bluuebunny/crossref_metadata_2025_split huggingface dataset:
Short communications prenatal detection of the autosomal recessive type of polycystic kidney disease by trehalase assay in amniotic fluid
Authors: Morin P. R. , Potier M. , Dallaire L. , Melançon S. B. , Boisvert J. 
Published: March 2007

AbstractWe report relatively high trehalase activity in amniotic fluid of a fetus affected with the autosomal recessive type of polycystic kidney disease (type II), suggesting that prenatal detection of this condition could be done on this basis in conjunction with ultrasonography.
Four years' experience of maternal alpha‐fetoprotein screening and its effect on the pattern of antenatal care
Authors: Ward R. H. T. , Fairweather D. V. I. , Whyley G. A. , Shirley I. M. , Lucas M. 
Published: March 2007

AbstractEstimation of alpha‐fetoprotein (A.F.P.) in maternal serum was used as a screening method for the detection of fetal neural tube defect (N.T.D.) in 7315 women over a four year period. Of these, 5668 pregnancies were tested between 15 and 21 weeks. Action was advised in 129 patients (2·3 per cent). In 74 patients, the only action required was reviewing the notes, including the report of any ultrasound examination, and repeating the blood A.F.P. Detailed ultrasound including scanning the fetal spine was requested in 47 patients and amniocentesis was advised in 19 of these (0·33 per cent). In practice the incidence of amniocentesis was 0·28 per cent as three patients declined our advice. The programme gave detection rates between 15 and 21 weeks of 100 per cent and 75 per cent respectively for anencephaly and open spina bifida. A high fetal mortality was associated with persistently elevated blood A.F.P. levels whether amniocentesis was performed or not.
Maternal environment and the expression of murine neural tube defects
Authors: Seller Mary J. , Beck Susan E. , Adinolfi Matteo , Polani Paul E. 
Published: March 2007

AbstractThe role that genetic and environmental factors play in triggering neural tube defects in the mouse mutant curly‐tail (ct) were investigated by transplanting curly‐tail blastocysts into the uterus of either curly‐tail females or females of an unrelated A strain with a low natural incidence of abnormalities of the neural tube. The percentages of fetuses with neural tube defects were found to be similar in both groups.These results show that in curly‐tail mice exencephaly and spina bifida are manifested independently of the maternal environment.
Trisomy 20 mosaicism in a foetus
Authors: McDermott A. , Gardner A. , Ray B. 
Published: March 2007

AbstractA widespread distrust in the significance of the observation of trisomy 20 mosaicism in amniotic fluid cultures has led to an increasing belief that this particular type of aneuploidy is of extra foetal origin and is clinically incosequential. The report presents an example of amnoitic fluid cell mosaicism for trisomy 20 which was ultimately confirmed in the foetus, and proposes that, in spite of the absence of obvious congenital malformation from the foetus, trisomy 20 mosaicism in amnoitic fluid cultures should be regarded with the same deference as mosaicism for any other autosome of unknown effect.
Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing
Authors: Pollack M. S. , Heagney S. D. , Braun D. , O'neill G. J. 
Published: March 2007

AbstractHLA typing of amniotic fluid cells has been used for the prenatal diagnosis of the HLA linked diseases congenital adrenal hyperplasia (21‐OH‐deficiency (21‐OH‐def) type) and complement C4 deficiency and it has also been used for the prenatal de termination of paternity. There are, however, technical difficulties in this test associated with the weak expression of some B locus antigens on amniotic fluid cells, and theoretical difficulties related to associations between particular HLA antigens and the 21‐OH‐def allele. Since certain HLA‐B locus antigens are found in significantly increased frequencies among patients with 21‐OH‐def, there is a relatively high incidence of HLA‐B homozygosity among the patients and over 40 percent of the parents of these patients share one or more HLA‐B locus antigens. Results of some prenatal HLA typing tests may thus be difficult to interpret, and supplementary tests should be used whenever possible. HLA typing of amniotic cells is, however, the only available procedure for prenatal diagnosis of C4 deficiency and it is the best available procedure for prenatal determination of paternity. A modification of our original procedure allows HLA typing to be performed with increased numbers of HLA typing sera, and sera with optimum reactivity for amniotic fluid cells have now been selected for the definition of most of the more commonly expressed HLA antigens. Although amniotic fluid cells do not express DR antigens, amniotic fluid cells can be typed for the HLA‐linked marker glyoxalase I (GLO) and this may be the informative for prenatal diagnosis in some cases.
Ultrasound demonstration of masses in a 15 week fetus: Hydrops in a fetus with umbilical cord occlusion
Authors: Shenker Lewis , Anderson William , Anderson Caroline 
Published: March 2007

AbstractA fetal abnormality detected at 15 weeks by ultrasound consisted of cystic appearing masses in the neck and back region. The differential diagnosis included gonadal dysgenesis (Turner's syndrome) with cystic hygroma, neural tube defect, e.g. encephalocele or meningomyelocele, and fetal hydrops.Intrauterine fetal demise occurred at 17 weeks. The fetus had marked edema possibly related to umbilical cord occlusion.
Ultrasonic detection of an abnormal mass in a fetus later shown to have trisomy 18
Authors: Heller Richard H. , Adams John E. , Hirschfeld Robert L. , Tapper Alan J. 
Published: March 2007

AbstractUltrasonic examination in a thirty‐eight year old woman about to undergo midtrimester amniocentesis suggested an intra‐abdominal fetal mass confirmed by amniography. The mass was a grossly distended urinary bladder. The patient aborted spontaneously before chromosome analysis demonstrated a 47,XY, + 18 karyotype.
Neural tube defects in trisomy 18
Authors: Nisani Rachel , Chemke Juan , Cohen‐Ankori Hana , Nissim Florens 
Published: March 2007

AbstractCentral nervous system anomalies in trisomy 18 are usually confined to structural abnormalities of brain development. Despite the recognized association of neural tube defects and trisomy 18, primary (true) anencephaly is uncommon in the classical trisomy 18 phenotype. A case of anencephaly with trisomy 18, diagnosed prenatally, is presented with a review of the literature of this association.
Glial and neuronal cells in amniotic fluid of anencephalic pregnancies
Authors: Von Koskull H. , Virtanen I. , Lehto V.‐P. , Vartio T. , Dahl D. , Aula P. 
Published: March 2007

AbstractCultured amniotic fluid cells from four anencephalic pregnancies were characterized in indirect immunofluorescence (IIF) microscopy using specific antibodies against different types of cytoskeletal intermediate filaments. Most of the cells showed a fine fibrillar cytoplasmic fluorescence with antibodies against glial fibrillary acidic protein (GFA), indicating that amniotic fluid cells in anencephalic pregnancies are of glial origin. The GFA‐positive cells were rapidly adhering and proliferating. They remained as the major cell type also in long term cultures, and could easily be recovered from liquid nitrogen without losing their GFA positivity. GFA‐positive cells were pleomorphic in appearance, and occurred in several morphologically different shapes. Amniotic fluid from one of the anencephalic cases contained typical neuronal cells, which in IIF were GFA‐negative but could specifically be stained with anti‐neurofilament antibodies. Most of the GFA‐negative cells in all the cases were fibroblasts, identified by their fluorescence only with antibodies against vimentin. Epithelial cells showing positive keratin‐fluorescence in IIF, were seen only occasionally.
Microculture of fetal blood for prenatal cytogenetic studies from blood‐stained amniotic fluid
Authors: Bricarelli F. Dagna , Arslanian A. , Carbone L. Doria Lamba , Chisci R. , Gessaga M. , Zucchinetti P. 
Published: March 2007

AbstractAn alternative method to the culture of amniotic fluid cells for prenatal diagnosis of chromosome disorders is proposed. Microculture of fetal blood can be used when fetal blood is drawn at amniocentesis through accidental puncture of the placenta. An easy discrimination of fetal red cells, a good response of fetal lymphocytes to PHA and the possibility of identification of the fetal karyotype from the maternal one are the technical bases of this method.This technique offers some undoubted advantages: a reduced need for repeating amniocentesis because of a lack of growth of AF cells due to massive contamination with red cells; a result may be obtained sooner.Thirty‐seven cases out of 1092 amniocenteses were processed in this way (3·4 per cent). In two cases no mitoses were obtained but in the others the diagnosis was confirmed by the results of AF cell culture and/or by the outcome of pregnancy.
Maternal serum alfa‐fetoprotein levels in the pregnancy complicated by hypertension
Authors: Clayton‐Hopkins Judith A. , Olsen Pauline N. , Blake Anne P. 
Published: March 2007

AbstractMaternal serum alpha‐fetoprotein (MSAFP) was determined in patients 33 to 40 weeks pregnant, and the results were analysed with consideration of the presence and quality of hypertensive disease that complicated many of the pregnancies. Patients with incompletely controlled hypertension had significantly higher MSAFP levels than control patients with pregnancies uncomplicated by any risk factor. MSAFP elevation was greatest in pre‐eclampsia (301·6 ± 147·6 kU/L, n = 35) > chronic hypertension with superimposed pre‐eclampsia (240·4±74.7 kU/L, n = 30) > chronic hypertension (204·1± 105·3 kU/L, n=141). Each was significantly increased (P< 0·0001) over control pregnant patients' levels (104·3 ± 38·8, n= 187). At each gestational week from 33 weeks to term, MSAFP of combined hypertensive women was significantly greater than corresponding control levels (P< 0·003 to < 0·000l). The magnitude and time of onset of MSAFP increase may indicate severe fetal distress.
Rh isoimmunization following genetic amniocentesis
Authors: Golbus Mitchell S. , Stephens John D. , Cann Howard M. , Mann John , Hensleigh Paul A. 
Published: March 2007

AbstractA series of 8009 genetic amniocenteses were retrospectively examined to evaluate the relationship of the procedure to Rh isoimmunization. Of the 615 Rh negative women giving birth to Rh positive infants and estimated to be at risk, thirteen (2·1 per cent) were sensitized subsequent to the amniocentesis. Eleven of the sensitizations occurred early in the programs, and a combination of experience and ultrasound performed concurrently with the amniocentesis appear to have reduced the risk of isoimmunization to that of control data from the literature.
Prenatal diagnosis of hereditary tyrosinaemia: Measurement of succinylacetone in amniotic fluid
Authors: Gagné R. , Lescault A. , Grenier A. , Laberge C. , Mélançon S. B. , Dallaire L. 
Published: March 2007

AbstractA method is proposed for prenatal diagnosis in pregnancies at risk of hereditary tryosinaemia. Affected fetuses were detected on the basis of the abnormal presence in the amniotic fluid of succinylacetone, a metabolite previously identified in sera and urines of patients suffering from hereditary tyrosinaemia. Our data show that the forty amniotic control samples had no detectable succinylacetone, while succinylacetone was found in three out of the thirteen cases at risk. Following the parents' decision, these three fetuses were aborted. The ten other mothers who brought their pregnancies to term had normal infants. Enzymatic analysis from two of the aborted fetuses' livers revealed an absence or a low activity of fumarylaceto‐acetate hydrolase (EC 3.7.1.2) compared with control fetal livers of the same age.
Women's experiences with second trimester prenatal diagnosis
Authors: Verjaal Marianne , Leschot Nico J. , Treffers Pieter E. 
Published: March 2007

AbstractBy means of questionnaires, 100 women were asked for their experiences concerning prenatal diagnosis. At four standardized stages of the pregnancy a questionnaire was filled in asking for: expectation, knowledge, attitude towards termination of the pregnancy in case of abnormal findings, reactions to the counselling and the obstetric treatment, interpretation of own risk, experiences since the normal test results were known and ideas to improve the treatment. With regard to the effect of pre‐amniocentesis counselling it is concluded that the counselling had little impact on decision making; the counselling caused an increase of factual knowledge: somewhat more than half of the women who did not give a correct answer before counselling, indicated the right answer some time afterwards. Presumed differences in reaction patterns for a number of characteristics were not affirmed by the study; the reactions during the procedure of prenatal diagnosis seem to be highly individual and difficult to predict. In addition to the reactions of the 100 women described in this study, the responses to the first questionnaire of another 16 patients, declining amniocentesis after counselling, are presented.
Trisomy 20 mosaicism in amniotic fluid cells
Authors: Bösze P. , László J. , Tóth A. 
Published: March 2007

AbstractThe significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/trisomy 20 mosaicism the termination of pregnancy may not be advised, however, the parents should be fully informed.
Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (β‐glucuronidase deficiency)
Authors: Poenaru L. , Castelnau L. , Mossman J. , Boué J. , Dreyfus J. C. 
Published: March 2007

AbstractWe had the opportunity of investigating a case (BK) of a severe form of mucopolysacchari‐ dosis with nearly total deficiency of β‐glucuronidase in serum, leucocytes and fibroblasts.We here report results obtained by prenatal diagnosis of a clinically normal child (BK's sister), and point out the difficulty in interpreting a heterozygous level of β‐glucuronidase activity in cultured amniotic cells.Four successive passages of amniotic cells were tested for β‐glucuronidase and α‐mannosidase activity in at‐risk and control cells. In different passages, enzyme activity was between 8 and 49 per cent of controls but 2 to 18 times higher than fibroblasts from the affected brother (BK).The highest activity was observed in the first passage and the lowest in the third.The electrophoretic separation of GAGS from at‐risk amniotic fluid showed a normal pattern. We discuss the correlation between enzyme levels in different passages of cultured cells and that found in leucocytes and fibroblasts from the propositus and parents.From a practical point of view, we conclude that the first passage gives the most reliable results for prenatal diagnosis.
Maternal alphafetoproteln screening by the polypropylene tube immunoradiometric assay on dried blood
Authors: Dallaire L. , Grenier A. , Ducharme G. , Melancon S. B. , Potier M. , Des Rochers M. 
Published: March 2007

AbstractThe polypropylene tube immunoradiometric assay for alphafetoprotein (AFP) determination was applied to maternal serum along with a radioimmunoassay technique during the second trimester of pregnancy. Blood from pregnant women was collected by finger prick on strips of chromatography paper (Schleicher and Schuell No. 903C) and air dried. A 4·75 mm disc spot was eluted in anti‐AFP coated tubes containing 1·0 ml of assay medium. After one hour the medium was vortexed and the tubes washed and counted on a Concept 4tm (Micro‐ medic Systems, Horsham, PA.19044). The sensitivity of the technique is about 9 μg/l (35 ng/l in the assay) by the Rodbard formula. The concordance between the dried blood and the serum RIA tests in normal pregnancies was over 90 per cent at the 95th and 97th percentiles. This assay on dried blood spotted on chromatography paper was tested on 1003 patients and proved to be an ideal alternative to whole serum screening techniques: it minimizes sample manipulations and can easily be integrated into an existing newborn screening programme.
Amylo‐1,6‐glucosidase activity in cultured cells: A deficiency in type III glycogenosis with prenatal studies
Authors: Besley Guy T. N. , Cohen Patricia T. W. , Faed Michael J. W. , Wolstenholme John 
Published: March 2007

AbstractDeficiency of amylo‐1,6–glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo‐1, 6–glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross‐reacting material was found in the patient's liver.Assay of amylo‐1,6–glucosidase activity in cultured skin fibroblasts from the affected family revealed less than 10 per cent of control value in mutant homozygous cells whereas in cells from the parents, activity was reduced to 40–60 per cent of the control value. Activity in cultured amniotic fluid cells was similar to that of control fibroblasts. In cultured amniotic fluid cells obtained during the mother's subsequent pregnancy, the normal amylo–1,6–glucosidase activity measured, predicted correctly the outcome of this pregnancy prior to the 20th week of gestation.
Prenatal diagnosis of pseudo arylsulphatase a deficiency
Authors: Kihara Hayato , Fluharty Aryan L. , Tsay Katherine K. , Bachman Ronald P. , Stephens John D. , Ng Won G. 
Published: March 2007

AbstractPrenatal diagnosis was performed on a pregnancy at risk for metachromatic leukodystrophy (MLD) in a family with the pseudo arylsulphatase A deficiency trait. Extracts of cultured amniotic fluid cells were deficient in arylsulphatase A indicating that the fetus was either affected with MLD or had the benign pseudodeficiency trait. In the cerebroside sulphate loading test, the at risk cells hydrolysed sulphatide like control cultured amniotic fluid cells implying that the fetus had pseudodeficiency. The pregnancy was carried to term and a male child was delivered. Placenta, urine and fibroblasts had very low activities of arysulphatase A. However, no sulphatide could be detected in urine and growing fibroblasts responded normally in the cerebroside sulphate loading test, suggesting pseudodeficiency. At 29 months, the infant is healthy and shows no stigmata of MLD. The prediction based on the results of the cerebroside sulphate loading test on cultured amniotic fluid cells appeared to be borne out.
Prenatal diagnosis of X‐linked mental retardation with fragile (X) using fetoscopy and fetal blood sampling
Authors: Webb T. , Gosden C. M. , Rodeck C. H. , Hamill M. A. , Eason P. E. 
Published: March 2007

AbstractPure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X‐linked mental retardation with fragile(X) at Xq27–28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chromosome while nine other fetal blood samples from pregnancies at risk for other X‐linked diseases, or haemoglobinopathies did not show fragile sites at Xq27–28, and a blood sample from an abortus showed only 1 fragile site in 95 mitoses. Both pregnancies were terminated, cultures established from fetal tissues, and the diagnosis confirmed in each case. The problems of demonstrating the fragile site in tissues other than fetal blood in these pregnancies (such as amniotic fluid cells or fibroblasts from fetal tissues) are discussed.
Fetoscopy and fetal blood sampling in the management of a twin pregnancy with 45,X/46,XX amniotic fluid cell mosaicism and a suspected fluid sampling error
Authors: Garreit C. , Blunt S. , Daker M. G. , Sharp J. , Rodeck C. H. 
Published: March 2007

AbstractA 37 year‐old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/ 46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy.
Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk
Authors: Kleijer W. J. , Thompson E. J. , Niermeijer M. F. 
Published: March 2007

AbstractIn 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α‐L‐iduronidase deficiency and an increased level of 35S‐sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts.Microassays for α‐L‐iduronidase, using phenyl α‐L‐iduronide and more recently 4–methyl‐umbelliferyl α‐L‐iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis.35S‐sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.
Early prenatal detection of diastrophic dysplasia
Authors: Kaitila Ilkka , Ämmälä Pirkko , Karjalainen Olavi , Liukkonen Sirkka , Rapola Juhani 
Published: March 2007

AbstractDiastrophic dysplasia, an autosomal recessive disorder, results in severe short‐limbed dwarfism, progressive spinal and joint problems, and secondary psychosocial disability. The results of treatments are unsatisfactory.Four pregnant mothers at risk for an affected fetus were studied with an ultrasound scanner at 16 and 19 weeks of gestation. Each mother had a previous child with diastrophic dysplasia. The biparietal distance and the length of the long bones of the extremities were normal in three fetuses, whereas in one fetus there was a 30 per cent shortening of all long bones. The biparietal distance corresponded with the gestational age in all fetuses. In one fetus, diastrophic dysplasia was confirmed by fetoscopy and fetal radiograph at 19 weeks of gestation after the parents had decided to terminate the pregnancy. The skeletal radiograph and autopsy findings of the fetus verified the diagnosis. All other mothers were followed with repeated ultrasound examinations, and they delivered healthy babies.The retrospective follow‐up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. These complications were, however, mild and transient, and they could not be regarded as specific for pregnancies with affected fetuses.
Cystic hygroma simulating an encephalocele
Authors: Nevin Norman C. , Nevin Jean , Thompson William , O'hara M. Denis 
Published: March 2007

AbstractAn ultrasound examination at 17 weeks gestation on a woman with a family history of spina bifida suggested that the fetus had a closed encephalocele. Amniotic fluid alphafetoprotein, rapidly adhering cells and acetylcholinesterase gel electrophoresis were normal. The pregnancy was terminated and the fetus was found to have a large cystic hygroma. It is suggested that in counselling parents of an infant or fetus with a cystic hygroma and with a normal chromosome constitution, ultrasound examination in future pregnancies is advisable, because of the possibility of autosomal recessive inheritance.