bluuebunny/crossref_metadata_2025_split huggingface dataset:
A simple and reliable method of chromosome banding for prenatal cytogenetics using a bromodeoxyuridine pulse
Authors: Eichenbaum S. Z. , Krumins E. J. 
Published: March 2007

AbstractAn extremely simple, fully defined and reliable technique for banding chromosomes in situ is described. The method uses a pulse of bromodeoxyuridine to produce replication pattern banding complete with G‐ and C‐type banding in the same karyotype. This enables immediate resolution of problems otherwise requiring extra subculturing and the application of conventional banding techniques. The value of routine chromosome banding in prenatal cytogenetics using such an economical technique is discussed.
Prenatal diagnosis of conjoined twins
Authors: Chatterjee Molly S. , Weiss Robert R. , Verma Uma L. , Tejani Nergesh A. , Macri J. 
Published: March 2007

AbstractA case of conjoined twins with open spina bifida prenatally diagnosed at the twenty‐third week of gestation is presented. The early detection of this rare and unusual malformation was initiated by the observation of markedly elevated maternal serum alphafetoprotein values. Ultrasound evidence of a misshaped cephalic pole and the appearance of one fetal body on real‐time ultrasound was strongly suggestive. Elective midtrimester termination confirmed the prenatal diagnosis and was followed by a benign postpartum course.
False elevation of amniotic fluid enzymes of relevance for prenatal diagnosis: Creatine kinase measurement in relation to duchenne muscular dystrophy
Authors: Edwards R. J. , Rodeck C. H. , Watts D. C. 
Published: March 2007

AbstractThe creatine kinase activity of amniotic fluid was measured in samples collected at fetoscopy. In our first study, the control sample range was 0‐25 IU/1, although four samples had activities of 35–85 IU/1. Elevated values did not correlate with the activities in the fetal or maternal circulations. Electrophoresis revealed the presence of the BB isozyme of creatine kinase rather than just the MM form as expected. This suggested that the source of the elevated enzyme activity was from the myometrium, damaged by insertion of the trocar and cannula.In a further series the first 2 ml of amniotic fluid withdrawn yielded a much higher creatine kinase activity than a second aliquot. A control series of such second samples (first 2 ml discarded) gave an activity range of 0–7 IU/1 with no spuriously high values. This compares favourably with a series from single samplings taken by amniocentesis. Normal creatine kinase activities were found in the amniotic fluids from 20 pregnancies at risk for Duchenne muscular dystrophy.We conclude that for accurate measurement of amniotic fluid enzyme activity the first portion withdrawn should be discarded. Amniotic fluid creatine kinase activity is of no value for the prenatal diagnosis of Duchenne muscular dystrophy.
Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies
Authors: Kleijer W. J. , Blom W. , Huijmans J. G. M. , Mooyman M. C. T. , Berger R. , Niermeijer M. F. 
Published: March 2007

AbstractIn three pregnancies at risk for citrullinemia affected fetuses were predicted both by strongly increased levels of citrulline in the amniotic fluid and by the reduced incorporation of 14C‐citrulline into TCA‐precipitable material in cultured amniotic fluid cells. The prenatal diagnoses of affected fetuses were confirmed after termination of the pregnancies by direct and indirect assays of argininosuccinate synthetase in the fetal livers and fibroblasts respectively.Measurement of the citrulline concentration in amniotic fluid appears to be a valuable adjunct in the prenatal diagnosis of citrullinemia.
Amniotic fluid pregnancy‐specific β1‐glycoprotein (SP1) in fetal developmental disorders
Authors: Heikinheimo Markku , Jalanko Hannu , Leisti Jaakko , Kolho Kaija‐Leena , Salonen Riitta , Von Koskull Harriet , Aula Pertti 
Published: March 2007

AbstractConcentration of pregnancy‐specific β1‐glycoprotein (SP1) was studied in second and third trimester amniotic fluid from pregnancies with various fetal developmental disorders. The material consisted of 26 cases with chromosomal disorders and 19 cases with nonchromosomal fetal malformations. The SP1 concentration was elevated in two cases of Meckel's syndrome (mean + 2.7–4.0 S.D.) as well as in one case of fetal triploidy (mean + 22 S.D.), while it was normal in all other 14 different fetal disorders.
Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy
Authors: Bui The‐Hung , Marsk Lars , Eklöf Ole , Theorell Klas 
Published: March 2007

AbstractChondroectodermal dysplasia (Ellis‐van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis‐van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non‐invasive prenatal diagnosis of the syndrome is discussed.
The effect of oxygen tension on colony formation and cell proliferation of amniotic fluid cellsin vitro
Authors: Held Karsten R. , Sönnichsen Sönke 
Published: March 2007

AbstractThe effects of reduced oxygen concentrations in the gas phase over the culture medium on colony formation and cell proliferation were investigated in high and low cell density primary and secondary cultures of amniotic fluid cells. Using two standard culture methods (25 cm2 plastic flasks and Leighton type tubes) a significantly reduced culture time was observed at high cell density for mass cultures by incubation within a low oxygen tension gas phase (2.5 per cent to 7.5 per cent O2) instead of conventional air (18 per cent O2). At low cell density colony formation was significantly enhanced in cultures grown at reduced oxygen tension. Using gas permeable membranes as support, lowering the oxygen tension from 7.5 per cent to 2.5 per cent yielded an increase in plating efficiency of cells from approximately 5 per cent to 25 per cent, whereas plating efficiency was less than 2 per cent for cells grown at ambient 18 per cent O2.It is suggested that low oxygen tension in the gas phase is an effective means of enhancing clonal growth in amniotic fluid cell cultures, thereby reducing both culture time and risk of culture failure.
Prenatal diagnosis of hunter syndrome
Authors: Archer I. M. , Kingston H. M. , Harper P. S. 
Published: March 2007

AbstractSixteen pregnancies at risk for Hunter syndrome have been monitored by amniocentesis. Iduronate 2‐sulphate sulphatase levels were measured in amniotic fluid, cultured amniotic fluid cells and cord blood. Thirteen of the pregnancies resulted in normal livebirths, two are continuing and one affected pregnancy was terminated. Reduced enzyme levels were observed in either amniotic fluid, cells or cord blood for four female fetuses. Such fetuses are likely to be carriers expressing reduced enzyme levels. The affected male fetus had reduced enzyme activity in amniotic fluid; insufficient cells were cultured for enzyme estimation, however no enzyme activity was detected in fetal liver after termination. Eight cord blood enzyme estimations have been performed, five confirming normal male infants.
Improved direct molecular diagnosis and rapid fetal sexing
Authors: Hoar David I. , Haslam David B. , Starozik Deborah M. 
Published: March 2007

AbstractAdaptations of the techniques of modern molecular biology to prenatal diagnosis has opened new avenues for the detection of genetic diseases. We have taken advantage of the rapid adhesion of colony forming cells in cultured amniotic fluid samples to develop an improved method for molecular diagnosis. By employing the cell adherence regime sickle cell diagnosis using Mst II can be undertaken directly. In addition, hybridization with a cloned repetitive sequence that is of Y origin and has limited autosomal homology permits rapid fetal sexing in 3 to 4 days without compromising conventional cytogenetic or biochemical analysis. This combination of techniques provides a useful adjunct to convential prenatal genetic diagnosis in the second trimester.
Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid
Authors: Morin Pierre R. , Potier Michel , Dallaire Louis , Melançon Serge B. 
Published: March 2007

AbstractWe report relatively high trehalase activity in the amniotic fluid of two fetuses affected with the congenital nephrotic syndrome of the Finnish type. The results suggest that prenatal detection of this condition can be done on this basis in conjunction with the α‐fetoprotein and acetylcholinesterase tests in amniotic fluid.
Creatine kinase estimation in pure fetal blood samples for the prenatal diagnosis of duchenne muscular dystrophy
Authors: Edwards R. J. , Watts D. C. , Watts R. L. , Rodeck C. H. 
Published: March 2007

AbstractThis paper compares the results of a survey of plasma creatine kinase (CK) activity measured in fetuses at‐risk for Duchenne muscular dystrophy (DMD) with a reliable control series. Only pure fetal blood samples obtained by fetoscopy at between 17–24 weeks gestational age were used. Of the at‐risk group 19 male pregnancies, mostly at low risk for DMD, proceeded to term with a normal outcome; there was no significant difference between their fetal plasma CK activities and the control group. Another 21 male pregnancies were terminated. This group included the highest risk mothers and hence was expected to contain a significant proportion of affected fetuses. The fetal plasma CK activity range was overlapping but significantly higher than the control group. No grossly elevated CK value was obtained. We conclude that, on average, DMD fetuses at this gestational age have higher plasma CK activity than controls. The problems of applying this finding to the prenatal diagnosis of DMD are discussed.
S‐100 protein in amniotic fluid of anencephalic fetuses
Authors: Sindic C. J. M. , Freund M. , Van Regemorter N. , Verellen‐Dumoulin Ch. , Masson P. L. 
Published: March 2007

AbstractS‐100 protein, which is found essentially in the astrocytes of the nervous system, was assayed in amniotic fluids by Particle Counting Immuno Assay. It was present in 19 cases of anencephaly out of 26, in 1 case of open spina bifida out of 5 and in each of the 4 cases of fetal death, whereas it was not detected in the 48 control amniotic fluids collected between the 16th and the 35th week of gestation. Thirty‐one amniotic fluids from fetuses with other congenital malformations were devoid of detectable S‐100. The presence of S‐100 in amniotic fluid of anencephalic fetuses can presumably be considered as a biological sign of necrosis of the exencephalic brain and seems specific to damage of the central nervous system accompanied by neural tube defect.
Prenatal diagnosis of atypical tay‐sachs disease by chorionic villi sampling
Authors: Besançon A. M. , Belon J. P. , Castelnau L. , Dumez Y. , Poenaru L. 
Published: March 2007

AbstractWe studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes.Two prenatal diagnoses of affected fetuses were made in this family, The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells.Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.
Cystic hygromata in trisomy 18 and 21
Authors: Pearce J. Malcolm , Griffin David , Campbell Stuart 
Published: March 2007

AbstractPrenatal diagnosis of cystic hygromata by means of ultrasound examination is possible and highly accurate. Although this is usually associated with Turner's syndrome especially if there is co‐existent hydrops fetalis we report three cases in which cystic hygromata were associated with trisomies; two cases of trisomy 21 and one of trisomy 18.
Prenatal diagnosis of recurrence of cystic hygroma with normal chromosomes
Authors: Dallapiccola Bruno , Zelante Leopoldo , Perla Gianni , Villani Giuseppe 
Published: March 2007

AbstractCyst‐like masses in the neck and back region, simulating an encephalocele, were detected by midtrimester ultrasound examinations in two sib fetuses. After termination, the fetuses were found to have large cystic hygromas.The present observation strongly suggests the existence of an autosomal recessive type of cystic hygroma.
Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes
Authors: Pfeiffer R. A. , Ulmer R. , Kniewald A. , Wagner‐Thiessen E. 
Published: March 2007

AbstractIn repeat amniotic fluid cultures mosaicism due to trisomy 9 was noted. Autopsy of the aborted female fetus showed a sinus urogenitalis and gonadal dysgenesis with absence of germ cells only. Fetal lymphocytes and skin fibroblasts had a normal karyotype but trisomy 9 was found in cells grown from placenta. It is likely that trisomic cells were limited to fetal membranes.
Prenatal detection of rubella‐specific IgM in fetal sera
Authors: Morgan‐Capner P. , Rodeck C. H. , Nicolaides K. H. , Cradock‐Watson J. E. 
Published: March 2007

AbstractSerum specimens were obtained by fetoscopy at 19–25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubellaspecific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Specific IgM was detected in the other three fetuses. In one case the level was low (1 unit) and this pregnancy went to term resulting in a neonate with clinical and laboratory evidence of congenital rubella infection. The remaining two fetuses had 2.8 and 2.4 units of specific IgM and the pregnancies were terminated. Blood obtained from these two fetuses after abortion showed levels of 5.4 and 2.9 units respectively. No specific IgM was detected in sera from eleven other fetuses aborted because of maternal rubella but five of these cases were terminated before 19 weeks and in five the interval between rash and abortion was three weeks or less.The results show that the human fetus can produce detectable specific IgM antibody by 19–20 weeks' gestation after exposure to rubella sevella several weeks earlier. However, a larger study is required to define the reliablity of fetoscopic blood sampling for the diagnosis of intrauterine infection.
Early prenatal diagnosis of congenital hypophosphatasia: Case report
Authors: Wladimiroff J. W. , Niermeijer M. F. , Van Der Harten J. J. , Stewart P. A. , Versteegh F. G. A. , Blom W. , Huijmans J. G. M. 
Published: March 2007

AbstractCongenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period. This report presents the prenatal diagnosis of hypophosphatasia at 16 weeks of gestation. The characteristic ultrasonic findings in this abnormality demonstrate the superiority of ultrasound as compared with radiography.
A comparative study of microvillar enzyme activities in the prenatal diagnosis of cystic fibrosis
Authors: Brock David J. H. 
Published: March 2007

AbstractThe potential of four enzyme‐based analytical systems has been compared in the secondtrimester prenatal diagnosis of cystic fibrosis (CF). Direct activity measurements were made of γ‐glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and the intestinal isoenzyme of alkaline phosphatase (ALP). In the fourth system the proportions of total ALP inhibited by phenylalanine and homoarginine, respectively, were assessed. Each system was applied to amniotic fluid samples from 94 pregnancies with al in 4 risk of CF, divided into retrospective (36) and prospective (58) series.No system gave an absolute separation of affected from unaffected cases. Measurement of APM and intestinal ALP (phenylalanine‐inhibitable ALP) gave a better detection rate for CF (35 of 41 cases, 85 per cent) than did measurement of GGTP (63 per cent) or assessment of ALP proportions (76 per cent). APM had a lower false positive rate (4 per cent) than intestinal ALP (8 per cent). For both the latter systems the detection rate of CF rose to 96 per cent (25 of 26), if gestations less than 17 weeks were excluded.
Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis
Authors: Kleijer W. J. , Janse H. C. , Van Diggelen O. P. , Niermeijer M. F. 
Published: March 2007

AbstractIntestinal disaccharidases in amniotic fluid were studied in 41 pregnancies with a recurrence risk for cystic fibrosis (CF). In 11 out of 13 pregnancies with CF fetuses the maltase and sucrase activities were either below the control range (8 cases) or below the 10th percentile of control values (3 cases). Trehalase and lactase were slightly less informative indicators of CF. Of the other 28 pregnancies 3 had low amniotic fluid activities of several intestinal enzymes and were terminated, 12 resulted in the birth of a healthy child and 13 are continuing.The findings in fetal CF suggest an impairment of the defaecation of intestinal contents into the amniotic fluid.Reduced or low amniotic fluid disaccharidase activities were also found in other fetal disorders with demonstrated or presumed intestinal anomalies: e.g. anal atresia (2 cases), anencephaly (3 our of the 7 cases), trisomy 13 (5 cases), trisomy 18 (3 of the 5 cases) and trisomy 21 (19 of the 22 cases).Reduced amniotic fluid disaccharidase activities, although not specific for CF, are highly informative in pregnancies at high risk for CF. Using the 10th percentile of the normal range for amniotic fluid disaccharidase activities as an action line, the sensitivity of CF detection is estimated at 80 to 90 per cent, which could in high risk pregnancies reduce the risk of having another affected child from 1 in 4 to 1 in 20.
Disaccharidase deficiency in amniotic fluid from cases of cystic fibrosis
Authors: Schwartz Marianne , Brandt Niels Jacob 
Published: March 2007

AbstractThe activities of the disaccharidases maltase and sucrase in 4 amniotic fluid from cystic fibrosis (CF) pregnancies have been compared to those of 120 non CF‐pregnancies. Very low levels were found in 3 of the CF‐fluids. The fourth CF‐fluid was normal in all measured microvillar enzyme activities.Elevated levels of disaccharidases in meconium from one of the patients born with CF, supports the idea that these enzymes are trapped in the intestinal cavity by sticky meconium.
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells
Authors: Gatti R. , Borrone C. , Filocamo M. , Pannone N. , Di Natale P. 
Published: March 2007

AbstractWe investigated a case (1.1.) of the severe form of mucopolysaccharidosis I (Hurler syndrome). Prenatal diagnosis was requested by the parents and the next pregnancy was monitored. We report here a special difficulty arising in this diagnosis due to the low enzyme activity in the mother's cells (10–15 per cent of controls) as well as in amniotic cells and would like to stress the need for studying the index case as well as the parents' enzyme activities in order to be prepared for possible difficulties at prenatal analysis.
First trimester diagnosis of lesch‐nyhan syndrome: Applications to other disorders of purine metabolism
Authors: Stout J. Timothy , Jackson Laird G. , Caskey C. Thomas 
Published: March 2007

AbstractThe prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch‐Nyhan syndrome, during the first trimester of an affected pregnancy through the use of chorionic villus sampling is reported. Quantitation of reaction products formed by villus cell extracts from exogenous hypoxanthine‐8‐[14C] or adenine‐8‐[14C] is used in diagnosis. We report the diagnosis of Lesch‐Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis.In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. These heritable disorders also appear amenable to early prenatal diagnosis.
Temporal changes in the utilization of amniocentesis for prenatal diagnosis by women of advanced maternal age, 1976–1983
Authors: Baird P. A. , Sadovnick A. D. , McGillivray B. C. 
Published: March 2007

AbstractUtilization of amniocentesis for prenatal diagnosis because of the indication of advanced maternal age (≥ 35 years at delivery) was examined in the population of B.C. over an 8‐year period (1976–1983). As of 1983, approximately one out of three eligible women (≥ 35 years at delivery) is having the test. In the older group (≥ 38 years at delivery) approximately one out of two eligible women is having the test. The data do not indicate that the proportion of eligible women having amniocentesis has reached a plateau; utilization is continuing to increase. It appears that prenatal diagnosis is an ethically acceptable alternative for a large proportion of the population.
A possible prenatal evaluation of renal function by amino acid analysis on fetal urine
Authors: Lenz Suzan , Lund‐Hansen Torben , Bang Jens , Christensen Ernst 
Published: March 2007

AbstractIntrauterine treatment of 4 fetuses with urethral obstruction was attempted in the third trimester of pregnancy. The fetuses displayed varying sonographic findings including pyelectasis, caliectasis, hydroureter, bladder dilatation, ascites, hydrops, missing kidneys and oligohydramnios. Ultrasonically guided aspiration from the dilated structures was carried out to relieve pressure on the kidney parenchyme and to collect fluid samples for diagnostic purposes. Amino acid concentrations in the fetal urine showed a pattern similar to plasma in 2 fetuses, a pattern almost like urine in 1 fetus and an intermediate pattern in the 4th fetus. Only the fetus with normal amino acid concentrations in the urine survived: the other 3 died in uremia shortly after birth.In 3 cases cells from the aspirated urine were cultured and used for chromosome analysis. The cell cultures grew fast and karyotyping was possible within 1 week.In 2 fetuses an intrauterine catheter was inserted to drain the kidney permanently into the amniotic cavity. In the first case the catheter was displaced to the fetal abdomen after some days of successful drainage. In the second case the catheter tore the placenta, and the child had to be delivered immediately.
The cerebro‐hepato‐renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens
Authors: Schutgens R. B. H. , Schrakamp G. , Wanders R. J. A. , Heymans H. S. A. , Moser H. W. , Moser A. E. , Tagers J. M. , Bosch H. V. D. , Aubourm P. 
Published: March 2007

AbstractPrenatal diagnosis of the cerebro‐hepato‐renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP‐AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy.In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP‐AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired.In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP‐AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP‐AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion.It can be concluded that measurement of the DHAP‐AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.