bluuebunny/crossref_metadata_2025_split huggingface dataset:
Synthesis of poly[(2‐oxo‐1,3‐dioxolane‐ 4‐yl)methyl methacrylate‐co‐styrene] by addition reaction of carbon dioxide and its compatibility with poly(methyl methacrylate) or poly(vinyl chloride)
Authors: Park Sung‐Young , Park Hee‐Young , Woo Hang‐Soo , Ha Chang‐Sik , Park Dae‐Won 
Published: September 2002

AbstractWe investigated the chemical fixation of carbon dioxide (CO
2) to a copolymer bearing epoxide and the application of the cyclic carbonate group containing copolymer to polymer blends. In the synthesis of poly[(2‐oxo‐1,3‐dioxolane‐4‐yl)methyl methacrylate‐co‐styrene] [poly(DOMA‐co‐St)] from the addition of CO
2 to poly(glycidyl methacrylate‐co‐styrene) [poly(GMA‐co‐St)], quaternary ammonium salts showed good catalytic activity at mild reaction conditions. The CO
2 addition reaction followed pseudo first‐order kinetics with the concentration of poly(GMA‐co‐St). In order to expand the applications of the CO
2 fixed copolymer, polymer blends of this copolymer with poly(methyl methacrylate) (PMMA) or poly(vinyl chloride) (PVC) were cast from N,N′‐dimethylformamide (DMF) solution. Miscibility of blends of poly(DOMA‐co‐St) with PMMA or PVC have been investigated both by differential scanning calorimetry (DSC) and visual inspection of the blends, and the blends were miscible over the whole composition ranges. The miscibility behaviors were also discussed in terms of FT‐IR spectra. Copyright © 2002 John Wiley & Sons, Ltd.
Cellulose membranes grafted with vinyl monomers in a homogeneous system
Authors: Ibrahim Maha M. , Flefel Eman M. , El‐Zawawy Waleed K. 
Published: September 2002

AbstractThe homogeneous grafting of hydrophilic monomer onto cellulose derivatives was carried out in an aqueous system at 30, 50, 70 and 90 °C during reaction periods of 30 to 180 min. The graft polymer was isolated by ethanol from the reaction mixture, dried, and weigh. The grafted polymer was characterized by IR spectroscopy as well as microscopic sample morphology detected by electron scanning microscopy. The water absorption capacities and grafting values of grafted cellulose derivatives were also determined. The maximum grafting yield was obtained at 30 °C. Copyright © 2002 John Wiley & Sons, Ltd.
Microsatellite analysis provides efficient confirmation of fetal trophoblast isolation from maternal circulation
Authors: Koumantaki Yvoni , Sifakis Stavros , Dragatis Georgios , Matalliotakis Ioannis , Froudarakis Georgios , Papadopoulou Eleftheria , Koumantakis Eugenios 
Published: September 2002

AbstractFetal trophoblasts can be found in maternal circulation from an early stage of pregnancy and thus provide a potential source of DNA for non‐invasive prenatal diagnosis. We have developed a two‐step method for trophoblast isolation between the 8th and 12th week of pregnancy. Blood was sampled from 14 women undergoing termination of pregnancy or spontaneous abortion. Immunomagnetic beads precoated with HLA class I and II, and with anti‐cytokeratin‐18 monoclonal antibodies, were used to remove CD8+ and other maternal cells, and to select for fetal trophoblasts, respectively. Microsatellite analysis was performed on DNA extracted from the isolated, maternal, paternal and placental cells after PCR amplification. Recovery of the trophoblasts was confirmed in 13/14 cases (93%) by the identification of an identical microsatellite pattern for fetal and placental cells. Further evidence was the presence of heterozygous alleles of both maternal and paternal origin. The correct prediction of gender in all five male fetuses was an additional confirmation of trophoblast recovery. We conclude that trophoblasts can be effectively isolated from maternal blood in the first trimester, and by using polymorphic microsatellite markers to confirm sample purity, this method has potential future application in prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.
Two unbalanced segregation products due to a maternal t(7;16)inv(16)
Authors: Leegte Beike , Sikkema‐Raddatz Birgit , Hordijk Roel , Davelaar Inge , van der Veen Anneke , Cobben JanMaarten 
Published: September 2002

AbstractWe report a prenatal case of a maternally inherited abnormal chromosome 16, originally interpreted as a pericentric inversion only, but after family studies re‐interpreted as a pericentric inversion (16) accompanied by an unbalanced (7;16) translocation. Because of the inversion 16 and an elder son with developmental delay and craniofacial dysmorphic features, in the past karyotyped as 46,XY, the chromosomes 16 of the mother and son were carefully re‐examined. Using a whole chromosome 16 paint and sub‐telomere probes of 16p and 16q, the karyotype of the mother was shown to be 46,XX,inv(16)(p11.2q23.2).ish t(7;16)(q36;p13.3)inv(16). Subsequently one chromosome 16 of the elder son appeared to be a der(16)t(7;16)(q36;p13.3). This is probably the result of a meiotic crossover between the chromosomes 16 in the mother. The prenatal karyotype was finally interpreted as 46,XY,inv(16)(p11.2q23.2).ish der(16)t(7;16)(q36;p13.3)inv(16). This is the same cytogenetic imbalance as his elder brother: a partial trisomy of chromosome 7 (q36→qter) and a partial monosomy of chromosome 16 (p13.3→pter). Copyright © 2001 John Wiley & Sons, Ltd.
Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening
Authors: G. Ryall Richard , Callen David , Cocciolone Robert , Duvnjak Amra , Esca Renata , Frantzis Niki , M. Gjerde Elizabeth , A. Haan Eric , Hocking Trudy , Sutherland Grant , W. Thomas David , Webb Fiona 
Published: September 2002

AbstractOf the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) of these pregnancies, including 16 with early fetal loss. Interrogation of the database of the South Australian Neonatal Screening Service showed 643 live‐born infants whose phenotype was not subsequently questioned among the 694 pregnancies whose karyotype was not determined. Of the remaining 51/3431 pregnancies, 19 ended in early fetal loss without karyotyping and no newborn screening or other records could be found for 32 cases. The 129 instances of abnormal karyotype found were Down syndrome (84), trisomy 18 (four), trisomy 13 (three), triploidy (two), female sex chromosome aneuploidy (six) and male sex chromosome aneuploidy (five), inherited balanced rearrangements (19), mosaic or de novo balanced abnormalities (four) and unbalanced karyotypes (two). In the pregnancies declared at increased risk of fetal Down syndrome, only the karyotype for Down syndrome occurred with a frequency greater than that expected for the general, pregnant population. Copyright © 2001 John Wiley & Sons, Ltd.
Three‐ versus two‐dimensional ultrasound for nuchal translucency thickness measurements: comparison of feasibility and levels of agreement
Authors: Eppel Wolfgang , Worda Christof , Frigo Peter , Lee Andreas 
Published: September 2002

AbstractWe have determined feasibility and levels of agreement for visualizing the nuchal translucency within a time limit with three‐dimensional (3D) and two‐dimensional (2D) transvaginal ultrasound. A total of 213 women of median gestational age 13 weeks (range 11–14 weeks) undergoing first‐trimester nuchal translucency (NT) thickness measurements with 2D transabdominal ultrasound were included in the study. Additionally all women underwent 2D and 3D transvaginal NT examination within a time limit of 90 s. These two methods were compared with each other and with our standard method (2D transabdominal ultrasound) with respect to visualization of fetal nuchal fold and to the levels of agreement. The nuchal fold was visualized by 3D and 2D transvaginal ultrasound in 85.9% (95% CI: 80.5%, 90.3%) and 25.8% (95% CI: 20.1%, 32.2%), respectively (p<0.001). There was a statistically significant underestimation of the NT by 2D transabdominal as compared with 3D transvaginal ultrasound of 0.1 mm (p<0.001), and by 3D transvaginal as compared with 2D transvaginal ultrasound of even 0.1 mm (p<0.001). 3D transvaginal ultrasound of the nuchal fold has increased feasibility to 2D transvaginal ultrasound within a short examination time and with minimal, but significant, measurement differences. Copyright © 2001 John Wiley & Sons, Ltd.
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening
Authors: Amiel Jeanne , Gigarel Nadine , Benacki Alexandra , Benit Paule , Valnot Isabelle , Parfait Béatrice , Von Kleist‐Retzow Jurgen‐Christoph , Raclin Valérie , Hadj‐Rabia Smaïl , Dumez Yves , Rustin Pierre , Bonnefont Jean‐Paul , Munnich Arnold , Rötig Agnès 
Published: September 2002

AbstractRespiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early‐onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two‐fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH‐Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease‐causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.
Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann‐de Lange syndrome
Authors: Marino Teresa , Wheeler Patricia G. , Simpson Lynn L. , Craigo Sabrina D. , Bianchi Diana W. 
Published: September 2002

AbstractWe describe two independent cases of Brachmann‐de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology. Copyright © 2002 John Wiley & Sons, Ltd.
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
Authors: Bianchi D. W. , Simpson J. L. , Jackson L. G. , Elias S. , Holzgreve W. , Evans M. I. , Dukes K. A. , Sullivan L. M. , Klinger K. W. , Bischoff F. Z. , Hahn S. , Johnson K. L. , Lewis D. , Wapner R. J. , Cruz F. de la 
Published: September 2002

AbstractObjectivesThe National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY) is a prospective, multicenter clinical project to develop non‐invasive methods of prenatal diagnosis. The initial objective was to assess the utility of fetal cells in the peripheral blood of pregnant women to diagnose or screen for fetal chromosome abnormalities.MethodsResults of fluorescence in situ hybridization (FISH) analysis on interphase nuclei of fetal cells recovered from maternal blood were compared to metaphase karyotypes of fetal cells obtained by amniocentesis or chorionic villus sampling (CVS). After the first 5 years of the study we performed a planned analysis of the data. We report here the data from 2744 fully processed pre‐procedural blood samples; 1292 samples were from women carrying singleton male fetuses.ResultsTarget cell recovery and fetal cell detection were better using magnetic‐based separation systems (MACS) than with flow‐sorting (FACS). Blinded FISH assessment of samples from women carrying singleton male fetuses found at least one cell with an X and Y signal in 41.4% of cases (95% CI: 37.4%, 45.5%). The false‐positive rate of gender detection was 11.1% (95% CI: 6.1,16.1%). This was higher than expected due to the use of indirectly labeled FISH probes in one center. The detection rate of finding at least one aneuploid cell in cases of fetal aneuploidy was 74.4% (95% CI: 76.0%, 99.0%), with a false‐positive rate estimated to be between 0.6% and 4.1%.ConclusionsThe sensitivity of aneuploidy detection using fetal cell analysis from maternal blood is comparable to single marker prenatal serum screening, but technological advances are needed before fetal cell analysis has clinical application as part of a multiple marker method for non‐invasive prenatal screening. The limitations of the present study, i.e. multiple processing protocols, are being addressed in the ongoing study. Copyright © 2002 John Wiley & Sons, Ltd.
Prenatally detected trisomy 7 mosaicism in a dysmorphic child
Authors: Kivirikko Sirpa , Salonen Riitta , Salo Armi , von Koskull Harriet 
Published: September 2002

AbstractTrisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short leftpalpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low‐set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism. Copyright © 2002 John Wiley & Sons, Ltd.
Mid‐trimester triple test levels in early and late onset severe pre‐eclampsia
Authors: Shenhav Simon , Gemer Ofer , Sassoon Essie , Volodarsky Michael , Peled Ronit , Segal Shmuel 
Published: September 2002

AbstractObjectiveTo study whether the degree of elevation of mid‐trimester triple test markers differs in patients with early versus late onset severe pre‐eclampsia.MethodsA retrospective study of the medical records of 102 patients with severe pre‐eclampsia for whom mid‐trimester triple test result data were available was made. None of these patients had fetuses with abnormal karyotype nor delivered infants with malformations. Pre‐eclampsia was defined as early onset when it presented before 32 weeks' gestation. The levels of mid‐trimester maternal serum alpha‐fetoprotein (MSAFP), human chorionic gonadotrophin (hCG) and unconjugated oestriol (MSuE3) in patients with early and late onset severe pre‐eclampsia were compared.ResultsTwenty‐five patients had early onset and 77 patients had late onset severe pre‐eclampsia. The two groups did not differ significantly with regard to age, weight, parity and severity of pre‐eclampsia. The mean MSAFP in patients with early onset was significantly higher than in patients with late onset severe pre‐eclampsia (1.46 MoM, SE 0.12 versus 1.16 MoM, SE 0.05; p=0.01). The mean hCG in the early onset group was also significantly higher than in the late onset group (1.71 MoM, SE 0.18 versus 1.21 MoM, SE 0.07; p=0.03). Mean MSuE3 levels in patients with early onset were significantly lower than in patients with late onset severe pre‐eclampsia (0.83 MoM, SE 0.05 versus 1.02 MoM, SE 0.03; p=0.04).ConclusionsHigher MSAFP and hCG, and lower MSuE3, may be more significant markers of early rather than late onset severe pre‐eclampsia. Copyright © 2002 John Wiley & Sons, Ltd.
Prenatal diagnosis of extrahepatic biliary duct atresia
Authors: Ben‐Ami Moshe , Perlitz Yuri , Shalev Stavit , Shajrawi Ibrahim , Muller Francoise 
Published: September 2002

AbstractA rare case of extrahepatic biliary atresia was diagnosed by a combination of prenatal ultrasound and measurements of fetal digestive enzymes in amniotic fluid. Ultrasound at 15 and 18 weeks' gestation failed to detect the gall bladder, and amniotic fluid digestive enzyme values were below the fifth percentile. The patient decided to terminate the pregnancy. Post‐abortal pathological examination confirmed the diagnosis. Copyright © 2002 John Wiley & Sons, Ltd.
Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome
Authors: Soulier Marie , Sigaudy Sabine , Chau Cécile , Philip Nicole 
Published: September 2002

AbstractStickler syndrome or hereditary progressive arthro‐ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre–Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogenous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth. Copyright © 2002 John Wiley & Sons, Ltd.
Psychological impact of the detection of soft markers on routine ultrasound scanning: a pilot study investigating the modifying role of information
Authors: Watson Melanie S. , Hall Sue , Langford Kate , Marteau Theresa M. 
Published: September 2002

AbstractObjectivesTo determine the impact on maternal anxiety of detecting a soft marker, and the association between anxiety and the information given during the scan.MethodsRoutine 20‐week fetal anomaly scans were audiotaped in the obstetric ultrasound unit of a London teaching hospital, across a four month study period. The study sample comprised 28 pregnant women: 14 in whom a soft marker was detected and a comparison group of 14 women in whom no marker was identified. Telephone interviews were conducted within one week of the scan, at 30 weeks' gestation, and one month after the birth of their children. The main outcome was anxiety, assessed using a standardized scale. Information provided during the scan was coded from transcripts.ResultsIn the week following the scan, women with soft markers had clinically significant levels of anxiety. At 30 weeks' gestation and one month post‐partum their levels were within the normal range. Women who were told during their scan that their baby would probably be all right, compared with women not told this, were significantly less anxious and worried about their baby.ConclusionsResults from this small longitudinal study suggest that the detection of soft markers on routine prenatal ultrasound causes considerable short‐term anxiety for women and that providing reassurance during the scan may prevent some of this anxiety. Copyright © 2002 John Wiley & Sons, Ltd.
Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa)
Authors: Alkuraya Fowzan S. , Kilani Ramzi A. 
Published: September 2002

AbstractHemoglobinopathies are common inherited disorders in Saudi Arabia. Prenatal diagnosis for such diseases is specific and sensitive but not yet implemented in Saudi Arabia. Saudis are Muslims with a very high rate of consanguinity and inherited genetic disorders. To examine the attitude of Saudi families affected with hemoglobinopathies towards prenatal diagnosis and abortion, and to evaluate the effect of education on religious ruling on such attitudes, 32 families were interviewed using a pre‐structured questionnaire. The majority accepted prenatal diagnosis (81.3%). The attitude towards abortion was greatly affected by religious values. Education about religious ruling significantly affected parents' attitude towards accepting abortion and prenatal diagnosis. No other factors were found to influence the outcome. Although the majority of families received some kind of formal genetic counseling [23/32 (71.9%)], none of them was informed about the possibility of prenatal or preimplantation diagnosis prior to the interview. Therefore for prevention of genetic disorders, the emphasis in countries with a vast majority of Muslims such as Saudi Arabia has probably to be placed on public awareness about genetic risks, the risk of consanguinity, availability of services, and so on, while at the same time taking into consideration the religious beliefs and education of the target population Copyright © 2001 John Wiley & Sons, Ltd.
Derivated fetal haemoglobin as a marker for red cell age in the human fetus reflecting stimulated or impaired red blood cell production
Authors: Huisman Margriet , Egberts Johannes , van Loon Jenny 
Published: September 2002

AbstractWe have determined whether derivated fetal haemoglobin (dHbF, consisting of glycated and acetylated HbF) can be used as a cell age marker for fetal red blood cells (RBCs). Cord blood was obtained between 19 and 39 weeks of gestation from 28 alloimmunised anaemic fetuses (23 RhD+ and 5 Kell) and from 20 non‐anaemic fetuses and newborns (controls). Density gradient centrifugation was applied to 36 samples (20 RhD+, 15 controls and 1 Kell) to obtain fractions of increasing cell age. Blood samples were used for measurements of mean cellular volume (MCV), mean cell haemoglobin (MCH), mean corpuscular haemoglobin concentration (MCHC), pyruvate kinase activity (PK) and derivated fetal haemoglobin (dHbF) by cation‐exchange HPLC. Reticulocytes were counted only in the whole blood samples. In all density gradient separated RBC fractions, the values for MCV, MCH and PK activity decreased and those of MCHC and dHbF increased with increasing density (equivalent to increasing cell age). The mean density was lower for RBCs of the anaemic RHD group (1.072±0.007 g/ml) than for the non‐anaemic controls (1.077±0.005 g/ml) (p<0.05) The RBC density of the Kell sensitised fetus did not differ from those of the controls. In the control group, the values of the cell age markers in whole blood changed significantly with the gestational age, showing an increase of mean age of the erythrocyte population. The best linear relationship was found for dHbF (y=6.28+0.17*weeks; r=0.84; p<0.001). In the anaemic RhD+ fetuses, the RBC age markers did not change with gestational age; the dHbF percentages were lower, and the MCV, MCH, PK values and the reticulocyte counts were higher than in the controls (0.05<p<0.001). The dHbF values of the Kell sensitised fetuses were above (p<0.01) and the reticulocyte counts were below normal (p<0.05) for gestational age. For the anaemic fetuses, a significant number of the dHbF values (86%) and of the reticulocyte counts (78%) differed from the values of the controls (p<0.01). The dHbF percentages in RhD+ fetuses showed the best correlation with the Hb deficit, which is a measure for anaemia (r=−0.81, p<0.0001). We conclude that the percentage derivated HbF may indicate whether the RBC production is normal for gestational age. It may in that sense reflect stimulated or impaired erythropoiesis in alloimmunised haemolytic anaemia. Copyright © 2001 John Wiley & Sons, Ltd.
A rapid and quantitative mass spectrometry method for determining the concentration of acylcarnitines and aminoacids in amniotic fluid
Authors: Braida Laura , Crovella Sergio , Boniotto Michele , Luchesi Ariella , de Vonderweid Umberto , Casetta Bruno , Amoroso Antonio 
Published: September 2002

AbstractWe describe a quantitative, rapid, sensitive and reproducible tandem mass spectrometry (MSMS) method for the one‐step detection of aminoacid (AAs) and acylcarnitine (ACs) concentrations in amniotic fluid. This technology is quicker and more sensitive than other methods used to date since it is possible to determine very low AA and AC concentrations in samples simultaneously in a single run. The high degree of automation allows a large number of pregnancies to be screened for metabolic defects in a very short time. Copyright © 2001 John Wiley & Sons, Ltd.