐fold. These data provide a foundation for comparison with other methods and for optimization of the MACS technique.
Methods for the transcervical collection of fetal cells during the first trimester of pregnancy
Authors: Rodeck Charles , Tutschek Boris , Sherlock Jon , Kingdom John 
Published: March 2007

AbstractBefore termination of pregnancy, four techniques for retrieving fetal cells transcervically were investigated: uterine lavage, endocervical lavage, cytobrush and mucus aspiration. The yield of fetal cells in these samples was studied and found to be somewhat better after uterine lavage. A preliminary assessment of the safety of mucus aspiration was carried out before transcervical chorionic villus sampling (CVS) in continuing pregnancies. No difference in outcome to a control group having only CVS was found.
Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel
Authors: Shohat Mordechai , Akstein Edna , Davidov Bella , Barkai Gad , Legum Cyril , David Miriam , Dar Hanna , Romem Yitzhak , Amiel Aliza , Cohen Hana , Bach Gideon , Ben‐Neriah Ziva , Sheffer Ruth N. , Appelman Zvi , Chemke Juan , Zadka Pnina , Zer Tamy , Goldman Boleslaw 
Published: March 2007

AbstractWe investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P<0·03) in the incidence of DS live‐births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally. Private laboratories, which perform amniocenteses mostly for women with a low risk of DS and without genetic counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women ≥ 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (≥37 years) alone (111:9604 versus 94:9810; P<0·06). Prenatal detection of DS is most effective when the indication for amniocentesis follows genetic counselling. The increasing use of maternal serum marker screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.
Early amniocentesis and fetal nuchal translucency in women requesting karyotyping for advanced maternal age
Authors: Salvesen Douglas R. , Goble Orla 
Published: March 2007

AbstractFetal nuchal translucency was measured at 11–14 weeks' gestation in 97 pregnancies referred for early amniocentesis for advanced maternal age. The nuchal translucency was abnormal in 11 fetuses and the fetal karyotype was abnormal in five of these 11 cases. The karyotype was normal in 86 cases with normal nuchal translucency. The culture failure and miscarriage rates associated with early amniocentesis were 3·3 per cent and 2·2 per cent respectively. Amniotic fluid leakage occurred in 6 per cent of cases. In women requesting fetal karyotyping for advanced maternal age without additional biochemical screening, fetal nuchal translucency should be measured at 11–14 weeks. If the nuchal thickness is ≥ 3 mm, a first‐trimester diagnostic procedure is indicated; however, if it is <3 mm, amniocentesis should be delayed until 16 weeks' gestation.
Complications of cordocentesis in high‐risk pregnancies: Effects on fetal loss or preterm delivery
Authors: Bernaschek Gerhard , Yildiz Akgun , Kolankaya Aytug , Stuempflen Ingrid , Deutinger Josef 
Published: March 2007

AbstractBetween 1990 and 1993, 166 cases underwent cordocentesis and were followed for at least the following 4 weeks in the Prenatal Diagnosis and Therapy Centre of Vienna University. The indications for the procedure were structural malformations in 46·4 per cent of the cases, other high‐risk diagnoses in 48·8 per cent, and maternal age over 35 years in only 4·8 per cent. We investigated retrospectively all cases of complications resulting in fetal loss or preterm labour. Abortion, intrauterine fetal death, chorioamnionitis, and preterm delivery occurred in 0·6, 5·4, 0·6 and 9·0 per cent of these cases, respectively, adding up to a total of 26 cases (15·7 per cent). Although this rate looks relatively high, 20 of the 26 cases had already displayed signs implying a complicated prognosis. Neither maternal age, gestational age, number of attempts, nor placental location correlated with fetal loss or preterm delivery. Significantly higher rates of fetal loss or preterm delivery were observed when cordocentesis was performed in cases diagnosed as duodenal/intestinal stenosis or hydrops–ascites–hydrothroax/hygroma colli (P=0·0488 and P=0·0005). The frequency of complications did not decrease as the experience of the operators increased.
Cardiac flow after fetal blood sampling in normally grown and growth‐retarded fetuses
Authors: Capponi Alessandra , Rizzo Giuseppe , Rinaldo Donatella , Arduini Domenico , Romanini Carlo 
Published: March 2007

AbstractThe objective of this study was to evaluate the effect of fetal blood sampling on cardiac flow velocity waveforms. Flow velocity waveforms were measured from the ascending aorta and pulmonary artery immediately before and after fetal blood sampling in 29 normally grown and 12 growth‐retarded fetuses. The latter group was characterized by abnormal Doppler indices in the umbilical artery and middle cerebral artery suggestive of uteroplacental insufficiency as the causative factor of the impaired growth. The flow velocity parameters studied were the peak velocity, the time to peak velocity, and the left and right cardiac output and their ratio. In normally grown fetuses, the peak velocity and right and left cardiac output values increased significantly after fetal blood sampling, while no significant changes were observed in the other indices considered. The gestational age at the time of the procedure was positively related to the amplitude of these changes. In growth‐retarded fetuses, fetal blood sampling did not induce any significant increase in cardiac output or peak velocities, while in more than 50 per cent of the fetuses these Doppler indices decreased. The amplitude of the decrease was significantly related to the severity of acidosis in the umbilical vein. In conclusion, the cardiac haemodynamic response to fetal blood sampling differs between normally grown and growth‐retarded fetuses. This difference may explain the higher rate of complications occurring in the latter group of fetuses after blood sampling.
Mosaicism for trisomy 12: Four cases with varying outcomes
Authors: Bischoff Farideh Z. , Zenger‐Hain Julie , Moses David , van Dyke Daniel L. , Shaffer Lisa G. 
Published: March 2007

AbstractTrisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low‐level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low‐level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non‐disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.
Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis
Authors: Marinkovich M. Peter , Meneguzzi Guerrino , Burgeson Robert E. , Blanchet‐Bardon Claudine , Holbrook Karen A. , Smith Lynne T. , Christiano Angela M. , Ortonne Jean‐Paul 
Published: March 2007

AbstractHerlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin‐5 (kalinin/nicein), which mediates keratinocyte attachment and dermal–epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin‐5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal secondtrimester control pregnancies, but was undetectable in second‐trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non‐Herlitz JEB, laminin‐5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin‐5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the β2 subunit was partially processed to 105 kD. Although laminin‐5 was covalently associated with laminin‐6 (K‐laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin‐5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second‐trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin‐5 may serve a physiologically important function in amniotic fluid.
Fetal urinary insulin‐like growth factor I and binding protein 3 in bilateral obstructive uropathies
Authors: Bussieres L. , Laborde K. , Souberbielle J. C. , Muller F. , Dommergues M. , Sachs C. 
Published: March 2007

AbstractFetal urinary concentrations of insulin‐like growth factor I (UIGF‐I) and binding protein 3 (UIGFBP‐3) were determined in patients with prenatal diagnosis of bilateral obstructive uropathy. Patients were retrospectively assigned to three groups, on the basis of outcome: group 1, termination of pregnancies (n = 11) with sonographic evidence of severe oligohydramnios or renal dysplasia, confirmed at histological examination; group 2, patients (n = 10) with postnatal plasma creatinine > 50 μmol/1 at the age of 1 year (1 yr‐pCreat); and group 3, patients (n = 16) with 1 yr‐pCreat ≤ μmol/1. The results show a significant increase in UIGF‐I and UIGFBP‐3 in groups 1 (18 159 ± 9083 pg/ml; 2657 ± 669 ng/ml) and 2 (1574 ± 847 pg/ml; 176 ± 50 ng/ml) in comparison with group 3 (35 ± 6 pg/ml; 21 ± 2 ng/ml). UIGF‐I and UIGFBP‐3 were significantly correlated with postnatal plasma creatinine, and were both sensitive (90 per cent; 80 per cent) and specific (88 per cent; 88 per cent) for prediction of elevated 1 yr‐pCreat (>50 μmol/1). Fetal urinary IGF‐I and IGFBP‐3 are increased in severe fetal bilateral obstructive uropathy, possibly reflecting tubular dysfunction or/and increased synthesis consequent upon fetal kidney injury. Their predictive value for postnatal renal function needs further assessment.