bluuebunny/crossref_metadata_2025_split huggingface dataset:
Attitudes of women of childbearing age towards prenatal diagnosis in Southeastern France
Authors: Julian‐Reynier Claire , Macquart‐Moulin Genevieve , Moatti Jean‐Paul , Loundou Anderson , Aurran Yvette , Chabal Françoise , Aymé Ségolene 
Published: March 2007

AbstractThe objective of this study was to explore women's attitudes towards prenatal diagnosis of trisomy 21 and to examine some of the factors possibly responsible for these attitudes before implementing in real practice serological screening of pregnant women at risk for trisomy 21. We carried out a telephone survey on a representative sample of women who had recently had a normal livebirth delivery in the Marseille district in 1990. The participation rate was 80 per cent and the average age of the mothers was 28‐9 years. Among the 514 women interviewed, 78 per cent stated that they would ask for an amniocentesis for a 1 per cent risk of trisomy 21 at their next pregnancy. When adjusting for confounding factors, the decision to have or not to have an amniocentesis was found to depend not only on the women's attitude towards induced abortion, but also on their understanding of the risk involved and on the social context (knowing a handicapped child, discussion with the father). It also depended on the women's age and on what they knew about amniocentesis from the medical point of view. The risk of miscarriage can influence a woman's choice but this objection was not found to affect the women's decisions significantly in our survey. The data showed the existence of a high potential demand for fetal karyotyping.
Prenatal diagnosis of gastrointestinal obstruction: A correlation between prenatal ultrasonic findings and postnatal operative findings
Authors: Dell'Agnola C. A. , Tomaselli V. , Teruzzi E. , Tadini B. , Coran A. G. 
Published: March 2007

AbstractThe impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10‐year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.
First‐trimester biochemical screening for fetal chromosome abnormalities and neural tube defects
Authors: Aitken David A. , McCaw Gary , Crossley Jennifer A. , Berry Esther , Connor J. Michael , Spencer Kevin , Macri James N. 
Published: March 2007

AbstractAlpha‐fetoprotein (AFP), unconjugated oestriol (UE3), intact human chorionic gonado‐trophin (intHCG), and the free β subunit of chorionic gonadotrophin (FβHCG) were investigated in a series of 21 chromosomally abnormal and 14 open neural tube defect pregnancies ascertained from a series of 14 000 prospectively collected maternal serum samples at 6–14 weeks' gestation. In 16 cases of Down's syndrome, significant reductions were found for AFP (0.65 multiples of the normal median) and UE3 (0.67 MOM). IntHCG levels were unaltered (0.97 MOM) but a significant increase was found for FβHCG (1.96 MOM). Significant correlations were found for AFP and UE3 in the controls and for int HCG and FβHCG in both the control and the Down's syndrome pregnancies. In a group of five trisomy 18 pregnancies, median MOMs were for AFP 0.71, for UE3 0.34, for intHCG 0.27, and for FβHCG 0.15. None of 13 pregnancies with open neural tube defects at 8‐13 weeks gestation had elevated maternal serum AFP levels, whereas matched second‐trimester samples from the same pregnancies at 16‐18 weeks gestation all had significantly elevated AFP levels. Thus, biochemical screening for chromosome abnormalities may be practicable in the first trimester using free β human chorionic gonadotrophin in combination with AFP and maternal age. However, a separate screening protocol using AFP at 15‐18 weeks gestation would still be required for effective detection of neural tube defects.
Women's opinions on the offer and use of maternal serum screening
Authors: Roelofsen E. E. C. , Kamerbeek L. I. , Tymstra Tj. , Beekhuis J. R. , Mantingh A. 
Published: March 2007

AbstractWe studied the opinions and experiences concerning maternal serum screening of two groups of women: (A) women who were not eligible for prenatal diagnosis; and (B) women for whom prenatal diagnosis was available because of advanced maternal age, and who either underwent chorionic villus sampling or amniocentesis. Many of the women were in favour of the availability of serum screening and would apply for this test in a future pregnancy. This applied also to many respondents who had previously undergone prenatal diagnosis. Most of these women, however, did not intend to decline diagnostic amniocentesis if the screening results did not indicate an increased risk. The majority of the group of respondents of 36 years and over did not consider it acceptable if age indication was dropped altogether.A system based on serum screening will have other implications than a policy based on age indication, since specific individual risk assessment is perceived as being of more significance than a risk statistically derived from age alone. Serum screening is often seen as a means of reassurance and many women are not aware of the possible drawbacks. As technology becomes increasingly complicated, counselling has to be adjusted correspondingly. Further research is needed to establish whether and how distress can be minimized and well‐considered individual choice can be achieved.
On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome
Authors: Martini G. , Carillo G. , Catizone F. , Notarangelo A. , Mingarelli R. , Dallapiccola B. 
Published: March 2007

AbstractA 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39‐year‐old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non‐disjunction.
Prenatal cystic fibrosis carrier screening: Factors in a woman's decision to decline testing
Authors: Mennie M. E. , Gilfillan A. , Compton M. E. , Liston W. A. , Brock D. J. H. 
Published: March 2007

AbstractAmong 2207 women eligible to be screened for cystic fibrosis (CF) carrier status during pregnancy, 325 (15 per cent) declined to be tested. Of these, 260 (80 per cent) answered a questionnaire soliciting their reasons for not participating. The main factor was opposition to termination of pregnancy, with 43 per cent being against termination for any reason and another 11 per cent against termination of a CF fetus. Other reasons given were partner's disapproval or non‐participation (10 per cent), perceived risk of a CF child being low (7 per cent), the error rate of the test (6 per cent), and the generation of unacceptable levels of anxiety (5 per cent). Eleven women (4 per cent) said that they did not wish to be tested during pregnancy, but only six of these would have accepted screening at another time.
Application of fluorescent in situ hybridization for ‘de novo’ anomalies in prenatal diagnosis
Authors: Van Opstal D. , Eussen H. J. , Van Hemel J. O. , Sachs E. S. 
Published: March 2007

AbstractFluorescent in situ Hybridization (FISH) was carried out for three cases of abnormal karyotypes in prenatal studies. Two concerned de novo structural anomalies and the third a marker chromosome. The origin of the extra material could be defined in all three cases, which gives a better insight into the relationship between genotype and phenotype and makes more adequate genetic counselling possible.
Prenatal diagnosis of gall bladder anomalies—report of 17 cases
Authors: Bronshtein M. , Weiner Z. , Abramovici H. , Filmar S. , Erlik Y. , Blumenfeld Z. 
Published: March 2007

AbstractWe describe here 17 cases of fetal gall bladder anomalies, detected as early as the 14th week of gestation, out of 10 016 fetal systemic examinations performed by us in the last 6 years (015 per cent). In seven cases, agenesis of the fetal gall bladder was detected. The diagnosis was confirmed by post‐abortal examination in five cases and in two post‐partum. In six other cases, a left‐sided gall bladder and in one case, a ‘floating’ gall bladder were detected at 15 weeks' gestation. In two cases, a septated or bilobed gall bladder was visualized. None of these 15 cases was dyskaryotic, but in five cases, two with agenesis and three left‐sided gall bladders were associated with other fetal malformations. In two other cases, the gall bladder appeared dysmorphic on sonographic examination and in both of them intrauterine growth retardation and other anomalies were detected. Trisomy 18 was diagnosed by amniocentesis in one of them. According to our experience, failure to visualize the fetal gall bladder by the 15th gestational week is diagnostic of its absence and should raise the differential diagnosis between gall bladder atresia, which has a good prognosis, and external biliary atresia, which has a poor prognosis. Further experience is needed to characterize the various gall bladder malformations and their prognosis.
Prenatal diagnosis of DHPR deficiency by direct detection of mutation
Authors: Smooker Peter M. , Cotton Richard G. H. , Lipson Anthony 
Published: March 2007

AbstractPrenatal diagnosis was requested by a family carrying a 3 base‐pair insertion in the dihydropteridine reductase (DHPR) coding region. A chorionic villus sample was obtained and fetal DNA was isolated directly from this. Diagnosis was performed by a polymerase chain reaction (PCR)‐based technique, with a simple electrophoretic assay for the insertion. The fetus was found to be heterozygous for the insertion. This is the first time that prenatal diagnosis of DHPR deficiency has been performed by direct detection of the mutation.
Cytogenetic diagnoses after chorionic villus sampling are less reliable in very‐high‐ or very‐low‐risk pregnancies
Authors: Kennerknecht Ingo , Barbi Gotthold , Wolf Michael , Djalali Mahmoud , Grab Dieter , Terinde Rainer , Vogel Walther 
Published: March 2007

AbstractAn increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false‐negative and false‐positive findings propagate the combined use of direct and culture methods. Yet large collaborative studies have shown that in approximately two‐thirds of diagnostic cases only one procedure is applied. Moreover, the accuracy of a cytogenetic investigation depends not only on the ontogenetic origin of the tissues investigated, but also on interacting factors such as the ‘a priori risk’ and the ‘predictive value of a cytogenetic finding’. On this basis a differentiated prenatal diagnostic procedure is discussed, including either sole short‐term culture (STC), combined STC and long‐term culture (LTC), primary amniocentesis (AC), or primary percutaneous umbilical blood sampling (PUBS). The predictive value of the cytogenetic diagnosis from CVS varies significantly dependent on the a priori risk of a chromosome aberration and, in the case of an abnormal karyotype, on the specific chromosome involved. A non‐mosaic and ‘non‐lethal’ trisomy detected in STC is highly representative of the embryo/fetus, but there are exceptions of limited predictive value, e.g., trisomy 18. Guided by the strategy of an optional follow‐up by LTC, AC, or PUBS in 1317 successive CV samplings, we are not aware of a false‐negative diagnosis, but probably had one false‐positive diagnosis: 47,XXY after STC; 46,XY after LTC. When referring to the rate of fetuses with an unbalanced karyotype expected in the different indication groups, a relative increase of false‐positive findings in the very‐low‐risk group (maternal age ⩽35 years of age) and of false‐negative findings in the very‐high‐risk group (abnormal ultrasonographic findings) of pregnant women when only performing CVS becomes obvious. Because of this dilemma, AC or—especially in the latter group—PUBS might be primarily offered to these indication groups instead of CVS.
Transabdominal chorionic villus sampling in the second and third trimesters of pregnancy: Chromosome quality, reporting time, and feto‐maternal bleeding
Authors: Smidt‐Jensen Steen , Lundsteen Claes , Lind Anne‐Marie , Dinesen Kirsten , Philip John 
Published: March 2007

AbstractTransabdominal chorionic villus sampling (TA‐CVS) was performed in 210 pregnancies from 13 to 38 weeks using a double‐needle technique. The sampling success was comparable to first‐trimester TA‐CVS and the diagnostic success rate was 98.2 per cent for the short‐term technique and 99.3 per cent for cultured villi. Two fetuses could not be karyotyped. We found the chromosome quality to be similar to that in the first trimester, comparing the number of G‐bands and other chromosome attributes. There were no unintended losses in a group (n = 142) with no sonographic abnormality, except for one death in utero at 38 weeks, 20 weeks after sampling. Chromosomal aberrations were seen in 19 per cent of cases with abnormal sonograms (n = 58). One case of a discordant karyotype was found (false‐negative prediction of Down's syndrome by the short‐term preparation). There were no cases of fetal demise due to feto‐maternal bleeding. It is suggested that double‐needle TA‐CVS in advanced pregnancies combines the advantages of rapid karyotyping of chromosomes of good quality and low risk for the fetus, and seems to be easier to practise and is probably safer than cordocentesis.
False non‐paternity in a family for prenatal diagnosis of β‐thalassaemia
Authors: Chan Vivian , Chan T. P. T. , Lau K. , Todd D. , Chan T. K. 
Published: March 2007

AbstractInitial screening for the common β‐thalassaemia mutations with allele‐specific oligonucleo‐tide probes in an at‐risk family suggested non‐paternity. Subsequent DNA fingerprinting of the members proved otherwise. The mother had a codon 41/42 frameshift mutation and the father's defect, determined by direct sequencing of PCR‐amplified β gene, was a codon 43 nonsense mutation. In the affected children, the close proximity of these two defects resulted in the absence of a hybridization signal to the normal probe in that region and a wrong assumption of homozygosity for the codon 41/42 mutation. The non‐reactivity of the father's amplified DNA to the codon 41/42 thalassaemic probe accounted for the initial wrong conclusion of non‐paternity. Since prior screening for β‐thalassaemia mutations is done in all prenatal diagnosis programmes and concomitant inheritance of these two defects is relatively common in the Chinese, this ‘artefact’ of false non‐paternity is worth noting.
Transcervical CVS sample size: Correlation with placental location, cytogenetic findings, and pregnancy outcome
Authors: McIntosh Nathalie , Rubin Cathi , Wang Boris , Williams John 
Published: March 2007

AbstractData from 2907 transcervical CVS cases performed on singleton pregnancies were reviewed retrospectively and villus sample size was correlated with cytogenetic results, placental location, maternal age at the expected date of confinement (EDC), gestational age at the time of sampling, birth weight, gestational age at the time of delivery, and pregnancy outcome. No correlation was noted between villus sample size and maternal age, gestational age at sampling, gestational age at delivery, birth weight, or pregnancy outcome. An inverse correlation between villus sample size and percentage of abnormal cytogenetic findings was statistically significant (X2 = 8·53, p <0·01). The percentage of small samples was greater when the placenta was anterior, lateral, or fundal than when the placenta was posterior.
Serum hCG assay: A method for detection of contamination of fetal blood samples
Authors: Dommergues M. , Bunduki V. , Muller F. , Mandelbrot L. , Morichon‐Delvallez N. , Dumez Y. 
Published: March 2007

AbstractSerum human chorionic gonadotrophin (hCG) can be assayed in specimens obtained by percutaneous fetal blood sampling to check for the absence of maternal blood or amniotic fluid contamination. In order to assess the accuracy of this approach, we measured serum hCG in 44 pure fetal blood samples obtained by intracardiac puncture. The mean fetal serum hCG concentration was 52 IU/l, and the ratio of maternal to fetal serum hCG concentration never exceeded 1 · 1 per cent, which represents the smallest contamination rate detectable by this method.
An unusual tricentric X chromosome detected prenatally
Authors: Caine A. , Mason G. , Daly H. A. , Ricketts S. M. 
Published: March 2007

AbstractWe describe a female fetus with ade novoX chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G‐banding indicated a duplication of X short arms, four copies of the proximal long arm, and deletion of the distal long arm of the X. C‐banding showed the presence of one active and two inactive centromeres and X‐inactivation studies demonstrated the tricentric chromosome to be late replicating in all cells examined. The origin of this complexde novorearrangement appears to have involved two separate breakage events, the first leading to the production of a dicentric X chromosome and the second generating the tricentric X.
Rapid karyotyping in prenatal diagnosis: A comparative study of the ‘pipette method’ and the ‘in situ’ technique for chromosome harvesting
Authors: Claussen Uwe , Ulmer Renate , Beinder Ernst , Voigt Hans‐Joachim 
Published: March 2007

AbstractRapid karyotyping in the second and third trimesters has important implications for the management of pregnancies at risk. From September 1985 to March 1992, 735 amniotic fluid samples sent to our laboratory for rapid karyotyping from 64 different diagnostic centres of the Federal Republic of Germany were included in a comparative study on harvesting for chromosome analysis using the ‘pipette method’ or the ‘in situ’ technique. The average time between preparation of the amniotic fluid and verbal notification of the analysed karyotype was 5·41 days. The ‘pipette method’ needed on average 4·65 days, and the ‘in situ’ technique 5·97 days. In comparison with other more invasive techniques available for rapid karyotyping such as cordocentesis and placental biopsy, amniocentesis and subsequent chromosome harvesting using the ‘pipette method’ and/or the ‘in situ’ technique proved very useful and efficient. The overall incidence of chromosome aberrations was 15·3 per cent. The high rate of structural chromosome aberrations and uncommon aneuploidies found in our investigation (12 per cent) indicates that for rapid karyotyping in the second and third trimesters, conventional cytogenetic techniques cannot be replaced by faster techniques based on fluorescent in situ hybridization on interphase cells in the near future.
Filtration and recirculation of early amniotic fluid. Evaluation of cell cultures from 100 diagnostic cases
Authors: Sundberg Karin , Smidt‐Jensen Steen , Lundsteen Claes , Agerbæk Kirsten , Philip John 
Published: March 2007

AbstractDue to the low cell concentration, cultures from early amniotic fluid specimens usually require 2–3 weeks in culture prior to karyotyping. The purpose of this study was to evaluate the culture quality of amniotic fluid cells from early pregnancy, obtained by a new filter technique. The hypothetical advantage of the technique was that the increased cell yield might reduce the culture time before karyotyping. Culture quality was assessed by the number of colonies, the percentage of colonies containing mitoses in filter and control cultures, and the culture time. The setting was a consecutive clinical trial. One hundred samples were obtained from ongoing pregnancies at 11–14 weeks of gestation (mean 12·8 weeks). By circulating a mean of 26 ml of amniotic fluid through a cell filter system leading the cell‐free fluid back to the amniotic cavity, the cell yield was increased in the sample of 7 ml corresponding to the dead space of the filter system. The culture results were compared with control cultures from 5 ml samples drawn from the same pregnancies prior to recirculation. The cultures from the first flushing of the filter system yielded 2·6 times more colonies and in total 4·2 times more colonies were found in the three cultures grown from each filter sample when compared with the control cultures. Moreover, the filter cultures showed significantly more colonies with mitoses. The mean culture time was 8·0 days for the filter cultures, from which the karyotypes were analysed. The controls would have needed more time in culture to fulfil the diagnostic criteria for karyotyping. One case of 47,XY, + 21 was found; the rest had normal karyotypes. We conclude that the filter technique improves the culture quality of early amniotic fluid samples and allows early arrest of the cultures.
Maternal serum CA 125 levels in pregnancies with chromosomally‐normal and ‐abnormal fetuses
Authors: Van Lith J. M. M. , Mantingh A. , De Bruijn H. W. A. ,   For the Dutch Working Party on Prenatal Diagnosis
Published: March 2007

AbstractWe measured the maternal serum cancer antigen 125 (MS‐CA 125) levels in 98 nonpregnant women, 765 first‐ and second‐trimester pregnancies with chromosomally‐normal fetuses, and 54 chromosomally‐abnormal pregnancies. To determine the MS‐CA 125 concentration, we used a new automated microparticle enzyme immunoassay with low inter‐assay variability. The median MS‐CA 125 level decreased from the first to the second trimester of pregnancy and was higher than that in non‐pregnant women. We found no difference between normal and Down's syndrome (n = 29) pregnancies ( t‐test: t = 0·57, p >0·5). The MS‐CA 125 levels in pregnancies with other chromosomal abnormalities showed no difference either, compared with the normals. We conclude that MS‐CA 125 is not a useful marker for fetal Down's syndrome, nor for other chromosomal disorders in pregnancy.
Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?
Authors: Verlingue C. , David A. , Audrezet M. P. , Le Roux M. G. , Mercier B. , Moisan J. P. , Ferec C. 
Published: March 2007

AbstractThe cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false‐negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.