bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis and perinatal management of a fetal ovarian cyst
Authors: Holzgreve Wolfgang , Winde Bernd , Willital G. H. , Beller Fritz K. 
Published: March 2007

AbstractA case of a prenatally diagnosed fetal ovarian cyst is presented. The pregnancy was complicated only by polyhydramnios, and some degree of fetal bowel obstruction could be recognized on sonogram.The newborn was delivered vaginally in the 39th week of pregnancy, and the cyst was removed by laparotomy on the day of the delivery.The etiology of this rare fetal condition is unknown.
Further examples of trisomy‐20 mosaicism in amniotic cell cultures
Authors: Grewal M. S. , Ridler M. A. C. , Barber J. C. K. 
Published: March 2007

AbstractAmniotic fluid cultures from two patients showed trisomy‐20 mosaicism. No trisomy‐20 cells were found in a normal full term infant and in multiple tissue biopsies and fetal blood from a fetus after a termination of pregnancy. No definitive advice is yet possible for parents where trisomy‐20 amniotic cell mosaicism is detected. Fetoscopy and fetal blood sampling are of no value and termination of pregnancy is not indicated by empirical evidence. Preferential trophoblastic non‐disjunction (Kalousek and Dill, 1983) is discussed as a possible partial explanation for the variable occurrence and distribution of this type of mosaicism.
Testosterone levels in midtrimester maternal and fetal plasma and amniotic fluid
Authors: Rodeck C. H. , Gill D. , Rosenberg D. A. , Collins W. P. 
Published: March 2007

AbstractTestosterone was measured in maternal plasma (58 samples), amniotic fluid (71 samples) and fetal plasma (55 samples) in 79 patients between 15 and 23 weeks' gestation. Maternal plasma testosterone levels were unrelated to fetal sex. Amniotic fluid testosterone was significantly higher in male than female fetuses but did not reliably predict fetal sex. A correct diagnosis of fetal sex was made by testosterone assay of pure fetal plasma in 39 out of 40 males and in 15 out of 15 females using 1.70 nmol/1 as the cut‐off value. This investigation is not the method of choice for routine fetal sexing but may be of value in fetuses suspected of having certain endocrine disorders.
Third trimester ultrasound diagnosis of intestinal atresia following clinical evidence of polyhydramnios
Authors: Filkins Karen , Russo Joseph , Flowers William 
Published: March 2007

AbstractFive cases of intestinal atresia were diagnosed using real‐time ultrasonography following clinical evidence of polyhydramnios. No correlation was noted between ultrasound findings and the severity of the lesions. Two of the five babies died at 35 and 77 days respectively. Prematurity and presence of other abnormalities were factors in the deaths.
Cystic hygroma: Prenatal diagnosis and genetic counselling
Authors: Marchese C. , Savin E. , Dragone E. , Carozzi F. , De Marchi M. , Campogrande M. , Dolfin G. C. , Pagliano G. , Viora E. , Carbonara A. 
Published: March 2007

AbstractSix cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.
Prenatal diagnosis of the fragile‐X in male monozygotic twins: Discordant expression of the fragile site in amniocytes
Authors: Rocchi M. , Pecile V. , Archidiacono N. , Monni G. , Dumez Y. , Filippi G. 
Published: March 2007

AbstractA prenatal diagnosis of the fragile‐X syndrome in monozygotic male twins is reported. The expression of the fragile site was discordant in amniotic cells. Fetal blood and, after therapeutic abortion, skin fibroblasts were positive in both fetuses. Our data suggest that great care should be taken when using amniocytes for prenatal diagnosis of the fragile‐X syndrome.
Sonographic demonstration of fetal sacrococcygeal teratoma
Authors: Holzgreve Wolfgang , Mahony Barry S. , Glick Philip L. , Filly Roy A. , Harrison Michael R. , Delorimier Alfred A. , Holzgreve Alfred C. , Muller Klaus M. , Callen Peter W. , Anderson Robert L. , Golbus Mitchell S. 
Published: March 2007

AbstractSix cases of sonographically diagnosed fetal sacrococcygeal teratoma (SCT) are presented and illustrate the variable features of fetal SCT. The sonographic findings assisted the parents and perinatal team in making decisions, and in two of the cases the children survived after elective Cesarean section and prompt neonatal resection of the tumors. None of the patients showed signs of malignant degeneration of the teratoma or metastases. Fetal SCT no longer should be considered a uniformly fatal condition. The literature on sacrococcygeal teratoma detected after birth indicates that the mortality rate is correlated with the degree of extension of the tumor. Therefore, the classification of sonographically diagnosed fetal SCT according to its size and position is important for decisions regarding pregnancy management.
The fetal behavioural states: An ultrasonic study
Authors: Arduini D. , Rizzo G. , Giorlandino C. , Vizzone A. , Nava S. , Dell'Acqua S. , Valensise H. , Romanini C. 
Published: March 2007

AbstractIn order to accurately detect the fetal behavioural state, we simultaneously measured fetal heart rate and multiple fetal activities in 27 healthy pregnant women at 38 to 40 weeks of gestation.We ultrasonically identified gross body movements, breathing movements and micturition. Analysis of fetal heart rate allowed us to distinguish two different patterns of fetal behaviour: active and quiet phases. The frequency distribution of the analysed fetal events was significantly different in these two phases. These data suggest that a complete biophysical profile of the fetus is effective in differentiating behavioural states and may improve the predictive accuracy of fetal heart rate analysis alone.
Direct fetal chromosome studies from chorionic villi
Authors: Flori E. , Nisand I. , Flori J. , Dellenbach P. , Ruch J. V. 
Published: March 2007

AbstractAn easy and reproducible technique for direct fetal chromosome analysis after chorionic biopsy is described. Very high colchicine concentration and rehydratation of the fixed villi are the two original points of this method.
High resolution chromosomes from first trimester trophoblast cultures
Authors: Søndergaard Finn , Kristensen Merete , Tommerup Niels 
Published: March 2007

AbstractA simple method for obtaining prometaphase chromosomes from cultured first trimester cells involves the addition of BrdU and FdU 11 h before harvest and ethidium bromide 1.5 h before harvest. High resolution R‐banding is obtained by acridine orange staining.
Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi
Authors: Christensen E. , Brandt N. J. , Philip J. , Bang J. 
Published: March 2007

AbstractCitrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non‐citrullinaemic boy.
Spontaneous abortion after amniocentesis in women with a history of spontaneous abortion
Authors: Esrig Stella M. , Leonardi Donna E. 
Published: March 2007

AbstractThe incidence of spontaneous abortion after amniocentesis (19 to 28 weeks gestation) in women who have had previous spontaneous abortions is compared with the rate in women who have not had previous spontaneous abortions. The outcome of the pregnancy after amniocentesis and the previous history of spontaneous abortion is reported for 691 pregnancies. The rate of spontaneous abortion after amniocentesis was found to be significantly higher in women who had one or more previous spontaneous abortions, 12/238 (5 per cent), than in women who did not, 6/453 (1.3 per cent). In women who reported two or more previous spontaneous abortions, the rate was 7/81 (8.6 per cent). No statistically significant effect of maternal age or gravidity was detected. The incidence of spontaneous abortion after amniocentesis was greater in the three weeks following the procedure (three for each of the three weeks) than in the subsequent seven weeks (nine for seven weeks).
Distinguishing hygroma and amniotic fluid
Authors: Brock David J. H. , Barron Lilias , Bedgood David , Rodeck Charles 
Published: March 2007

AbstractFluid from cystic hygromata can be distinguished from amniotic fluid by measurement of alkaline phosphatase (ALP) isoenzymes. The former has a serum‐type ALP, made up largely of the liver/bone/kidney isoenzyme and virtually no intestinal isoenzyme. Second trimester amniotic fluid ALP contains approximately 80 per cent intestinal isoenzyme.
Prenatal diagnosis by chorionic villus sampling: Lessons of the first 600 cases
Authors: Hogge W. A. , Schonberg S. A. , Golbus M. S. 
Published: March 2007

AbstractChorionic villus sampling (CVS) has emerged as a first trimester alternative to amniocentesis for the prenatal detection of genetic disorders. We report our experience in 600 consecutive CVS procedures to better delineate the safety, efficacy and reliability of this new method of prenatal diagnosis. Adequate samples were obtained at the initial visit in 97 per cent of the cases, and successful cultures were established in 98.7 per cent of these patients. Chromosome abnormalities were detected in 5.9 per cent of those pregnancies tested because of advanced maternal age (≥ 35 years). A discrepancy between the villus karyotype and that of the fetus was found in 2.0 per cent of cases, and most commonly consisted of mosaicism in the villus sample for a chromosomal abnormality that was not found in fetal samples. The risk of spontaneous abortion following the procedure was 6.3 per cent. We conclude that chorionic villus sampling is an acceptably safe and reliable procedure, but further investigation is needed before it can become an established technique in prenatal diagnosis.
Prenatal diagnosis of Mohr syndrome by ultrasonography
Authors: Iaccarino M. , Lonardo F. , Giugliano M. , Della Bruna Mimma 
Published: March 2007

AbstractA case of prenatal diagnosis of Mohr syndrome is presented. The ultrasound examination was indicated by the previous birth of an affected brother. The need for genetic counselling is stressed, when polydactyly is observed accidentally at ultrasound examination during pregnancy.
The use of amniotic FSH levels in resolving a discrepancy between fetal chromosomal and phenotypic sex
Authors: Dalprà L. , Castagni M. , Nocera G. , Tibiletti M. G. , Riboni G. , Agosti S. 
Published: March 2007

AbstractWe report a case in which a discrepancy emerged between the prenatal diagnosis of female chromosomal sex and male sex at ultrasound examination. The FSH dosage performed on an amniotic fluid sample previously stored confirmed the male phenotype of the fetus. The effectiveness of the AF‐FSH level dosage in prenatal diagnosis was taken into consideration.
The impact of prenatal diagnosis on the occurrence of chromosome abnormalities
Authors: Bell Judith , Hilden Jørgen , Bowling Francis , Pearn John , Brownlea Arthur , Martina Nicole 
Published: March 2007

AbstractFrom the public health point of view, several formal attempts have been made to measure the impact of prenatal diagnosis (PND) on the incidence of Down's Syndrome (DS), but the results have varied widely. The impact of PND (reduction in the birth rate of chromosomally abnormal neonates) is related to utilization rates but quantitative estimates of this have not been established. In a three‐year (1981–1983) total population study from Queensland, Australia, we present results to measure the impact of a voluntary PND programme on the birth incidence of DS, and also other chromosomally abnormal births. Utilization rates for the PND service were 15·5 per cent in that population of mothers 35 years and over. Numbers and rates of all cases of chromosomal abnormalities are presented, subclassified by type of diagnosis–‐either by PND or by clinical diagnosis after birth. For the total population, 7·3 per cent of cases of DS were detected prenatally, and 15·4 per cent of all chromosome abnormalities. (A method for measuring the impact of PND is described.) Using this in conjunction with our demographic data, we estimate that with a 15 per cent utilization rate of PND by older mothers, 14 per cent of DS births can be prevented in this age group, or a 5 per cent overall reduction can be achieved if mothers of all ages are considered. One index–‐the ratio of the percentage of DS births which are preventable compared with the population utilization rates of PND–‐has potential for widespread use. Queensland data for this ratio is 0·34, a figure consistent with that from other studies. Thus a 3·5 per cent drop in the overall DS birth rate may be expected for each 10 per cent increase in the utilization rates of PND for mothers of 35 years and over. A diagram is presented which may serve as a model for improved data collection and better impact estimates in the future.
Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin
Authors: Dale Beverly A. , Perry Tracy B. , Holbrook Karen A. , Hamilton Emily F. , Senikas Vyta 
Published: March 2007

AbstractThis paper describes a method for biochemical analysis of proteins from fetal skin biopsy samples. The method has wide potential application for diagnosis of disorders with a known protein abnormality detectable by protein staining or a specific antibody. Analysis requires a single 1 mm biopsy, is rapid (2 days) and extremely sensitive. In the present study, fetal skin biopsies from normal fetuses and a fetus at risk for lamellar ichthyosis were obtained. The epidermis or hairs with attached follicular cells were dissected from the remaining skin. Proteins were extracted and separated by SDS‐polyacrylamide gel electrophoresis. Proteins from duplicate gels were transferred to nitrocellulose and immunostained for the acidic and basic keratins and for the keratin filament associated protein, filaggrin, using monoclonal antibodies. All samples contained keratins typical of fetal epidermis at 20 weeks gestation. Presence of filaggrin is variable at this age and depends on the presence of keratinized cells of hair canals. No keratin abnormalities in the fetus at risk for lamellar ichthyosis were detected, however, in one presumably normal biopsy, an abnormally low proportion of the 67 kd keratin and the presence of follicular keratins were evident. These results demonstrate that biochemical analysis of fetal biopsies is possible, thus increasing the diagnostic potential of the fetal biopsy procedure for disorders in which a known protein or antigen is altered in utero.
Justification of maternal serum alphafetoprotein screening in a population with low incidence of neural tube defects
Authors: Ghosh A. , Tang M. H. Y. , Nie D. Taig. , Ma H. K. 
Published: March 2007

AbstractA prospective study of maternal serum alphafetoprotein (α‐FP) screening of 9838 women in an area with low prevalence of neural tube defects and predominance of anencephalics revealed that an intervention point of single serum α‐FP level above 2·8 times the median was appropriate for this population. Ninety per cent of anencephalics and all fetuses with anterior abdominal wall defects were detected. There was no spina bifida among the population screened. Two per cent of the population screened had serum α‐FP level above this cut‐off level. Thirty‐two per cent of twin pregnancies, 7 per cent of small‐for‐gestational age infants and 9 per cent of pregnancies which ended in either abortion or perinatal death in the population screened also had one serum α‐FP level above this intervention point. The false positive rate was 66 per cent. This false positive rate was only reduced to 63 per cent if instead of one, two serum α‐FP level above this intervention point was considered abnormal. Using this strategy there was no significant reduction in the detection rate of fetal anomalies and other pregnancy complications.Because of the predominance of anencephalics in this population the diagnosis of fetal anomaly in women with abnormal serum a‐FP level was made by ultrasound examination alone. The reason amniocentesis was not performed in these patients was to avoid unnecessary loss of normal pregnancies which may result from this procedure.
First‐trimester prenatal diagnosis of severe alpha‐thalassemia
Authors: Liming Wang , Junwu Zhang , Guanyun Wu , Shenwu Wang , Yu Fan , Youwen Huang , Letian Zhao , Rongxin Wang , Jidong Su , Nijia Zhang , Guifang Long , Peng Li Qi, Zou , Rong Liang , Xu Liang 
Published: March 2007

AbstractBy means of chorion biopsy together with restriction endonuclease analysis of fetal DNA, first trimester diagnoses were successfully made in 33 fetuses at risk for Bart's hydrops fetalis. Seven pregnancies with Hb H or hydrops fetalis were therapeutically terminated before 4 months of gestation. Of the 26 pregnancies intended to continue, 18 have come to term with normal deliveries; one with threatened abortion was terminated at the end of the first trimester and, seven are progresssing normally.
Prenatal treatment of fetal hydrops associated with the hypertelorism‐dysphagia syndrome (opitz‐g syndrome)
Authors: Patton M. A. , Baraitser M. , Nickolaides K. , Rodeck C. H. , Gamsu H. 
Published: March 2007

AbstractNon‐immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorismdysphagia syndrome (or Opitz‐G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz‐G syndrome.
Cultured amniotic fluid cells for prenatal diagnosis of lysosomal storage disorders: A methodological study
Authors: Arnon Judith , Ornoy Asher , Bach Gideon 
Published: March 2007

AbstractThe influence of culture conditions on the ultrastructure and enzyme activities of amniotic fluid cells are reported. Morphological changes were determined as a function of the number of lysosomal‐like inclusion bodies per cell, and these results correlated to the activity of Thiexosaminidase, a‐mannosidase, β‐glucuronidase, arylsulphatase C and 5′ nucleotidase. The parameters examined were pH of the culture media, type of media, increasing cell passage and day of harvest.Our results indicate that enzyme activities are less sensitive to changes in culture conditions as compared to ultrastructural changes. We therefore recommend that in order to obtain reliable ultrastructural results for the diagnosis of storage disorders, cultures should be grown in MEM as the culture medium, the pH of the medium carefully monitored to remain below pH 7·4, examining the cultures no later than the eighth cell passage and no later than the 10th day after subculture.
Rare chromosome 20 variants encountered during prenatal diagnosis
Authors: Petersen Michael B. 
Published: March 2007

AbstractA case with an uncommon heteromorphism in the centromeric region of chromosome 20, var (20) (cen, CBG 50), and a family with a pericentric inversion of chromosome 20, inv (20) (p11.23q11.21), are reported, both detected in amniotic fluid cell cultures. It appears that small pericentric inversions of chromosome 20 have a low risk of recombination.
Admixture of maternal metaphases in first trimester direct chromosome preparations?
Authors: Jensen P. K. A. , Hertz J. M. , Therkelsen A. J. 
Published: March 2007

AbstractThe autoradiographic labelling of different cell types in chorionic villi and decidual tissue was investigated after [3H]‐thymidine incorporation in vitro. Although the extent of labelling was found to be lower in decidual than in villus tissue the possibility that direct chromosome preparations may contain maternal metaphases should be considered. The need for careful selection of villi for direct cytogenetic analysis was stressed.
Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N‐acetylglucosaminyl‐oligosaccharides in amniotic fluid with high‐performance liquid chromatography
Authors: Warner Thomas G. , Wilson Turner M. , Toone Jennifer R. , Applegarth Derek 
Published: March 2007

AbstractPrenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N‐acetylglucosaminyl‐oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli‐gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.
A pipette method for rapid karyotyping in prenatal diagnosis
Authors: Claussen Uwe , Klein Renate , Schmidt Marianne 
Published: March 2007

AbstractThe 'pipette method' is introduced as a method of prenatal diagnosis which is in competition with the 'in situ' and the 'trypsinization' technique. It is sufficiently standardized for routine diagnosis and the banding techniques currently used in prenatal diagnosis (G, Q, C‐banding and NOR) have been adapted for it.In 180 cases from 27 different centres, the 'pipette method' was employed for chromosomal harvesting in order to save time. An average of 6·6 days was taken to achieve a result. There was a pathological karyotype in 28 cases (16·1 per cent) and this high proportion can be related to cases where ultrasound scan has led to a diagnosis of 'suspected chromosomal abnormality'. This technique is also of use in advanced stages of pregnancy. The early recognition of the fetal karyotype can contribute to the future management of the pregnancy.The 'pipette method' can also be used in chromosomal harvesting of tumour cells and fibroblast cultures.