bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diastrophic dysplasia: A specific prenatal diagnosis by ultrasound
Authors: Gembruch U. , Niesen M. , Kehrberg H. , Hansmann M. 
Published: March 2007

AbstractIn a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnoses of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs (‘hitchhiker thumbs’) and big toes.
Umbilical cord pseudocyst in trisomy 18
Authors: Jauniaux Eric , Donner Catherine , Thomas Christine , Francotte Jacques , Rodesch Frédéric , Avni Freddy E. 
Published: March 2007

AbstractPrenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishing the karyotype in fetuses with such umbilical cord anomalies and the importance of careful examination of placentas and infants born with such defects.
Prenatal diagnosis of rhizomelic chondrodysplasia punctata
Authors: Hoefler S. , Hoefler G. , Moser A. B. , Watkins P. A. , Chen W. W. , Moser H. W. 
Published: March 2007

AbstractPlasmalogen biosynthesis and phytanic acid oxidation activity were measured in cultured chorionic villus samples or amniocytes from four pregnancies at risk for the rhizomelic form of chondrodysplasia punctata (RCDP). Normal results were obtained in three of the samples and post‐natal examination or fetal ultrasound studies confirmed that the fetuses were unaffected. Chorionic villus culture in one case demonstrated defective plasmalogen biosynthesis and lack of phytanic acid oxidation. Pregnancy was interrupted at 10 weeks. Immunoblot studies of post‐mortem fetal tissues showed thatperoxisomal 3‐oxoacyl‐coenzyme A thiolase was present in the unprocessed form, a finding we had previously demonstrated in RCDP. These results establish that RCDP can be identified prenatally.
Transabdominal chorionic villus sampling. Clinical experience of 1159 cases
Authors: Brambati B. , Lanzani A. , Oldrini A. 
Published: March 2007

AbstractThe efficacy and risks of transabdominal free‐hand ultrasound‐guided fine needle aspiration technique were evaluated in 1159 pregnancies submitted to chorionic villus sampling (CVS) in the first trimester and early in the second trimester. An adequate amount of chorionic tissue was obtained by two needle insertions in 99·7 per cent of cases, and a second tapping was needed in 3·5 per cent of cases. A local peritoneal reaction was the only early complication clearly related to the procedure, and it occurred in 0·3 per pent of cases without any adverse effect on the maternal and fetal outcome. The correct abortion rate in 716 consecutive concluded pregnancies was 2·4 per cent, while the rate of late obstetrical complications and perinatal mortality and morbidity compares favourably with the rates in the general population. Because of its simplicity and practicability, transabdominal aspiration is the procedure of choice and is especially recommended fonintensive CVS routine conditions.
First‐trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes
Authors: Curtis Ann , Strain Lisa , Mennie Moira , Holloway Susan , Raeburn J. A. , Besley G. T. N. , Brock D. J. H. 
Published: March 2007

AbstractFirst‐trimester prenatal diagnosis of cystic fibrosis (CF) using linked DNA markers is usually only possible if there is an index affected child to establish the haplotype of the parental chromosomes. We describe a prenatal diagnosis where fibroblasts, cultured from the skin of a deceased affected child and then held in frozen storage for 3 years, were used as the starting point for tracking the CF gene. The fetus was diagnosed as a homozygous normal and the diagnosis confirmed by immunoreactive trypsin testing after birth. It was also possible to establish heterozygosity in the aunt of the affected child.
The application of automated metaphase scanning to direct preparations of chorionic villi
Authors: Zahed L. , Murer‐Orlando M. , Bobrow M. 
Published: March 2007

AbstractIn order to increase the speed of analysis of metaphases from chorionic villi direct preparations, we have investigated the use of two automatic scanning devices, the Magiscan II and a version of Metafip (the research laboratory precursor of Cytoscan). The speed, efficiency, and ranking system have been compared to manual scanning. Results show that both machines detect approximately 80 per cent of the total analysable metaphases detected by a trained cytogeneticist. There appears to be reasonable agreement in ranking between methods.
Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update
Authors: Hsu Lillian Y. F. 
Published: March 2007

AbstractA total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89·4 percent) were reported to be associated with a grossly normal male phenotype. Three cases (6·4 percent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70·O per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long‐term follow‐up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.
Synchronization of amniotic fluid cells for high resolution cytogenetics
Authors: Qu JY. , Dallaire L. , Lemieux N. , Drouin R. , Richer C. L. 
Published: March 2007

AbstractA high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5‐bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for another 6 1/2–7 h, then harvested in prometaphase without colcemid. This technique gives a mitotic index of 3·7 per cent after thymidine synchronization and of 3·2 per cent after BrdU synchronization, and more than half of the mitoses were in the earlier phases with the chromosomes showing more than 550 bands per haploid set. GBG, GTG, and RHG prometaphases are presented. Precise high‐resolution banding of chromosomes of amniotic fluid cells can increase diagnostic accuracy.
Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y
Authors: Alliet J. , Leporrier N. , Lebris C. , Gourdier D. 
Published: March 2007

AbstractA case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy.
Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at‐risk case
Authors: Pachì A. , Giancotti A. , Torcia F. , de Prosperi V. , Maggi E. 
Published: March 2007

AbstractA case of early diagnosis at 13 weeks' gestational age of Meckel–Gruber syndrome by ultrasound is reported in a patient with a 25 percent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.
Normal ranges of the activities of ten different enzymes in 100 independent preparations of chorionic villi. Comparison of specimens from induced abortions, biopsies, and cultured cells
Authors: Burgemeister Renate , Gutensohn Wolf 
Published: March 2007

AbstractIn order to obtain a large set of normal control values, the activities of three cytosolic enzymes of purine metabolism and seven lysosomal enzymes were determined in homogenates of chorionic villi derived from induced abortions of normal pregnancies (7th–12th week) in about 100 individual cases. Possible reasons for the rather wide ranges of normal distributions of enzyme activities are discussed. The values are compared: (1) with available data in the literature; (2) with activities determined in decidual homogenates prepared from the same samples; (3) with activities of cells of cultures established and grown from villi in the same samples; and (4) with enzyme activities measured in chorionic biopsies using the same methods. Implications for the prenatal diagnosis of the associated metabolic diseases are considered.
Differentiation in human chorionic villus cultures: hCG and hla expression
Authors: Phillips C. N. , McCue P. A. , Whitsett C. F. , Priest J. H. 
Published: March 2007

AbstractThe present report describes methods to separate, culture, and study syncytio‐cytotrophoblast and mesenchymal core of the first‐trimester human chorionic villus. The cultured outer layer cells (syncytio‐cytotrophoblast) are multinucleated, pleomorphic, and active in the formation of human chorionic gonadotrophin (hCG). The mesenchymal core cells are more fibroblast‐like in appearance, do not show multinucleation, and have less hCG in their culture media. Both cultured cell types express HLA (ABC) Class I histocompatibility antigens but not HLA (DR) Class II antigens.These and previous studies from this laboratory postulate different embryonic origins: (1) Syncytio‐cytotrophoblast cultures of chorionic villus derive from differentiated trophoblast and preserve multinucleation as well as hCG hormone function. (2) Cells cultured from the chorionic villus core originate from extraembryonic mesenchyme. (3) Amniocytes (AF cells) cultured from amniotic fluid resemble the multipotential and early‐stage trophoblast, retaining pleomorphism, multinucleation, and lacunae formation as well as production of hCG, progesterone, oestrogen, basement membrane glycoprotein, and Type IV collagen. These cell types cultured from the chorionic villus and amniotic fluid provide a means for in vitro study of specific embryonic cell lineages.
Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment
Authors: Eydoux P. , Choiset A. , le Porrier N. , Thépot F. , Szpiro‐Tapia S. , Alliet J. , Ramond S. , Viel J. F. , Gautier E. , Morichon N. , Girard‐Orgeolet S. 
Published: March 2007

AbstractNine hundred and thirty‐six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of maternal age.Frequencies of chromosomal aberrations in each case were respectively 4·4, 6·7 and 15·8 per cent, compared with 3·18 per cent when the fetal karyotype was performed because of maternal age. High rates of chromosomal aberrations are observed in cases of cervical hygroma, limb abnormalities, omphaloceles, duodenal stenosis, hydrocephalus, and facial abnormalities. In the case of polymalformations, this rate was 29·2 per cent. When malformations were seen together with an amniotic fluid disorder or growth retardation, 21·5 per cent chromosomal aberrations were observed. This frequency was 10·4 per cent when growth retardation was associated with an amniotic fluid disorder.Trisomy 13, 18, 21 and monosomy X accounted for 4/5 of all abnormalities in which we observed a high rate of triploidies (4·9 per cent) and balanced (3·3 per cent) or unbalanced (9·8 per cent) non‐Robertsonian structural abnormalities. Sonographic ascertainment of these aberrations and prenatal characteristics of major anomalies are discussed.
Fetal liver alanine: Glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1
Authors: Danpure Christopher J. , Jennings Patricia R. , Penketh Richard J. , Wise Pauline J. , Cooper Penelope J. , Rodeck Charles H. 
Published: March 2007

AbstractPrimary hyperoxaluria type 1 (PH1) is caused by a deficiency of the hepatic peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT, EC 2.6.1.44) (Danpure and Jennings, FEBS Lett., 201, 20–24, 1986). The activity of AGT has been measured in fetal livers of gestational age 14–21 weeks. Activity increases up to 17 weeks and then levels off between 17 and 21 weeks. At this time, the mean AGT activity is about 30 per cent of the mean normal postnatal level. As in adult liver, the AGT enzyme activity and the AGT immunoreactive protein are peroxisomal. Prenatal diagnosis has been performed by measuring AGT enzyme activity and immunoreactive AGT protein on liver biopsies from two fetuses at risk for primary hyperoxaluria type 1. One was unaffected and one was affected.
Prenatal diagnosis of a fetus with an extra idic(X) (q27)
Authors: Dallapiccola Bruno , Ferranti Giovanna , Prima Lucia 
Published: March 2007

AbstractA fetus with an extra idic(X) (q27) was ascertained during prenatal diagnosis. The derived X and one normal X chromosome were late replicating. Due to lack of previous experience, genetic counselling presented obvious difficulties and the fetal phenotype could be only tentatively predicted.
Usefulness of linkage disequilibrium of KM‐19 and XV‐2c DNA probes for genetic counselling in a high‐risk cf family
Authors: Chomel J. C. , Haliassos A. , Tesson L. , Mathieu M. , Kaplan J. C. , Kitzis A. 
Published: March 2007

AbstractA French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV‐2c and KM‐19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600.
Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic, monozygotic co‐twin
Authors: Donnenfeld Alan E. , Glazerman Larry R. , Cutillo Denise M. , Librizzi Ronald J. , Weiner Stuart 
Published: March 2007

AbstractSelective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography.
Practical experience using transabdominal chorionic villus biopsies taken after 16 weeks' gestation for rapid prenatal diagnosis of chromosomal abnormalities
Authors: Wolstenholme J. , Hoogwerf A. M. , Sheridan H. , Maher E. J. , Little D. J. 
Published: March 2007

AbstractPlacental biopsy was performed on 81 patients at greater than 16 weeks' gestation. The major indication for such biopsies was an increased risk of chromosomal abnormality because of either abnormal ultrasound findings or late presentations for advanced maternal age. Six abnormal karyotypes resulting in elective termination were found. The use of rapid karyotyping by this procedure as an alternative to amniocentesis or fetal blood sampling is discussed.
Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS, amnion‐ and placental culture
Authors: Eiben Bernd , Hansen Susanne , Knipping Jutta , Massenberg Regina , Goebel Richard , Hammans Wilhelm 
Published: March 2007

AbstractChorionic villus samples from a healthy pregnant female were obtained for first‐trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY,+mar was found.
Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery
Authors: Herens C. , Pierquin G. , Verloes A. , Schaaps J. P. , Frederic J. 
Published: March 2007

AbstractA 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40‐year‐old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.
Triploidy: Pregnancy complications and clinical findings in seven cases
Authors: Graham John M. , Rawnsley Eileen F. , Simmons G. Millard , Wurster‐Hill Doris H. , Park Jonathan P. , Marin‐Padilla Miguel , Crow Harte C. 
Published: March 2007

AbstractSeven cases of triploidy were encountered by the Prenatal Diagnosis Program at Dartmouth–Hitchcock Medical Center over an 8‐year period through associated pregnancy complications. We describe the characteristic findings that facilitate prenatal diagnosis and management. Our experience includes fetuses with major central nervous system abnormalities (spina bifida aperta, holoprosencephaly) and anterior abdominal wall defects, which are detectable with routine prenatal diagnostic screening examinations (ultrasound and AFP). In addition, we stress the importance of recognizing obstetric complications and associated cystic placental changes, which are quite common among triploid conceptuses. Molar changes associated with triploidy have a more benign prognosis than that associated with diploid moles. Such molar changes may relate to the presence of a diploid paternal chromosome complement. The usefulness of cytofluorometric DNA determinations in helping to confirm a clinical suspicion of triploidy is emphasized. These cases are presented in an effort to facilitate prenatal recognition and management of this common cytogenetic condition and prevent unnecessary Caesarean section deliveries.
Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated?
Authors: Kulkarni R. , Hawkins J. , Bradford W. P. 
Published: March 2007

Abstract45,X/46,XX True mosaicism was found in the amniotic fluid cell culture study in our patient and was confirmed by rapid fetal blood karyotyping. Elective termination of the pregnancy revealed a morphologically normal female fetus with true mosaicism but no features of Turner's syndrome.
A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis
Authors: Juan J. L. Carrasco , Gómez A. Otero , Mesa M. C. Vilar , Miranda J. L. García , Luque J. M. Troyano , Ruiz O. Morales , Hernández J. Parache 
Published: March 2007

AbstractA dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.
Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes
Authors: Raux‐Demay M. , Mornet E. , Boue J. , Couillin P. , Oury J. F. , Ravise N. , Deluchat C. , Boue A. 
Published: March 2007

AbstractThe results of early prenatal diagnoses of congenital adrenal hyperplasia are reported. The determination of 17‐hydroxyprogesterone values in amniotic fluid taken transabdominally at 11 weeks of gestation enabled prenatal diagnosis of congenital adrenal hyperplasia due to 21‐hydroxylase (21‐OH) deficiency. There is a clear‐cut difference between normal and pathological values at that time of pregnancy. This method of diagnosis can be combined with genotyping of the fetus by HLA‐DNA probes on chorionic villus sampling or can be used alone. Prenatal diagnosis with a 21‐OH probe is possible when a preliminary study has demonstrated that the index case is homozygous for the deletion.
Transabdominal chorionic villus sampling in the second trimester of pregnancy: Feto‐maternal transfusions in relation to pregnancy outcome
Authors: Los F. J. , Pijpers L. , Jahoda M. G. J. , Sachs E. S. , Reuss A. , Hagenaars A. M. , Wladimiroff J. W. 
Published: March 2007

AbstractVolumes of feto‐maternal transfusions (FMTs) in transabdominal chorionic villus sampling (TACVS) in the second trimester of pregnancy were calculated from the difference between maternal alpha‐fetoprotein (AFP) concentrations before and 1 h after TACVS. In 50 pregnancies, there existed no correlation between FMT volume and the amount of villi collected or the number of TACVS attempts. The expected risk of fetal exsanguination due to very voluminous FMT could not be substantiated. In one case, immunization could have been the cause of hydrops fetalis, although only a volume of 0.15 ml could be calculated.
First‐trimester prenatal diagnosis of aspartylglucosaminuria
Authors: Aula P. , Mattila K. , Piiroinen O. , Ämmälä P. , von Koskull H. 
Published: March 2007

AbstractFetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at‐risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.