bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal detection of chromosomal mosaicism
Authors: Najafzadeh Touran M. , Cahill Timothy C. , Dumars Kenneth W. 
Published: March 2007

AbstractA significant problem associated with cytogenetic prenatal diagnosis is distinguishing between true and pseudomosaicism. This becomes a diagnostic dilemma when fetal mosaicism corresponds with a known clinical entity. True mosaicism reportedly occurs with a frequency of 0·2 per cent and pseudomosaicism in 0·7 per cent to 2·7 per cent of cases. In the past 12 months, our laboratory has completed 522 fetal karyotypes. Nine cases were found to demonstrate mosaicism, 4 true mosaics (0·8 per cent) and 6 pseudomosaics (1·1 per cent). One case demonstrated both true and pseudomosaicism. In all cases of true mosaicism, the pregnancy was continued and karyotypes completed at birth. Our results demonstrate a danger of rigid adherence to the criteria for true and pseudomosaicism in the examination of amniotic fluids. It is suggested that the criteria established for true and pseudomosaicism may not be valid when an aberrant cell line is found in a single flask and when that aberrant cell line is compatible with a known clinical entity due to a chromosome anomaly.
Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders
Authors: Kazy Z. , Rozovsky I. S. , Bakharev V. A. 
Published: March 2007

AbstractChorion biopsy was performed in 165 cases at 6–12 weeks of pregnancy, following an ultrasonic or embryo‐fetoscopic chorion frondosum localization. One hundred patients had their biopsies taken immediately before induced abortion. In 39 cases abortion was carried out 5–10 days after biopsy. In 26 pregnant patients biopsy was performed for genetic reasons. Fetal sex was determined in ‘native’ smears from biopsy specimens for cytological investigation, using X‐ and Y‐chromatin assays. Fetal sex diagnosis proved correct in all the cases. In 40 observations, the origin of the biopsy specimen was histologically checked. In 16 biopsy specimens, a number of enzymes were simultaneously assayed: β‐D‐ghcosidase, β‐D‐galacto‐sidase, β‐D‐hexosaminidase, β‐D‐glucuronidase, α‐L‐fucosidase, β‐D‐mannosidase, sphingo‐myelinase and arylsulphatase A. The levels of the above enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16–18 weeks of pregnancy. The amniotic sac remained intact in all cases of chorion biopsy. If the pregnancy was maintained after the biopsy, no spontaneous abortions were recorded, and pregnancies resulted in the timely delivery of full‐term healthy infants. Therefore, the method described is a valuable means of diagnosing inherited disorders, with promising applications in prenatal medicine.
Prenatal diagnosis of trisomy 18 mosaicism
Authors: Grass Frank S. , Hisley John C. , Parke James C. , Bunn David 
Published: March 2007

AbstractTrisorny 18 mosaicism was found in multiple primary cultures of amniotic fluid cells and subsequently confirmed by chromosome analysis of several tissues derived from the aborted fetus. The overall frequency of the minority cell line was 25 per cent in the amniotic fluid cultures and 28 per cent in the fetal tissues although much intertissue variations were noted.
Cultivated cells from mid‐trimester amniotic fluids. IV. Cell type identification via one and two‐dimensional electrophoresis of clonal whole cell homogenates
Authors: Johnston Patricia , Salk Darrell , Martin George M. , Hoehn Holger 
Published: March 2007

AbstractClones of cultivated amniotic fluid cells that have distinct morphologic and growth characteristics (F, AF and E‐type) were examined by one‐dimensional SDS polyacrylamide gel electrophoresis (SDS‐PAGE) and by two‐dimensional electrophoresis employing isoelectric focusing and SDS‐PAGE (IEF‐PAGE). No qualitative differences in band pattern were observed in SDS‐PAGE between the various amniotic fluid cell types, but consistent quantitative differences in the ratios of four bands of presumed filamentous proteins provided good distinction between amniotic fluid cells and postnatal skin fibroblast‐like cells. By adding separation on the basis of electrical charge to that of molecular size (IEF‐PAGE), we observed reproducible qualitative differences in the protein spot patterns between F and both AF and E‐type amniotic fluid cells. At least eight discrete proteins appear not to be synthesized by prenatal F‐type cells in comparison with their isogenic AF and E counterparts under identical culture conditions. The two‐dimensional electrophoretic patterns thus confirm that F and AF amniotic cells, in spite of their morphologic and growth kinetic similarities, are developmentally distinct cell types that retain their differentiated states in culture.
Influence of extracellular matrix on the proliferation of human amniotic fluid cells in vitro
Authors: Crickard Kent , Golbus Mitchell S. 
Published: March 2007

AbstractFactors which influence the proliferation of human amniotic fluid cells in vitro have potential importance in reducing the time for prenatal diagnosis. Fibroblast growth factor (FGF) has been shown to be mitogenic for human amniotic fluid cells. The observation that cells which respond to FGF in vitro produce their own extracellular matrix (ECM), led to the use of an ECM as a substrate to assess proliferation. Pooled amniotic fluid cells maintained on an ECM prepared from bovine corneal endothelial cells demonstrated a significant increase in proliferation when compared with cells maintained on plastic substrate in the presence or absence of FGF. If FGF was added to cultures of amniotic fluid cells maintained on ECM, further increases in proliferation were noted compared with cells maintained on ECM in the absence of FGF. These results indicate that the substrate upon which amniotic fluid cells are maintained can have a profound influence on their proliferation.
The influence of obstetricians on the utilization of amniocentesis
Authors: Bernhardt Barbara A. , Bannerman Robin M. 
Published: March 2007

AbstractA study of 173 Western New York State obstetricians was undertaken to study referral patterns for second‐trimester amniocentesis in 1974–1978. Referral patterns were analysed in relation to obstetrician age, religion, board certification, hospital affiliation and practice location. Forty‐seven per cent of the obstetricians had never referred a patient for amniocentesis. Those referring were overall younger than those not referring and were significantly more often board certified. Obstetrician religion was significantly related to referral with fewer Catholic obstetricians referring. Hospital affiliation (teaching versus non‐teaching) and obstetrician practice location (urban versus rural) were not important factors after controlling for religion and board certification. Obstetrician factors account for a small but important part of the variability in referral, and other factors, such as cost and access to laboratory and obstetric care need further investigation.
The prenatal diagnosis of the 48,xxyy syndrome
Authors: Bibbins Paul E. , Anderson Robert L. , Rary Jack M. , Jones Howard W. 
Published: March 2007

AbstractA 48,XXYY fetus was diagnosed prenatally in a 34‐year old female who was seen at 18‐5 weeks of pregnancy for genetic counselling and amniocentesis for advanced maternal age. The pregnancy was terminated, and skin and peripheral blood samples were obtained at the time of delivery. These samples also exhibited the 48,XXYY chromosomal complement.
Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycans
Authors: Mossman Jean , Patrick A. D. 
Published: March 2007

AbstractAmniotic fluid from 72 pregnancies at risk for mucopolysaccharidosis have been analysed for glycosaminoglycans (GAG) by means of two‐dimensional electrophoresis. Definite results were obtained in all cases and required only 3 days to report. Of the 66 cases for which GAG analysis was accompanied by enzyme assays on cultured amniotic fluid cells, there was agreement of results in 65. In the one case of disagreement the result of GAG analysis proved to be correct. Fourteen pregnancies were predicted to be affected and the predictions were confirmed by studies on fetal tissues and/or cultured cells, or in one case the birth of an affected infant. Of the 58 pregnancies predicted to be unaffected, 48 have so far gone to term and produced healthy infants. There have been no false negative predictions. The analytical method is simple, rapid, and, in this study, has been found completely reliable for prenatal diagnosis.
45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones
Authors: Hecht Frederick , Hecht Barbara Kaiser 
Published: March 2007

AbstractAmniocyte clones from a mid‐trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro‐genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.
Identification of acetylcholinesterase and cholinesterase in amniotic fluid by immune absorption technique
Authors: Nørgaard‐Pedersen Bent , Jensen Søren , Wandrup Jesper 
Published: March 2007

AbstractA method for immunological detection of acetylcholinesterase (AChE) and cholinesterase (ChE) in amniotic fluid is described. By addition of a small amount of antihuman‐erythrocyte membrane antibody or anti‐pseudocholinesterase antibody to the sample before electrophoresis the two esterase bands on polyacrylamide gel (PAG) can be absorbed away. Similar staining results can also be obtained by specific inhibition of the two esterases with either BW 284C51 (AChE inhibitor) or Lysivane (ChE inhibitor). In cases with a faint AChE band and in cases with blood contamination the immune absorption technique makes interpretation easier.Nearly identical staining results have been obtained by the immune absorption technique and the inhibition technique in the following samples with an AChE band: 34 samples from pregnancies with severe fetal malformation or intrauterine death (2 cases), 4 fetal serum samples, 4 samples of cerebrospinal fluid, 4 samples of fetal erythrolysate and 4 samples of adult erythrolysate. It can be concluded that an antibody prepared against erythrocyte AChE cross‐reacts with AChE in cerebrospinal fluid, and that this antibody can be used for demonstration of AChE in amniotic fluid.
Aseptically collected calf serum as an effective alternative to fetal calf serum in the culture of amniotic fluid cells
Authors: Heaton D. E. , Snape B. M. , Fennell S. J. , Marsden H. B. 
Published: March 2007

AbstractThe growth‐promoting activities of three different bovine sera have been compared in primary and secondary amniotic fluid cell cultures. In secondary amniotic fluid cell micro‐ cultures, aseptically collected calf serum (CS) was slightly, though not significantly more effective than fetal calf serum (FCS) in promoting DNA synthesis, while newborn calf serum (NCS) was significantly less effective than either CS or FCS. All three sera were optimally effective at concentrations of 10 per cent (v/v). Significant variation in quality occurred within four batches of each of CS and FCS, but not within four batches of NCS.A selected batch of CS was significantly more effective in promoting the growth of primary amniotic fluid cell cultures than were a number of batches of FCS then in routine laboratory use.It is suggested that CS may serve as an effective and economical alternative to FCS in the culture of amniotic fluid cells, thereby expanding the scope of serum batch testing. A possible explanation for the varying growth‐promoting activities of different sera is discussed.
Prevention of neural tube defects in curly‐tail mice by maternal administration of vitamin A
Authors: Seller Mary J. , Perkins Kathleen I. 
Published: March 2007

AbstractVarious doses of vitamin A were administered on day 9 of pregnancy to the pregnant curly‐tail mouse, a mutant, 60 per cent of which have neural tube defects (NTD). There was a reduction in the incidence of NTD in the fetuses with all doses used. The effect was maximal with 5 mg/kg; it was also marked, but to a lesser degree, with 10 and 20 mg/kg and minimal with 1 mg/kg. The implications of these findings in the mouse to the prevention of NTD in humans by preconception vitamin supplementation are discussed.
Prenatal diagnosis of hemoglobinopathies in twin pregnancies by double simultaneous fetoscopy
Authors: Antsaklis A. , Papantoniou N. , Loukopoulos D. , Kaskarelis D. 
Published: March 2007

AbstractA new technique for sampling fetal blood in twin pregnancies using two fetoscopes simultaneously is described.Two fetoscopes were inserted, one after the other, into both amniotic cavities and fetal blood samples were obtained from either the chorionic plate vessels or the umbilical cord insertion area.The observation of the bright tip of the second fetoscope behind the septum using the first fetoscope assured the successful entry of the two fetoscopes into the two different amniotic sacs.This technique was performed on 15 out of 17 patients. In all patients the fetuses were at risk of β‐thalassemia major. Sampling was successful in all cases. Double simultaneous fetoscopy seems to be a safe and accurate technique without technical problems or complications.The simultaneous use of two fetoscopes opens new possibilities in intrauterine fetal surgery and research.
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia
Authors: Kamoun P. , Parvy Ph. , Dinh D. Pham , Boué J. , Cathelineau L. 
Published: March 2007

AbstractWe report relatively high citrulline concentration in amniotic fluid of a citrullinemic fetus suggesting that prenatal detection of this condition could be done on this basis in conjunction with a direct or an indirect determination of argininosuccinate synthetase activity in amniotic fluid cells.
Dwarfism associated with prenatal ventriculomegaly
Authors: Shih L. Y. , Filkins K. , Suslak L. , Lieber C. , Roth J. A. , Desposito F. 
Published: March 2007

AbstractTwo infants with ventriculomegaly diagnosed by ultrasound during the third trimester of pregnancy were noted to have lethal short‐limbed dwarfing syndromes at birth. In one instance, a clinical suspicion of hydramnios and in the other follow‐up scan for placental localization revealed ventriculomegaly as an unexpected finding. These observations suggest that when ventriculomegaly is detected during prenatal ultrasound evaluation, limb measurements should be included to exclude a dwarfing syndrome as part of the differential diagnosis.
Increased risk of abortion after genetic amniocentesis in twin pregnancies
Authors: Palle Connie , Andersen J. W. , Tabor Ann , Lauritsen J. G. , Bang J. , Philip J. 
Published: March 2007

AbstractForty‐seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent.Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) of 18 women with undetected twin pregnancies and with 3 (3 per cent) of 93 singleton pregnancies, selected as controls as they had amniocentesis performed immediately before and after each of the twin mothers.Two of 9 (22 per cent) twin pregnancies, who had at least two punctures in at least one sac aborted, while 3 of 20 twin pregnancies with one puncture in each sac aborted (15 per cent). One of 18 (6 per cent) twin pregnancies, where only one sac was punctured, because the twin pregnancies were undetected, aborted.Amniocentesis of both sacs in twin pregnancies seems associated with an increased risk of spontaneous abortion. The indications for amniocentesis in twin pregnancies should be critically evaluated.
The safety of fetoscopy: (II). Effect on maternal plasma levels of 13,14‐dihydro‐15‐oxo‐prostaglandinf2α
Authors: Nicolaides K. H. , Koullapis E. N. , Rodeck C. H. 
Published: March 2007

AbstractThe concentration of 13,14‐dihydro‐15‐oxo‐prostaglandin Fza (PGFM) was measured by radioimmunoassay in peripheral plasma in 62 pregnant women undergoing diagnostic fetoscopy.The mean concentration of PGFM before fetoscopy was 410.1 ± 115.8 pmol/1 (mean±S.D.) and the corresponding values at 10 and 20 min following the procedure were 440.9 ± 125.6 and 394.4 ± 103.3 pmol/1 respectively; these differences were not statistically significant. Neither was there a significant change in the pre‐fetoscopy concentration of PGFM in relation to gestational age between the 14th and 23rd week of pregnancy.
Prenatal exclusion of homocystinuria (cystathionine β‐synthase deficiency) by assay of phytohaemagglutinin‐stimulated fetal lymphocytes
Authors: Fensom A. H. , Benson P. F. , Crees M. J. , Ellis Marie , Rodeck C. H. , Vaughan R. W. 
Published: March 2007

AbstractHomocystinuria due to cystathionine β‐synthase deficiency was excluded in a fetus at 23 weeks' gestation by demonstrating activity of the enzyme in fetal lymphocytes after stimulation by phytohaemagglutinin. Fetal blood sampling was carried out because two determinations of enzyme activity on cultured amniotic cells gave low, not fully diagnostic values.
Immediate and unexplained fetal death during mid‐trimester amniocentesis
Authors: Shapiro Lawrence R. , Singer Niecee , Mannor Shlomo M. 
Published: March 2007

AbstractImmediate and unexplained fetal death during mid‐trimester amniocentesis for prenatal diagnosis was found to be an uncommon though real phenomenon. A survey of programmes in the United States detected 5 cases from 7524 at 4 centres. Postmortem examination was not helpful and a neurogenic mechanism is postulated. Awareness of this phenomenon and routine pre‐ and post‐amniocentesis ultrasound monitoring may clarify the actual prevalence and etiology.
Amniotic fluid protease activity and the prenatal detection of cystic fibrosis
Authors: Poenaru L. , Vinet M. C. 
Published: March 2007

AbstractChanges in the protease activity in amniotic fluid has been proposed as a valid method for the prenatal detection of cystic fibrosis (CF).We have studied by quantitative and qualitative procedures, sixty four amniotic fluids: two of them from CF‐affected fetuses.Interpretation of the benzoyl arginine ethyl ester (BAEE)‐staining patterns after isoelectric focusing was often difficult, and repeated experiments gave variable results. In order to improve gel discrimination, we performed amniotic fluid electrofocusing in the presence of detergents: 0.1 per cent Triton X‐100, 0.1 per cent DOC, or 0.1 per cent SDS. In these conditions, the pattern revealed by BAEE was modified, but no differences were observed between CF and normal amniotic fluids.
Fetal chromosome analysis: Screening for chromosome disease?
Authors: Philip John , Tabor Ann , Bang Jens , Madsen Mette 
Published: March 2007

AbstractThe aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocenteses performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group A + B).Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25–34 years of age, in whom all heritable diseases were excluded (group Q.The risk of unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2–4). Women with a known familial translocation and women 40 years or more have a relative risk of 5–7 of having an unbalanced chromosome abnormality compared with women without elevated risk.Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis.It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk.Indications for amniocentesis should therefore be reconsidered. Because it must be considered impractical and ethically wrong to limit amniocentesis to the two mentioned real high risk groups, and illogical to continue the present policy, which is not based on clearcut evidence, the possibility of offering amniocentesis to all who want it, is discussed. Screening for chromosome disease in all pregnancies is not without problems, but may be reasonable in some localities.
Prenantal diagnosis of X‐linked hydrocephaly
Authors: Van Egmond‐Linden A. , Wladimiroff J. W. , Jahoda M. G. J. , Niermeijer M. F. , Sachs E. S. , Stefanko S. 
Published: March 2007

AbstractA case of X‐linked hydrocephaly is presented. Early second trimester evaluation of the size of the lateral cerebral ventricles resulted in onemale fetus cfontinuing further normal developmentand one male fetus being abroted because of progressive hydrocephaly. The affected fetus was characterized by cerebral ventricular dilation without aqueductal stenosis. This case history shows the feasibility of early monitoring of pregnancies at risk of X‐linked hydrocephaly. In some cases, ventricular enlargement rather than aqueductal stenosis may be the primary lesion.
Prenatal exclusion of late infantile metachromatic leucodystrophy in a late‐presenting pregnancy by assay of fetal leucocytes
Authors: Rodeck C. H. , Fensom A. H. , Benson P. F. , Ellis Marie 
Published: March 2007

AbstractMetachromatic leucodystrophy was excluded in a fetus at risk, by assay of fetal blood collected at fetoscopy. Isolated fetal leucocytes were shown to have activities of arylsulphatase A and cerebroside sulphatase in the heterozygous range. The prediction was confirmed in the newborn.
Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography
Authors: Patel Z. M. , Shah H. L. , Madon P. F. , Ambani L. M. 
Published: March 2007

AbstractUltrasonography was performed during the second trimester (17 weeks) in a pregnancy at risk for osteogenesis imperfecta congenita (OI). The scan showed that the femur was short, bent and dense. Radiologic examination of the fetus after interruption of pregnancy showed typical X‐ray changes of OI.
Prenatal ultrasound diagnosis of congenital heart disease associated with intrauterine growth retardation. A report of 2 cases
Authors: Stewart P. A. , Wladimiroff J. W. , Essed C. E. 
Published: March 2007

AbstractTwo fetuses with extreme growth retardation (IUGR) of 31 and 34 weeks gestation were studied using a combination of two dimensional echocardiography (2DE), pulse wave Doppler (PWD) and differential measurement of the instantaneous vessel diameter techniques. The first fetus was diagnosed as having univentricular heart or possible double outlet right ventricle (DORV). Descending aorta blood flow was reduced as was indexing for weight. The second fetus was diagnosed as having univentricular heart with periodic bigeminal and trigeminal rhythm. Descending aorta blood flow was measured on two occasions and was reduced both times. Indexing for weight was within normal limits the first time and showed gross reduction on the second occasion prior to fetal demise. Fetal death occurred in both cases at 34 weeks gestation. Cardiovascular evaluation in fetuses with IUGR is useful as the detection of severe congenital cardiac abnormalities may substantially alter the management of these pregnancies, in particular caesarean section may be avoided when the prognosis for the fetus is considered hopeless.