bluuebunny/crossref_metadata_2025_split huggingface dataset:
S‐100 protein and neuron‐specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus
Authors: Annerén G. , Esscher T. , Larsson L. , Olsen L. , Påhlman S. 
Published: March 2007

AbstractThe aim of this study was to determine whether there is increased leakage of neuron‐specific enolase (NSE) and S‐100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha‐fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis.Amniotic samples from 25 mid‐pregnancies (15–17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid‐pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid‐pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation.It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S‐100 assay alone proved to be superior for the detection of these cases in mid‐trimester amniotic fluid. The S‐100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.
Intrauterine hypercalcaemia and non‐immune hydrops fetalis— relationship to the Williams syndrome
Authors: Westgren M. , Eastham W. N. , Ghandourah S. , Woodhouse N. 
Published: March 2007

AbstractWe describe a 28‐week‐old fetus with severe non‐immune hydrpps. Intrauterine cord blood sampling revealed hypercalcaemia of 3–4mmol/l (n = 2·6±0·1). Subsequently, a postmortem examination revealed supravalvular aortic and pulmonary artery stenosis together with extensive arterial calcification. The maternal calcium, 25‐hydroxyvitamin D3, 1,25‐dihydroxyvitamin D3, and parathyroid hormone levels were normal at delivery.This is the first time that hypercalcaemia has been diagnosed in vitro. We speculate on the fact that the disorder resulted as a consequence of abnormal vitamin D metabolism in the fetoplacental unit, and that it might be related to the Williams syndrome.
First trimester chorionic villus sampling versus mid‐trimester genetic amniocentesis‐preliminary results of a controlled prospective trial
Authors: Crane James P. , Beaver Heidi A. , Cheung Sau Wai 
Published: March 2007

AbstractThis controlled prospective study assesses the relative risks of first trimester chorionic villus sampling (CVS) versus mid‐trimester gentic amniocentesis (GA). CVS subjects and amnio‐centesis controls were comparable with regard to several confounding variables which might influence the risk of pregnancy loss including maternal age, smoking, alcohol consumption, gestational age at study entry, and history of vaginal bleeding or poor prior reproductive outcome. The most common indication for prenatal diagnosis was advanced maternal age (n = 511). In this subgroup, spontaneous abortion (<24 weeks) occurred in 2·9 per cent of CVS subjects versus 4−3 per cent of amniocentesis controls. The sum of spontaneous and therapeutic abortions (<24 weeks) was identical (5·3 per cent) in both groups. Therefore, intervention in the CVS group (i.e., therapeutic abortion for cytogenetic abnormalities) did not influence the observed risk of pregnancy loss. Overall perinatal mortality rates were also similar in both groups. No significant differences were identified for a number of pregnancy outcome parameters including 5 min Apgar score, birth weight, body length, head circumference, gestational age at delivery, preterm delivery, fetal growth retardation, congenital malformations, and neonatal complications. Preliminary results of this controlled prospective study suggest that chorionic villus sampling carries a low and acceptable risk.
In vitro characteristics of human fetal cells obtained from chorionic villus sampling and amniocentesis
Authors: Chang Hsiao‐Chen , Jones Oliver W. 
Published: March 2007

AbstractIn vitro characteristics of human fetal cells have been investigated after chorionic villus sampling at the first trimester and amniocentesis at the second trimester of pregnancy. Light microscopy revealed heterogeneous morphology of cell types in both the chorionic villus culture and the amniotic fluid cultures. Based on the experiments performed, chorionic villus cells are more sensitive to pronase, trypsin, and versene during subculture and have a higher DNA content per single cell and release more [125I]‐Beta‐human chorionic gonadotropin into culture medium than those found in amniotic fluid cells. The practical applications of this study are discussed.
The oxidation of octanoic acid by cultured amniotic fluid cells: The effect of cell type and passage number
Authors: Allison F. , Barnes I. C. S. , Bennett M. J. 
Published: March 2007

AbstractWe have measured the rate of oxidation of [1−14C]octanoate in cultured amniotic fluid (AF) cells at various passages and in AF cell lines with different clonal morphology. It is possible that both the passage number and the cell type may influence the outcome of prenatal diagnosis of fatty acid oxidation defects using this technique. We found that there was no significant difference between the three major AF cell types (epithelial, large epithelial, and fibroblast) when analysed at identical passage number but there was a significant reduction in octanoate oxidation in all cell types with increasing passage. For reliable prenatal diagnosis, cell lines of similar low passage number should be used.
Problems in prenatal diagnosis of β‐thalassaemia by fetal blood analysis: β‐chain variant comigrating with gamma chains
Authors: Rosatelli C. , Schettini F. , Monni G. , Tuveri T. , Scalas M. T. , Di Tucci A. , Leoni G. B. , Cao A. 
Published: March 2007

AbstractThis report describes a couple at risk for β thalassaemia in which one spouse was heterozygous for classical high Hb A2 β‐thalassaemia while the other had the compound heterozygous state for β+‐thalassaemia and a β‐chain variant. This variant comigrates on carboxymethyl‐cellulose columns (CMC) with γ‐chains, indicating that globin separation on CMC columns could not have been used for fetal diagnosis. The β‐chain variant migrates separately from the other globin chains on HPLC and the respective abnormal haemoglobin can be separated by isoelectrofocusing. Oligonucleotide hybridization showed that both parents were carriers of the β+ IVS‐1, nt 6 mutation. Prenatal diagnosis was successfully accomplished by oligo‐nucleotide analysis on trophoblast DNA. This case indicates that an Antenatal Service should have alternative methods to CMC columns so as to carry out prenatal diagnosis of β‐thalassaemia in uncommon cases.
Maternal cell contamination in chorionic villus samples assessed by direct preparations and three different culture methods
Authors: Roberts E. , Duckett D. P. , Lang G. D. 
Published: March 2007

AbstractPresumptive maternal cell contamination (MCC) was monitored in identified male cases during cytogenetic comparison of direct techniques and three different culture regimes from 140 thoroughly dissected chorionic villus samples. Of the 66 identified male cases, 11(16·7 per cent) showed MCC, the mean number of cells examined per case being 8·2 (direct) and 14·5 (cultures); in the direct preparations only one of a total of 457 cells examined was female, while preparations from cultures revealed MCC in 11 cases. Four of these had MCC in more than one culture regime and four had only a single female cell. The results showed that (1) dependence on the culture system alone would have given a diagnosis based on maternal cells in one (1·5 per cent) male case, thus underlining the danger of this approach (a similar undetected rate of misdiagnosis being expected in the female cases) and (2) MCC was significantly lower in cultures grown in Chang medium as compared with the other two regimes, McCoy's 5A + 15 per cent fetal calf serum and 1 per cent Ultroser G, and McCoy's 5A + 25 per cent fetal calf serum, the latter expressing the highest level of MCC.
Cardiac defects in chromosomally abnormal human embryos of 10–14 weeks' gestation
Authors: Coerdt Wiltrud , Rehder Helga , Gebauer Hans‐Jürgen , Holzgreve Wolfgang , Klink Franz , Miny Peter , Schulze Bernt 
Published: March 2007

AbstractCardiac defects were studied in five chromosomally abnormal embryos of 10–14 weeks' gestation by free‐hand microdissection of hearts measuring 2·5–6 mm in diameter. The type of cardiac malformation alone or in association with other anomalies helped to confirm the chromosome diagnosis established prenatally by chorionic villus sampling or after spontaneous abortion. It was suggestive of a chromosomal disorder in one case in which cytogenetic investigation had failed.
Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling
Authors: Hunter A. G. W. , D'Alton M. , Wey B. , Wang H. S. , Thompson D. W. 
Published: March 2007

AbstractWe present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/ 47.XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo‐mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.
Severe bilateral renal disease: Correlation of antenatal and autopsy findings
Authors: Murphy Jerome L. , Mendoza Stanley A. , Griswold William R. , Reznik Vivian M. 
Published: March 2007

AbstractWe report 20 infants with severe bilateral renal disease examined by prenatal ultrasound and by autopsy. In 17, the prenatal and pathologic diagnoses correlated well. Although the prenatal and autopsy findings differed in the three remaining cases, the autopsy confirmed the presence of severe bilateral renal abnormalities. All 20 pregnancies were complicated by oligohydramnios, which was severe in 60 per cent. Most of these fetuses had malformation of other organ systems. This series supports the utility of prenatal ultrasound examinations, but emphasizes the need for postnatal evaluation of congenital renal disease including pathologic examination of tissue when possible for correct classification and genetic counselling.
Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation
Authors: Hunziker Urs A. , Savoldelli Guido , Boltshauser Eugen , Giedion Andres , Schinzel Albert 
Published: March 2007

AbstractA mother who had given birth to a child with Schwartz–Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz–Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures.
False‐negative amniotic fluid acetylcholinesterase in a case of meningo‐encephalocele
Authors: Boogert A. , Aarnoudse J. G. , de Bruijn H. W. A. , Gouw A. 
Published: March 2007

AbstractWe describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin.
First‐trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes
Authors: Dallapiccola B. , Ferranti G. , Altissimi D. , Colloridi F. , Paesano R. 
Published: March 2007

AbstractA (14;21) homozygous Robertsonian translocation was detected by first‐trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.
The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987
Authors: Vejerslev Lars O. , Mikkelsen Margareta 
Published: March 2007

AbstractData on a total of 11 855 diagnostic chorionic villus samples obtained in the years 1986 and 1987 were compiled from a questionnaire filled in by 36 European cytogenetic centres. Mosaicism was reported in 141 cases. The cytogenetic findings were followed by induced abortion in 24 cases. Spontaneous abortion was observed in nine mosaic pregnancies, a rate not significantly different from that observed for CVS in total. Mosaicism was found in 1.2 per cent of analyses by direct analysis/short‐term culture, in contrast to the 0.6 per cent found after long‐term culture. Evidence for fetal non‐mosaicism was found in 99 of the 141 cases. The finding of mosaicism in first‐trimester CVS should always elicit further analyses, preferably after amniocentesis, to substantiate the suspected fetal chromosome aberration.
Maternal serum alpha‐fetoprotein and fetal triploidy
Authors: Pircon Richard A. , Towers Craig V. , Porto Manuel , Gocke Stephen E. , Garite Thomas J. 
Published: March 2007

AbstractFetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha‐fetoprotein (MSAFP), amniotic fluid alpha‐fetoprotein (AFP), amniotic fluid acetylcholinesterase (ACHE), fetal pathology, and placental pathology in sex second‐trimester pregnancies complicated by fetal triploidy. Four of these patients had MSAFP values greater than 7.5 multiples of the median (MoM). Five of six pregnancies had MSAFP values greater than 2.25 MoM. All five of these patients had a partial mole. Four patients had amniotic fluid AFP values greater than 2.0 MoM. Two fetuses had associated neural tube defects. These were the only patients with positive amniotic fluid ACHE. None of the other patients had fetuses with anomalies that are known to be associated with an elevated MSAFP. The elevated MSAFP appeared to be related to the presence of a partial mole. Two of the five cases with an MSAFP greater than 2.25 MoM did not have sonographic evidence of a significant anomaly. Therefore, karyotyping can be of benefit in evaluating patients with elevated MSAFP.
Harlequin fetus and micromelia
Authors: Charles A. , Moulinasse R. , Versailles L. 
Published: March 2007

AbstractA fetus was born prematurely after a 34‐week pregnancy whose evolution was marked by the ultrasonic finding at 23 weeks of a considerable shortening of the long bones. At birth, the newborn infant bore the appearance of a harlequin fetus. There was no dwarfism, but the micromelia discovered in utero was confirmed both clinically and radiologically. Such global micromelia associated with this kind of pathology has never been described, not to mention witnessed, in utero and may be part of the fetal akinesia sequence phenotype.
Carrier detection and prenatal diagnosis in Norrie disease
Authors: Curtis Diana , Blank C. E. , Parsons M. A. , Hughes Howard N. 
Published: March 2007

AbstractWe report the use of DNA probes to determine carrier status in three young women from a large kindred with Norrie disease. One of the women requested prenatal diagnosis during pregnancy. In this pedigree, Norrie disease was not characterized by a deletion at DXS7.
Autosomal dominant polycystic kidney disease: Prenatal diagnosis by DNA analysis and sonography at 14 weeks
Authors: Ceccherini I. , Lituania M. , Cordone M. S. , Perfumo F. , Gusmano R. , Callea F. , Archidiacono N. , Romeo G. 
Published: March 2007

AbstractA pregnant woman affected with autosomal dominant polycystic kidney disease (ADPKD) had a history of an affected fetus, diagnosed by sonography at 29 weeks of pregnancy. The proband's father was also affected. DNA analysis performed on chorionic villi at 11 weeks during a second pregnancy predicted an affected fetus, and sonographic examination at 14 weeks confirmed the diagnosis.
Missed prenatal diagnosis of fragile‐X syndrome
Authors: Webb T. P. , Bundey S. , McKinley Mark 
Published: March 2007

AbstractAn account is given of a pregnancy in an obligatory carrier of the fragile‐X syndrome, in whom examination of chorionic villus cells and fetal blood cells showed the presence of a male fetus who lacked the fragile‐X chromosome. However, at 3 months of age he had 14 per cent of fragile‐X cells in his blood. Reasons are suggested for this error in diagnosis. The empirical risk for an error of this sort is 3 per cent.
Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism
Authors: Hogdall C. , Siegel‐Bartelt J. , Toi A. , Ritchie S. 
Published: March 2007

AbstractPrenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X‐linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.
Familial marker chromosome due to 3:1 Disjunction of t(9;15) in a grandparent
Authors: Winsor Elizabeth J. T. , van Allen Margot I. 
Published: March 2007

AbstractAn extra small chromosome detected in amniotic fluid was identified as the product of a translocation [46,XX,t(9;15)(p24;q11.2)]. This case is unusual in that individuals with the unbalanced karyotype resulting from a 3:1 disjunction are phenotypically normal.
Prenatal analysis of insulin receptor autophosphorylation in a family with leprechaunism
Authors: Maassen J. A. , Lindhout D. , Reuss A. , Kleijer W. J. 
Published: March 2007

AbstractWe describe a method for the isolation and functional characterization of insulin receptors from chorionic villi and cultured amniotic fluid cells. The functionality of these receptors is assayed by measuring the insulin‐induced stimulation of autophosphorylation of the receptor β‐chain. The method is expected to allow the prenatal diagnosis of those forms of lep‐rechaunism and related diseases which are the result of a decreased stimulation by insulin of receptor autophosphorylation. A pregnancy at risk for leprechaunism was examined and an unaffected child was correctly predicted by study of the functionality of the insulin receptor on cultured amniocytes and by echoscopic examination.
First‐trimester prenatal diagnosis of the nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant dna synthesis
Authors: Jaspers Nicolaas G. J. , van der Kraan Magna , Linssen Peter C. M. L. , Maçek Milan , Seemanová Eva , Kleijer Wim J. 
Published: March 2007

AbstractPrenatal diagnosis was performed in two pregnancies at risk of the Nijmegen breakage syndrome. In one pregnancy, an affected fetus was diagnosed by demonstration of radioresistant DNA synthesis, using autoradiographic detection of incorporated tritiated thymidine in cultured chorionic villus cells. The diagnosis was confirmed in fetal skin fibroblasts. In the other case, the fetus appeared unaffected.Using the same procedure, unaffected fetuses were predicted from chorionic villus cells in two pregnancies at risk of ataxia telangiectasia, which is another genetic disorder showing the feature of radioresistant DNA synthesis.The present biochemical method for prenatal detection of Nijmegen breakage syndrome and ataxia telangiectasia can be used as a simplified alternative to the cytogenetic procedures reported earlier for ataxia telangiectasia.
Prenatal diagnosis of a double bisatellited marker with an unusual copy number ratio
Authors: Waters J. J. , Ferguson‐Smith M. E. , Carter N. , Alexander J. L. , Hodgson S. V. 
Published: March 2007

AbstractPrenatal diagnosis, by amniocentesis, revealed mosaicism with respect to a bisatellited, apparently dicentric, DA/DAPI positive, de novo marker. The following cell lines were observed in decreasing order of frequency: 46,XX > 48.XX, + mar, + mar » 47,XX, + mar. The pregnancy was terminated and post‐mortem examination revealed an apparently normal fetus. Cytogenetic studies of fetal and placental tissues revealed approximately the same level of mosaicism together with the unusual copy number ratio seen in the amniotic fluid cultures. Non‐disjunction at the first post‐zygotic mitotic division giving rise to a mosaic: 46,XX/ 48,XX, + mar, + mar followed by subsequent mitotic instability of the marker could account for the unusual copy number ratio.
Prenatal diagnosis of citrullinaemia: Review of a 10‐year experience including recent use of DNA analysis
Authors: Northrup Hope , Beaudet Arthur L. , O'Brien William E. 
Published: March 2007

AbstractPrenatal diagnosis of citrullinaemia has been accomplished by three different methods to date: (1) enzyme assay of cultured fetal cells; (2) quantification of citrullirie in amniotic fluid supernatant; and (3) incorporation of [14C]citrulline into protein by cultured fetal cells. Our laboratory has used these methods to perform prenatal diagnosis for 28 fetuses over a 10‐year period. More recently, DNA polymorphisms were used for prenatal diagnosis by linkage analysis. Of the 28 fetuses studied, 23 were predicted to be unaffected, four were predicted to be affected, and results were conflicting in one case where [14C]citrulline incorporation erroneously indicated an affected fetus but linkage analysis correctly predicted an unaffected fetus. Because of low levels of enzyme activity in heterozygotes and in certain amniotic fluid cell types, biochemical diagnosis of citrullinaemia is complicated by the risk of false affected results, although [14C]citrulline incorporation is relatively reliable. When informative, linkage analysis is the preferable method for cases with a 25 per cent risk. The risk of false affected results makes prenatal diagnosis for cases with less than 25 per cent risk of questionable value.