bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of transabdominal and transcervical CVS and amniocentesis: Sampling success and risk
Authors: Smidt‐Jensen Steen , Philip John 
Published: March 2007

AbstractA total of 2931 women randomized to either transabdominal CVS, transceirvical CVS, or amniocentesis were studied. Unless intended or unintended abortion had occurred, they had completed up to 28 weeks of pregnancy. No significant difference was seen between total fetal loss in the transabdominal CVS group and the amniocentesis group (6.5 and 6.8 per cent, respectively, SE difference = 0.92 per cent, p = 0.01). The total fetal loss in the transcervical CVS group was 10.1 per cent. After pooling our data with data from the Canadian randomized study and the American non‐randomized study, the difference in risk between trans‐cervical CVS and amniocentesis was 1.8 per cent (SE difference = 0.64 per cent, p = 0.8). When the number of failed procedures and those cases evaluated as infeasible for the assigned method‐for anatomical reasons‐are compared, the overall sampling efficacy is poorer transcervically than transabdominally.
Chorionic villus sampling: Analysis of fetal losses to delivery, placental pathology, and cervical microbiology
Authors: Wilson R. D. , Cho K. , McGillivray B. , Kalousek D. , Shaw D. , Baldwin V. 
Published: March 2007

AbstractA population of 1639 patients were seen for chorionic villus sampling (CVS). Embryonic death was identified at ultrasound in 5.3 per cent of patients. The number of patients undergoing CVS was 1551, with 1416 transcervical procedures and 135 transabdominal procedures. The most common indication for CVS was advanced maternal age. Spontaneous pregnancy losses identified by increased risk of pregnancy loss with increasing aspiration attempts. The total fetal loss for this population was 5.4 per cent with the pregnancy loss estimated due to procedure being 1.2 per cent. Analysis of placentae from patients having CVS and amniocen‐tesis showed no differences. Microbiological assessment prior to CVS was similar to previous publications.
Risk of miscarriage after transcervical and transabdominal CVS in relation to bacterial colonization of the cervix
Authors: Baumann P. , Jovanovic V. , Gellert G. , Rauskolb R. 
Published: March 2007

AbstractCervieo‐genital colonization with micro‐organisms poses a potential threat to the pregnancy when transcervical (TC) CVS is performed. In order to evaluate this threat, cervical swabs in 478 patients were obtained and cultured for bacteria, yeasts, and mycoplasmas; chlamydias were detected by an enzyme immunology test. Two hundred and seventy‐one patients had CVS (ione transvaginally and 207 underwent transabdominal (TA) CVS. Transvaginal specimens were obtained in 61.6 per cent by forceps biopsy. Overall in 29.9 per cent of patients micro‐organisms were detected, the rate and distribution of different species being the same in both groups. There were 36 (7.5 per cent) miscarriages up to 28 weeks of gestation in the combined groups, 29 (10.7 per cent) in the TC‐CVS group and 7 (3.4 percent) in the TA‐CVS group. When miscarriages occurred after TC‐CVS, bacteria/yeasts were involved in 10.3 per cent cif cases and mycoplasmas in 37.9 per cent, this proportion being almost the same in early (<2 weeks) and late (>2 weeks) miscarriages. After TA‐CVS, in 28.6 per cent only mycoplasmas, and this only in late miscarriages (> 2 weeks), were involved, accounting for 40 per cent of late miscarriages.
Transcervical (TC) and transabdominal (TA) CVS for prenatal diagnosis in rotterdam: Experience with 3611 cases
Authors: Jahoda M. G. J. , Brandenburg H. , Reuss A. , Cohen‐Overbeek T. E. , Wladimiroff J. W. , Los F. J. , Sachs E. S. 
Published: March 2007

AbstractData from 3611 consecutive CVS (TC, N= 1780; TA, N= 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate < 28 weeks. For TC‐CVS the gestational age varied from 9.3–11.6 weeks, for TA‐CVS from 9.3–20 weeks. Sampling efficacy at first attempt was 86.5 per cent and 95 per cent respectively. In 4.6 per cent an abnormal result was established. In older mothers (N=2362) the fetal loss rate was significantly higher (p = <0.05) when sampled before 12 weeks (TC‐CVS 6.2 per cent, TA‐CVS 5.8 per cent). When the CVS (TA) was performed after 12 weeks the fetal loss rate decreased to 2.4 per cent.In 1079 younger women the fetal loss rate remained low (TC 2.8 per cent; TA < 12 weeks 1.8 per cent; TA > 12 weeks 1.7 per cent) and was not influenced by gestational age at the time of sampling. We concluded both methods safe and reliable when the choice of application considers maternal age.
Trisomy 18 in chorionic villus sampling: Problems and consequences
Authors: Wirtz A. , Gloning K.‐Ph. , Murken J. 
Published: March 2007

AbstractAmong 1547 patients undergoing first‐trimester prenatal diagnosis, 100 fetal chromosome aberrations were detected. Thirteen of these involved chromosome 18. In two structural abnormalities of chromosome 18, the aberration could be excluded in amniotic fluid cells and two healthy infants were born. Trisomy 18 was not confirmed in amniotic fluid cells in three trisomy 18 mosaics. In eight non‐mosaic trisomy 18 first‐trimester diagnoses, the diagnosis was excluded by amniotic fluid cells or fetal cultures in four, and confirmed in the remaining four. Diagnosis of chromosome 18 aberrations in the direct preparation should be confirmed in the long‐term culture of the chorionic villus sample or by amniotic fluid cultures.
Uncommon chromosomal mosaicism in chorionic villi
Authors: Kennerknecht I. , Barbi G. , Djalali M. , Just W. , Vogel W. , Terinde R. 
Published: March 2007

AbstractThree cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non‐disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non‐disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues.
Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies
Authors: Miny P. , Hammer P. , Gerlach B. , Tercanli S. , Horst J. , Holzgreve W. , Eiben B. 
Published: March 2007

AbstractDiscrepant chromosome findings in placenta and fetus (false negative and false positive) after chorionic villus sampling (CVS) are mainly due to confined mosaicism. Non‐mosaic normal or abnormal chromosome counts after direct preparation and culture nearly always correctly reflect the fetal chromosome constitution. False‐negative results have almost exclusively been restricted to cytotrophoblast cells not representing a fetal chromosome abnormality. Diagnosis of placental mosaicism definitely requires an adequate follow‐up by amniocentesis, fetal blood sampling, or sonography before a pregnancy is terminated. When direct preparations and cultured cells are used for cytogenetic diagnoses and placental mosaicism is not taken as proof for a chromosomal abnormality in the fetus, CVS is an accurate diagnostic tool.
Proliferation kinetics in native chorionic villus cells
Authors: Kennerknecht I. , Baur‐Aubele S. , Vogel W. 
Published: March 2007

AbstractIn accordance with observations by other groups direct CVS preparations reveal only a few mitoses, whereas semi‐direct cultures (overnight incubation) give good results. By monitoring the BrdU uptake with an immunological method, a delay in the proliferation activity in native villi could be observed up to 7 h after biopsy.
Chorionic villus cDNA library displays expression of butyrylcholinesterase: Putative genetic disposition for ecological danger
Authors: Zakut Haim , Lieman‐Hurwitz Judith , Zamir Ronit , Sindell Lilian , Ginzberg Dalia , Soreq Hermona 
Published: March 2007

AbstractGene expression in chorionic villi may be particularly vulnerable to environmental exposure to poisonous substances. To reveal villus gene products which are thus subject to poisoning, molecular cloning was employed. A single sample of apparently normal chorionic villi (approximately 40 mg, from 9 weeks' gestation) was microscopically dissected to ensure purity of fetal tissue. Total RNA was extracted by isothiocyanate and directly employed for reverse transcription. A chorionic villus cDNA library was constructed from this preparation in the phage vector lambda gt10 and contained 60 000 independent recombinants. In the present study, this cDNA library was screened with labelled cDNA probes encoding human butyrylcholinesterase (BCHE) and acetylcholinesterase (ACHE). Nine BCHEcDNA clones were isolated out of 1.6 × 106 phages (5.7 × 10−6 of screened recombinants) and exhibited similar restriction patterns to those observed for BCHEcDNA from other human tissues. In contrast, no ACHEcDNA clones could be found in 4.0 × 106 screened phages (<2.5 × 10−6 of recombinants). These findings demonstrate efficient transcription (similar to fetal brain levels) from the BCHE gene but not from the ACHE gene in chorionic villi, and support the notion that BCHE is involved in chorionic villus growth and development.
Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin‐Bell syndrome
Authors: Tommerup N. , Søndergaard F. , Hanauer A. , Oberle I. , Bang J. , Barbi B. , Bech B. , Davies K. , Froster‐Iskenius U. , Gustavson K.‐H. , van der Hagen C. B. , Heiberg A. , Kristoffersen U. , Mikkelsen M. , Miny P. , Nielsen K. B. , Rasmussen K. , Schinzel A. , Tranebjaerg L. , Tønnesen T. , Wahlström1 J. 
Published: March 2007

AbstractEarly prenatal diagnosis of the fragile X was attempted in 44 pregnancies, including one twin pregnancy at risk of Martin‐Bell (MB) syndrome. The sex ratio was 24M:21F. The fragile site was reproducibly demonstrated in cultured chorionic villus (CV) cells in eight male and five female fetuses. Six of the male and three of the female fetuses were terminated. Simultaneous RFLP analysis provided confirmative data with flanking DNA markers in 3 of 13 analysed cases. Recombination and/or non‐informativeness at available distal and/or proximal loci were found in nine cases. In one male fetus, discordance between the haplotype and cyto‐genetics (fragile‐X‐negative) suggested the presence of a normal male transmitter, a double meiotic cross‐over within the region, or a false‐negative cytogenetic diagnosis. However, discordance between prenatal and post‐termination/postnatal cytogenetic findings was not observed in this series. The use of excess thymidine for induction of the fragile X in cultured CV cells provided in the majority of cases a safe and rapid method for cytogenetic diagnosis, with options for early induced termination in fragile‐X‐positive pregnancies, for simultaneous RFLP analysis, and for subsequent second‐trimester analysis of fetal blood in complicated cases.
First‐trimester screening for fetal chromosomal abnormalities. Preliminary results
Authors: van Lith J. M. M. 
Published: March 2007

AbstractWe have started a multicentre trial to study the possibilities of first‐trimester maternal serum screening for fetal chromosomal abnormalities. Maternal blood samples were obtained before 13 weeks of gestation. We present the preliminary results of the first 950 patients on alpha‐fetoprotein (AFP). Results on cancer antigen 125 (CA 125) in Down's syndrome and normal pregnancies are also presented. We conclude that the results on AFP are promising and that CA 125 might be predictive for fetal Down's syndrome.
Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: Their characterization and delineation of defects in pregnancies at risk
Authors: Dallaire L. , Michaud J. , Melancon S. B. , Potter M. , Lambert M. , Mitchell G. , Boisvert J. 
Published: March 2007

AbstractDuring a follow‐up study of 19 790 pregnancies at risk for a genetic disease, from 1968 to 1989, 1083 fetuses were found to have an anomaly during the second trimester, leading to 977 terminations of pregnancy. Neural tube defects (31.4 per cent), chromosomal disorders (27.1 per cent), and Mendelian or multifactorial diseases (10.6 per cent) were the main causes of fetal anomaly. More than half (52.9 per cent) of the fetal anomalies were detected by routine ultrasound examination. Forty‐two per cent of cystic hygromas were secondary to a chromosomal defect. We stress the importance of a comprehensive fetal and newborn examination to ensure an accurate diagnosis so that subsequently accurate counselling can be provided.
Incidence of abortion after genetic amniocentesis in twin pregnancies
Authors: Pruggmayer M. , Baumann P. , Schütte H. , Osmers R. , Bartels I. , Jovanovich V. , Rauskolb R. 
Published: March 2007

AbstractFetal outcome after genetic amniocentesis (AC) in viable twin pregnancies was analysed in a retrospective study at three centres in order to estimate the rate of fetal loss after AC. The maternal age ranged from 33 to 45 years (mean 36.7 years). The gestational age varied between 15 and 20 weeks of gestation (mean 17.1). In 98 viable twin pregnancies with complete follow‐up, spontaneous abortion of both fetuses occurred within 28 completed weeks of gestation in eight pregnancies and six women aborted within 20 completed weeks of gestation after AC, corresponding to a rate of fetal loss of 8.1 and 6.1 per cent, respectively (excluding the loss of five twins with viable outcome of the co‐twin in five pregnancies).
Vitamins, folic acid and neural tube defects: Comments on investigations in the United States
Authors: Simpson Joe Leigh , Mills James L. , Rhoads George G. , Cunningham George C. , Hoffman Howard J. , Conley Mary R. 
Published: March 2007

AbstractNo clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy‐makers face difficulties in applying results of recurrence or occurrence studies in high‐risk areas to low‐risk areas in the U.S.
Diagnosis of polyhydramnios in early gestation: Indication for prenatal diagnosis?
Authors: Hendricks Susan K. , Conway Lael , Wang Keith , Komarniski Cathy , Mack Lawrence A. , Cyr Dale , Uhrich Stefanie 
Published: March 2007

AbstractPreviously published reports have indicated that idiopathic polyhydramnios may be associated with trisomies 18 and 21 and that chromosomal analysis is indicated. Furthermore, the natural history and fetal outcome of polyhydramnios diagnosed in early gestation have not been well delineated.We identified 138 pregnancies with polyhydramnios prior to 26 weeks' gestation. Of 131 complete cases, 21 were diagnosed as severe, 18 as moderate, and 92 as mild polyhydramnios. Congenital abnormalities were noted in 18 of 21 severe cases (86 per cent). Two of the remaining three cases were twin‐to‐twin transfusion. Thirteen of 18 cases with moderate polyhydramnios (72 per cent) were associated with anomalies; six of the remaining cases were twin‐to‐twin transfusion. Sixteen of 92 cases of mild polyhydramnios (17 per cent) were associated with congenital abnormalities.In 69 of 76 cases of mild hydramnios not associated with anomalies (91 per cent), the hydramnios resolved prior to delivery. Only 2 of 16 (13 per cent) associated with anomalies resolved. In 4 of 5 cases (80 per cent) with moderate hydramnios and no anomalies, the amniotic fluid volume was normal on subsequent ultrasound. No case of moderate polyhydramnios associated with anomalies or maternal conditions nor any case of severe polyhydramnios resolved.There were seven cases of chromosomal abnormalities in this series; all were associated with sonographic findings in addition to the presence of polyhydramnios. On the basis of these data, we doubt the benefit of amniocentesis following the early diagnosis of idiopathic polyhydramnios in the absence of other ultrasound findings.
Ultrasound diagnosis of fetal abnormalities and cytogenetic evaluation
Authors: van Zalen‐Sprock M. M. , van Vugt J. M. G. , Karsdorp V. H. M. , Maas R. , van Geijn H. P. 
Published: March 2007

AbstractOver a 65½ year period, in 288 pregnancies a variety of fetal malformations were detected by ultrasound. Two hundred and ten fetuses (73 per cent) were karyotyped. Gestational age at detection ranged from 11 to 38 weeks. The incidence of an abnormal karyotype in the total series was 14 per cent and 14.7 per cent in the 210 pregnancies in which a karyotype was performed. Single structural anomalies were found in 149 cytogenetically investigated fetuses, of which 25 had a chromosomal abnormality (17 per cent). Multiple structural malformations were present in 61 fetuses, of which 16 had an abnormal karyotype (26 per cent). Trisomy 18 was the most frequent finding. The most constant ultrasound finding in cases of an abnormal karyotype was polyhydramnios and severe IUGR in combination with structural defects. There is a need for extensive detailed ultrasound examination in high‐risk pregnancies.
Ethical and legal implications in IVF and prenatal diagnosis in the U.K.
Authors: Ferguson‐Smith Marie E. 
Published: March 2007

AbstractThe natural desire for couples to be parents and the medical practitioner's inability to treat most genetic diseases have been responsible for some of the most exciting research into infertility and genetic disorders. This has led in the United Kingdom to the establishment of the Warnock Committee of Inquiry into Human Fertilization and its report in 1984, and to a Review of the guidance on Research Use of Fetuses and Fetal Material published in 1989 and known as the Polkinghorne Report. The Warnock Report, among other ethical issues, considers the most fundamental question which has been debated for thousands of years, namely, What is life and when does it begin? More recently, the report has been responsible for new legislation which imposes ethical and legal restrictions on the scientific and medical community. The Polkinghorne Report recommends a voluntary code of practice which is morally and ethically acceptable within our society. We are also fortunate in the U.K. to have a parliamentary structure which allows debate on such important human issues and is prepared to impose ethical restrictions.
The vanishing twin: An explanation for discordance between chorionic villus karyotype and fetal phenotype
Authors: Reddy K. S. , Petersen M. B. , Antonarakis S. E. , Blakemore K. J. 
Published: March 2007

AbstractOne ‘erroneous’ diagnosis occurred in 200 first‐trimester chorionic villus samples (CVS) analysed. In direct preparations following 24 h incubation as well as in long‐term cultures, a 46.XX karyotype was observed in the villi (28 and 25 cells, respectively). At 20 weeks of gestation, labour was induced because of fetal death in utero. An autopsy performed on the fetus revealed a male phenotype. Placenta and fetal tissues were not submitted for cytogenetic studies. The discordant CVS karyotype (46,XX), in view of the male fetal phenotype, prompted further cytogenetic and molecular studies. Chromosome marker studies on the parents' blood and chorionic villi confirmed both maternal and paternal inheritance of chromosomes in the CVS. DNA studies on formalin‐fixed skin using a Y‐specific probe, DYZ1, confirmed the presence of a Y chromosome in the fetus. The most likely cause of the discrepant CVS karyotype is the presence of an undetected degenerating dizygotic twin.
Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases
Authors: Kamoun P. P. , Chadefaux B. 
Published: March 2007

AbstractWe report the results of 23 prenatal diagnoses performed at the 11th or 12th week of gestation by the simultaneous analysis of chorionic villi (for direct or indirect enzymatic analysis) and cell‐free amniotic fluid (for search of accumulated catabolites). For six cases of citrullinaemia, four cases of argininosuccinic aciduria, seven cases of propionic acidaemia, and six cases of methylrnalonic acidaemia, three discrepancies were observed between the two methods used. The amniotic fluid analysis for accumulated catabolites seems to be a safe method and should always be used in conjunction with the enzymatic assays performed for the prenatal diagnosis of these diseases.
Heterochromatin decondensation in chromosomes from chorionic villus samples
Authors: Pérez M. M. , Míguez L. , Fuster C. , Miró R. , Genescà A. , Egozcue J. 
Published: March 2007

AbstractThe spontaneous decondensation of constitutive heterochromatic regions of chromosomes 1, 9, 16, and Y has been observed in 46.6 per cent of chorionic villus samples. This type of decondensation is occasionally observed in amniotic fluid cells (9 per cent) and has never been found in fetal lymphocytes. The phenomenon is similar to that described in spermatogonial metaphases, in primary and secondary spermatocytes and in human sperm chromosomes, although decondensation of the heterochromatin of chromosome 15 has never been recorded in chorionic villus samples.
Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission
Authors: Phillips Owen P. , Shulman Lee P. , Altieri Lisa A. , Wilroy R. Sidney , Emerson Donald S. , Dacus John V. , Elias Sherman 
Published: March 2007

AbstractA 21 ‐year‐old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non‐contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.