bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lipids of the hexane extract from the roots of medicinal boraginaceous species
Authors: Papageorgiou Vassilios P. , Assimopoulou Andreana N. 
Published: July 2003

AbstractThe chemical compositions of hexane extracts of the lipid fraction of the roots of the medicinal Boraginaceous species Alkanna tinctoria, Onosma heterophylla, Macrotomia densiﬂora and Onosma hispidium are presented and their phytochemical relevance evaluated. The predominating fatty acids in all of the root lipids were stearic, palmitic, oleic, linoleic and γ‐linolenic acids, while the latter and stearidonic acid predominated in the seeds and leaves of various Boraginaceous species. The indigenous presence of methyl, ethyl and isopropyl esters of fatty acids, reported for the ﬁrst time in the roots of higher plants, is considered to be of particular importance in the biosynthesis of fatty substances. The results suggest the use of fatty acids as chemotaxonomic markers for Boraginaceous species and the utilisation of Boraginaceous species as new commercial sources for fatty acids with valuable medicinal and nutritional properties. Copyright © 2003 John Wiley & Sons, Ltd.
Current awareness in prenatal diagnosis
Authors:   John Wiley & Sons, Ltd.
Published: July 2003

AbstractIn order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre‐implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted
Prenatal diagnosis of triple X using fetal cells obtained by endocervical lavage
Authors: Xi Zhao Xiao , Suzumori Kaoru , Sato Takeshi 
Published: July 2003

AbstractPrenatal diagnosis of aneuploidies currently relies on invasive procedures such as chorionic villous sampling and amniocentesis. These methods can provide an accurate diagnosis of the fetal karyotype but are relatively invasive. Here, we report a case of the prenatal detection of triple X using fetal cells obtained by lavage of the endocervical canal prior to amniocentesis, following ultrasound diagnosis of hydrops fetalis. Copyright © 2003 John Wiley & Sons, Ltd.
Caliber of the coronary sinus in fetuses with cardiac defects with and without left persistent superior vena cava and in growth‐restricted fetuses with heart‐sparing effect
Authors: Chaoui R. , Heling K. S. , Kalache K. D. 
Published: July 2003

AbstractObjectiveTo assess reference ranges for fetal coronary sinus (CS) diameter and to compare them with values from fetuses showing heart defects with and without left superior vena cava (LSVC) as well as with severe intrauterine growth retardation and heart‐sparing effect on color Doppler.MethodsThe coronary sinus was visualized on two‐dimensional ultrasound in a plane slightly caudal to the apical four‐chamber view. For the normal range of the size of the CS in relation to gestational age, data was collected from 108/114 (95%) normal fetuses with good visualization between 20 weeks' gestation and term. Abnormal conditions comprised two groups: group 1 consisted of 52 fetuses with heart anomalies, including three subgroups: 11 fetuses with isolated LSVC emptying into the coronary sinus, 12 fetuses with LSVC associated with structural heart defects and 29 fetuses with structural heart defects but without LSVC. Group 2 consisted of 11 fetuses with severe intrauterine growth retardation and dilated coronary arteries as seen by color Doppler ultrasound.ResultsUnder normal conditions, there was a significant increase in the CS diameter with advancing gestational age (1.2–2.7 mm). Significant dilatation was found only in the two groups with LSVC (range 2.7–6.5 mm), independent of whether the finding was isolated or associated with cardiac defects.ConclusionCS visualization and measurements are easily feasible in the human fetus in the apical four‐chamber view. Significant dilatation of the CS is a sign of LSVC. The examiner should be aware of this condition as such dilatation is commonly falsely diagnosed as atrial or atrioventricular septal defect. Copyright © 2003 John Wiley & Sons, Ltd.
Combining nuchal translucency and serum markers in prenatal screening for Down syndrome in twin pregnancies
Authors: Wald Nicholas J. , Rish Simon , Hackshaw Allan K. 
Published: July 2003

AbstractA method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus‐specific NT measurements are averaged before risk is calculated and before the contribution of the serum markers is incorporated. For dichorionic twin pregnancies (taken as dizygous), the risk for each fetus based on the individual NT measurements is calculated, the two fetus‐specific risks are added together, and then the contribution of the serum markers is incorporated. In this way, all the screening markers can be used in combination to produce a pregnancy‐specific ‘pseudo‐risk’, rather than a fetus‐specific pseudo‐risk. We refer to pseudo‐risk because in the absence of sufficient data on the screening markers in affected twin pregnancies, a true risk estimate cannot be calculated. Tentative estimates are given of screening performance in twins using NT, the combined test (NT with first‐trimester serum markers), and the integrated test (NT with first‐ and second‐trimester serum markers), all interpreted with maternal age. Copyright © 2003 John Wiley & Sons, Ltd.
Histopathological findings of the nose of Down syndrome abortuses
Authors: Wong S. F. , Ng W. F. , Ho L. C. 
Published: July 2003

AbstractRecent reports of absent nasal bone in fetuses with Down syndrome have sparked much interest in the use of this finding for the screening of Down syndrome. We describe the histopathological findings of nasal bones of two fetuses with Down syndrome, one with absence and the other with normal ossification of the nasal bone. We propose that histopathological examination of the nasal bone could improve the accuracy of diagnosis of nasal hypoplasia among Down syndrome abortuses. Copyright © 2003 John Wiley & Sons, Ltd.
Fetal toxoplasmosis and negative amniocentesis: necessity of an ultrasound follow‐up
Authors: Gay‐Andrieu Françoise , Marty Pierre , Pialat Jean , Sournies Gilles , de Laforte Thierry Drier , Peyron François 
Published: July 2003

AbstractPrenatal diagnosis of congenital toxoplasmosis relies on the PCR test on amniotic fluid and ultrasound follow‐up of the fetus. We report two cases of toxoplasma infection during the first trimester of gestation with a discrepant diagnosis of fetal infection. PCR performed more than four weeks after the estimated date of contamination was negative. Ultrasound follow‐up was normal up to the third trimester when major hydrocephalus was detected, leading to pregnancy termination. In both cases, post‐mortem examination revealed a diffuse infection with severe brain lesions. These observations confirm the necessity to continue a monthly ultrasound follow‐up, even if amniocentesis is negative, in case of fetal toxoplasma infection in pregnancy. Copyright © 2003 John Wiley & Sons, Ltd.
Coping with termination of pregnancy for fetal abnormality in a supportive environment
Authors: Geerinck‐Vercammen C. R. , Kanhai H. H. H. 
Published: July 2003

AbstractObjectivesTo study the feelings of parents during and after termination of pregnancy (TOP) for fetal anomalies.MethodsSemi‐structured interviews were conducted before TOP, after six weeks and six months after TOP. The study group consisted of 89 couples, treated at our institution between 1994 and 1998, who terminated their pregnancy in the second and third trimester. Eighty‐six of them participated in at least one of the three interviews.ResultsMost parents were able to cope with the decisions they had to make, although a struggle between reason and emotion often occurred. Seeing the dead baby and saying farewell gave all parents a good feeling afterward. Feelings such as doubt, guilt, failure, shame, anger, anxiety and relief were experienced during the period of TOP and the following weeks but practically disappeared after six months; these feelings were more prevalent in women. Most of the couples mentioned that their relationship grew closer as a result of the loss and the grief. Relatives offered good support to most parents in the first weeks after delivery, but parents felt that this support lasted too short a time.ConclusionsSeeing the child and saying farewell and the medical and psychosocial support received from professional caregivers were of great value for the interviewees. Parents found the interviews helpful in the grieving process. Copyright © 2003 John Wiley & Sons, Ltd.
Health professionals' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot study
Authors: Hall Sue , Abramsky Lenore , Marteau Theresa M. 
Published: July 2003

AbstractObjectivesTo examine the association between the information health professionals report providing parents about sex chromosome anomalies (SCAs) and the outcomes of affected pregnancies.MethodsTelephone interviews were conducted with health professionals who disclosed the prenatal diagnosis of an SCA to parents. The statements they reported providing to parents about the condition were coded as positive, neutral or negative. Outcomes of the pregnancies were obtained from medical records.ResultsSix of the 23 pregnancies were terminated. Health professionals reported giving parents of these six cases a greater amount of negative information about an SCA than did the health professionals reporting on the information given to the parents who continued with their pregnancies. Health professionals reported giving a similar amount of positive and neutral information to both groups of parents.ConclusionThe results of this pilot study suggest that there is a positive association between the amount of negative information parents are given initially about a sex chromosome anomaly and the decision to terminate the affected pregnancy. This study is limited by its small sample size and reliance on health professionals' self‐reports of information provided to parents. Larger, prospective studies in which consultations are tape‐recorded and linked to parents' subsequent decision making and adjustment are needed. Copyright © 2003 John Wiley & Sons, Ltd.
First‐trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three‐dimensional ultrasound
Authors: Ruano Rodrigo , Picone Olivier , Benachi Alexandra , Grebille Anne‐Gaelle , Martinovic Jelena , Dumez Yves , Dommergues Marc 
Published: July 2003

AbstractTo illustrate the three‐dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three‐dimensional ultrasound. Because the parents were first‐degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two‐dimensional ultrasound performed by physicians aware of the history; the quality of three‐dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three‐dimensional surface‐rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three‐dimensional ultrasound confirmed the conventional two‐dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.
Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH)
Authors: Homer Jeanne , Bhatt Sucheta , Huang Bing , Thangavelu Maya 
Published: July 2003

AbstractResults from conventional cytogenetic studies on 21 609 amniotic fluid specimens were analyzed retrospectively to determine the residual risk for a cytogenetic abnormality if interphase FISH, capable of only detecting aneuploidy for chromosomes 13, 18, 21, X and Y, was performed and did not reveal an abnormality. Detection rates (the probability of detecting a cytogenetic abnormality when an abnormality is present) and residual risks (the likelihood of a cytogenetic abnormality, in view of normal interphase FISH results) were calculated for the four major clinical indications for prenatal diagnosis (advanced maternal age, abnormal maternal serum screen indicating increased risk for trisomy 18 or trisomy 21, abnormal maternal serum screen indicating increased risk for neural tube defects and ultrasound abnormality). Differences in detection rates were observed to depend on clinical indication and presence or absence of ultrasound abnormalities. The detection rate ranged from 18.2 to 82.6% depending on the clinical indication. The detection rates of abnormalities significant to the pregnancy being evaluated (i.e. abnormalities excluding familial balanced rearrangements and familial markers) were between 28.6 and 86.4%. The presence of ultrasound abnormalities increased the detection rate from 72.2 to 92.5% for advanced maternal age and from 78.6 to 91.3% for abnormal maternal serum screen, indicating increased risk for trisomy 18 or trisomy 21. With regard to residual risk, the risk for a clinically significant abnormality decreased from 0.9–10.1%, prior to the interphase FISH assay, to a residual risk of 0.6–1.5% following a normal interphase FISH result in the 4 groups studied. Providing patients with detection rates and residual risks, most relevant to their situation (clinical indication and presence or absence of ultrasound abnormality) during counseling, could help them better understand the advantages and limitations of interphase FISH in their prenatal diagnostic evaluation. Copyright © 2003 John Wiley & Sons, Ltd.
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
Authors: Whittock Neil V. , Turnpenny Peter D. , Tuerlings Joep , Ellard Sian 
Published: July 2003

AbstractAutosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses that are characterized by multiple vertebral segmentation defects and rib anomalies. In these patients, the entire vertebral column is malformed and is replaced by multiple hemivertebrae giving rise to truncal shortening, abdominal protrusion and non‐progressive spinal curvature. Genetic studies have shown that some cases of ARSCD are due to mutations in the somitogenesis gene, Delta‐like 3 (DLL3), that encodes a ligand for the Notch signalling pathway—ARSCD type 1. To date, 17 different DLL3 gene mutations have been reported. A consanguineous family of Turkish origin with ARSCD type 1 due to a homozygous DLL3 mutation requested genetic prenatal diagnosis. Using DNA from a chorionic villus sample, both linkage analysis of the DLL3/19q region and direct sequencing for the familial mutation demonstrated that the unborn fetus was an unaffected carrier. This is the first case of molecular genetic prenatal diagnosis in any form of SCD. Copyright © 2003 John Wiley & Sons, Ltd.
A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome
Authors: Roberts Eileen , Dunlop J. , Davis G. S. , Churchill D. , Davison E. V. 
Published: July 2003

AbstractObjectivesTo add to the knowledge base concerning confined placental mosaicism for trisomy 2.MethodsCytogenetic study of a late CVS referred for hyperechogenic bowel and raised AFP, and cytogenetic and molecular genetic study of a follow‐up amniocentesis. Ultrasound monitoring at regular intervals following the CVS result.ResultsAll cells examined from direct and cultured CVS showed a 47,XY,+2 karyotype. Amniocentesis showed a mosaic 47,XY,+2[8]/46,XY[81] karyotype. Uniparental disomy (UPD) studies on the amniotic fluid showed normal biparental inheritance. The pregnancy developed oligohydramnios and IUGR and resulted in a 26‐week liveborn male infant with a 46,XY karyotype, which died after 3 days because of complications of severe prematurity. Placental villi post delivery showed only the 47,XY,+2 cell line.ConclusionsThis case represents a further example of confined placental mosaicism (CPM) for trisomy 2 associated with oligohydramnios, IUGR and poor pregnancy outcome. Copyright © 2003 John Wiley & Sons, Ltd.
Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin
Authors: Weiss Amir , Shalev Stavit , Weiner Ehud , Shneor Yona , Shalev Eliezer 
Published: July 2003

AbstractPrenatal diagnosis of 5p deletion syndrome, or cri du chat, following an abnormally low measurement of a screening of serum human chorionic gonadotrophin (hCG), is reported. Karyotyping following amniocentesis revealed a terminal deletion in the short arm of one chromosome 5. The pregnancy was electively terminated. 5p deletion syndrome has been described with abnormally high hCG levels and normal hCG levels. This is the first report of its association with abnormally low levels. The association between chromosomal abnormalities and hCG is discussed. Copyright © 2003 John Wiley & Sons, Ltd.
Very low alpha‐fetoprotein in Down syndrome maternal serum screening
Authors: Muller Françoise , Dreux Sophie , Sault Corinne , Galland Armelle , Puissant Hugues , Couplet Gisèle , Lemay Catherine , Larcher Marie‐Estelle , Renom Gilles ,   for the ABA Group
Published: July 2003

AbstractObjectiveTo establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP.MethodsAFP values below 2 µg/L and borderline values up to 3 µg/L were retrospectively analysed in 839 773 singleton pregnancies included in a programme for routine screening of trisomy 21 maternal serum markers.ResultsSerum AFP was undetectable (≤2 µg/L) in 8 cases, giving a frequency of 1/105 000. The calculated risk of Down syndrome was ≥1/250 in 5 cases. Fetal karyotype was normal. Seven of these pregnancies went to term (39–41 weeks) uneventfully, and birth weight was normal (3050–4110 g). In the 8th case, fetal death occurred at 35 weeks due to severe maternal diabetes. AFP levels between 2.1 and 3.0 µg/L were noted in 7 other cases. The calculated risk of Down syndrome was ≥1/250 in 5 cases, and fetal karyotype was normal. Pregnancies went to term in 4 cases (33–41 weeks), and birth weight was normal (3000–3380 g). In 3 cases, low hCG (<0.6 MoM) was associated with low AFP, and fetal death occurred at 15 to 16 weeks.ConclusionOnce technical errors have been excluded (repeat assay in a second run, calcium assayed to exclude the interference of EDTA for fluorimetric methods, dilution to exclude interfering antibodies, running on an alternative analyser, checking a second sample), very low second‐trimester maternal serum AFP should prompt ultrasound examination in order to check fetal viability. Congenital AFP deficiency, an extremely rare disorder (1/100 000), should be suspected. It has no consequences for fetal and infant development, and parents should be reassured. Copyright © 2003 John Wiley & Sons, Ltd.
Increased total cell‐free DNA in the serum of pregnant women carrying a fetus affected by trisomy 21
Authors: Spencer Kevin , de Kok J. B. , Swinkels D. W. 
Published: July 2003

AbstractObjectiveAnalysis of the levels of cell‐free fetal and total DNA in serum of women carrying a male fetus affected by trisomy 21, and comparison of these levels with those in women carrying a normal male fetus.MethodsDNA was extracted from archived second‐trimester maternal serum samples collected as part of a prenatal screening program. A total of 10 cases with trisomy 21 male fetuses were compared with 10 controls (male fetuses) with samples matched for duration of storage and gestational age. Real‐time quantitative PCR of the SRY and albumin genes was used to quantify fetal and total DNA respectively.ResultsThe median fetal DNA level in the group of 10 pregnancies with trisomy 21 was 31.98 cell‐equivalents per mL compared to 34.06 in the control group. The difference was not significant. The median total DNA level in women with a trisomy 21 fetus was significantly higher (P = 0.029) than that in controls (36 152.6 vs 5832.81 cell‐equivalents per mL).ConclusionsAlthough we could not confirm previous studies of an increased amount of fetal DNA in pregnancies affected by trisomy 21, we did find increased levels of total DNA. The possible reasons for these observations are discussed with respect to previous findings. Larger studies are needed to elucidate the true value, if any, of measurement of fetal and total DNA in maternal serum in the context of prenatal screening for chromosomal abnormalities. Copyright © 2003 John Wiley & Sons, Ltd.
Combined first‐ and second‐trimester screening for Down syndrome: an evaluation of proMBP as a marker
Authors: Rode Line , Wøjdemann Karen R. , Shalmi Anne‐Cathrine , Olesen Larsen Severin , Sundberg Karin , Nørgaard‐Pedersen Bent , Christiansen Michael , Tabor Ann 
Published: July 2003

AbstractObjectivesTo estimate the screening performance of different combinations of first‐ and second‐trimester markers, including a new marker, the proform of eosinophil major basic protein (proMBP).MethodsThe population comprised 195 singleton pregnancies with a normal outcome enrolled in the Copenhagen First Trimester Study, in which a serum sample was available from both the first and the second trimester. The performance of different marker combinations was estimated by receiver–operator–characteristics (ROC) analysis using a Monte Carlo simulation and distributions of log10MoM markers and their correlations, derived from our normal material and Down syndrome cases from the literature.ResultsUsing a fixed screen‐positive rate (SPR) of 5%, the first‐trimester combined test [nuchal translucency (NT), PAPP‐A and free β‐hCG] yielded a detection rate (DR) of 76%, and the integrated test (NT, PAPP‐A, AFP, hCG, uE3 and inhibin A) yielded a DR of 86%. With a DR of 90%, the best combination was the first‐trimester β‐hCG and NT with the second‐trimester proMBP and AFP. ProMBP combined with the triple test increased the DR from 62 to 83%, whereas the addition of inhibin A only increased the DR to 69%.ConclusionThese results suggest that proMBP may be an important new marker in Down syndrome screening and, in particular, a good substitute for inhibin A. Copyright © 2003 John Wiley & Sons, Ltd.