bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay
Authors: He Wang , Voznyi Ya. V. , Huijmans J. G. M. , Geilen G. C. , Karpova E. A. , Dudukina T. V. , Zaremba J. , van Diggelen O. P. , Kleijer W. J. 
Published: March 2007

AbstractA new fluorogenic substrate, 4‐methylumbelliferyl β‐D‐glucosaminide, was used for the assay of acetyl CoA:glucosaminide N‐acetyltransferase in chorionic villi, cultured villus cells, and amniocytes. Optimal conditions for the assay and the ranges of enzyme activity were established for the various types of fetal cells. This simple fluorometric assay provides a reliable method for early prenatal diagnosis of Sanfilippo disease type C which is more convenient than current methods using radiolabelled substrates. The method was applied to amniotic fluid cells and fetal fibroblasts from an at‐risk pregnancy in which an affected fetus was diagnosed by two‐dimensional electrophoresis of glycosaminoglycans in the amniotic fluid.
Prenatal diagnosis of X‐linked hydrocephalus in a Chinese family with four successive affected pregnancies
Authors: Ko Tsang‐Ming , Hwa Hsiao‐Ling , Tseng Li‐Hui , Hsieh Fon‐Jou , Huang Shiu‐Feng , Lee Tzu‐Yao 
Published: March 2007

AbstractWe report on a woman with four successive pregnancies affected with X‐linked hydrocephalus (XLH). The first child had prenatal craniocentesis and died in utero. The second child had a postnatal shunting operation, but suffers from severe growth and mental retardation at 5 years of age. In the third pregnancy, prenatal ultrasound detected hydrocephalus at the 16th and 20th weeks of gestation and the pregnancy was terminated. In the fourth pregnancy, ultrasound scanning at the 17th and 20th weeks of gestation revealed no remarkable findings, but hydrocephalus was detected at the 24th week. Autopsy confirmed the prenatal diagnosis. DNA polymorphism analysis of the Bell site of exons 17–18 of factor VIII gene of the woman and her last two fetuses seemed to be compatible with a linkage between the XLH locus and factor VIII gene. Although XLH has a variable presentation of ventriculomegaly, ultrasound scanning is still a useful tool for prenatal diagnosis at present. Earlier and more accurate prenatal diagnosis will be feasible with molecular analysis of the XLH locus or its flanking regions.
Fluorescence in situ hybridization with a chromosome 21‐specific cosmid contig: 1‐day detection of trisomy 21 in uncultured mesenchymal chorionic villus cells
Authors: Bryndorf Thue , Christensen Britta , Xiang Yang , Philip John , Yokobata Kathy , Bui Nga , Gaiser Candy 
Published: March 2007

AbstractWe present a modified, fast trisomy 21 detection assay using fluorescence in situ hybridization (FISH) on uncultured mesenchymal chorionic villus cells. The whole test takes about 24 h. We used a cosmid contig as a probe and modified an in situ sample preparation method first described by Klinger et al. (1992). The assay saves time and cost of culture in comparison with a previously described trisomy 21 detection FISH assay (Bryndorf et al., 1993). A small blind clinical study comparing the modified and the previously described FISH assays using mesenchymal chorionic villus cells showed comparable results and concordance with conventional cytogenetic analysis. The frequency of nuclei with three hybridization signals from samples disomic for chromosome 21 ranged from 0 to 8 per cent with both assays, while trisomic samples had 60–80 and 54–90 per cent of the mesenchymal nuclei with three signals in the modified and previously described assays, respectively. Normal (disomic) and trisomic mesenchymal chorionic villus samples can be distinguished clearly and rapidly without culture in the modified assay.
Tertiary centre referral of small‐for‐gestational age pregnancies: A 10‐year retrospective analysis
Authors: Heydanus R. , van Splunder I. P. , Wladimiroff J. W. 
Published: March 2007

AbstractBetween 1981 and 1991, 461 pregnant women between 15 and 40 weeks of gestation (mean 30 weeks) with completed follow‐up were referred to our centre for prenatal diagnosis because of a small‐for‐gestational age (SGA) fetus or combined SGA and structural abnormality. The referral diagnosis was based either on biparietal diameter measurements or on measurement of the upper‐abdominal circumference. SGA in our centre was defined as a fetal upper‐abdominal circumference below the tenth centile. SGA was confirmed by ultrasound in 75 per cent of the fetuses, whilst combined SGA and fetal structural abnormality was substantiated in only 16 per cent of the fetuses. However, in our centre structural abnormality was detected in 34 fetuses who were referred because of SGA alone. Nearly half of the structurally normal SGA fetuses displayed a normal head‐to‐abdomen (H/A), ratio, whereas an increased H/A ratio was found in 13/15 fetuses with an abnormal karyotype. An abnormal karyotype was present in 20 fetuses, which is 7 per cent of the total SGA population. Nearly 50 per cent represented triploidy associated with oligohydramnios. SGA was confirmed by a birth weight below the tenth centile in 89 per cent, below the fifth centile in 77 per cent, and below the 2·3rd centile in 55 per cent of infants. Structural abnormality was confirmed in 65 per cent of infants, whereas in 19 per cent of infants the abnormality was missed or a misclassification was made. Perinatal mortality was 31 per cent for all SGA fetuses, 27 per cent for SGA fetuses without anomalies, and 64 per cent for SGA fetuses with structural abnormality.
Maternal contamination of amniotic fluid demonstrated by DNA analysis
Authors: Rebello M. T. , Abas A. , Nicolaides K. , Coleman D. V. 
Published: March 2007

AbstractDNA from 16 sets of samples comprising DNA from uncultured amniotic fluid cells, cultured amniotic fluid cells, fetal tissue, and maternal blood was analysed by the polymerase chain reaction (PCR) with AC‐repeat primers. The analysis was performed to investigate the presence of contaminating maternal cells in amniotic fluid which would affect the reliability of DNA studies for prenatal diagnosis. In three sets, maternal contamination of uncultured amniotic fluid cells was detected. In one of the three sets, maternal contamination was present in both uncultured and cultured amniotic fluid cells. The use of amniotic fluid cells as a source of DNA for prenatal diagnosis should be limited to cases where the purity of the DNA can be demonstrated prior to the diagnostic test being performed. This limitation in the use of amniotic fluid DNA also extends to other forms of diagnosis relying on the purity of amniotic fluid samples, particularly the new in situ hybridization methods currently being developed.
Six years' experience with rapid karyotyping in prenatal diagnosis: Correlations between phenotype detected by ultrasound and fetal karyotype
Authors: Claussen Uwe , Ulmer Renate , Beinder Ernst , Voigt Hans‐Joachim 
Published: March 2007

AbstractFrom September 1985 to March 1992, 804 amniotic fluid samples from 64 different diagnostic centres of the Federal Republic of Germany were sent to our laboratory exclusively for rapid karyotyping. The average time needed for notification of the analysed karyotype was 4·65 days when the ‘pipette method’ was used for chromosome harvesting and 5·97 days when the ‘in situ’ technique was used. The overall incidence of chromosome aberrations was 15·3 per cent. Data are presented about the likelihood of abnormal ultrasound findings being caused by chromosome aberrations. These findings include polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects. In future, such data need to contain larger numbers of cases for each week of gestation. This will improve the risk evaluation for each case with abnormal ultrasound findings, which should lead to better management during pregnancy, delivery, and postnatal care for those who require rapid karyotyping.
Screening of monoclonal antibodies recognizing oncofetal antigens for isolation of trophoblasts from maternal blood for prenatal diagnosis
Authors: Durrant L. G. , McDowell K. M. , Holmes R. A. , Liu D. T. Y. 
Published: March 2007

AbstractMany monoclonal antibodies have been produced against tumour‐associated cell surface antigens for cancer therapy. They have therefore been selected for minimal reactivity with normal tissues and in particular for lack of binding to blood cells or serum components. Many of the antigens recognized are of fetal origin. These monoclonal antibodies may therefore be ideal candidates to recognize and sort fetal trophoblasts from maternal blood for prenatal diagnosis of genetic abnormalities. A panel of 19 anti‐tumour antibodies were therefore screened for reactivity with early trimester placenta and two, 340 and 154, were shown to stain trophoblasts. If MAb 340 is linked to magnetic beads, it can efficiently sort trophoblast cell lines from whole blood.
Meckel‐Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy
Authors: Dumez Yves , Dommergues Marc , Gubler Marie‐Claire , Bunduki Victor , Narcy Francoise , Lemerrer Martine , Mandelbrot Laurent , Berkowitz Richard 
Published: March 2007

AbstractA case of Meckel—Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post‐mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involved in the formation of renal cysts.
Prenatal exclusion of stickler syndrome
Authors: Zlotogora Joel , Granat Menachem , Knowlton Robert G. 
Published: March 2007

AbstractStickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born.
Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus
Authors: Mascarello J. T. , Jones M. C. , Catanzarit V. A. , Brown Kathryn H. 
Published: March 2007

AbstractWe report the detection of a mosaic triple trisomy, 46, XY/49, XY, + 13, +20, +21, in two amniotic fluid specimens obtained from a pregnancy that yielded a normal infant. Traditional cytogenetic methods failed to detect the abnormal cell lineage in fetal blood, foreskin, amnion, umbilical cord, and three different biopsies of the chorion. In addition, fluorescence in situ hybridization study of cells from a buccal smear showed no evidence of cells with three copies of chromosome 20.
Early genetic amniocentesis and its relationship to respiratory difficulties in paediatric patients: A report of findings in patients and matched controls 3–5 years post‐procedure
Authors: Calhoun Byron C. , Brehm Walter , Bombard Allan T. 
Published: March 2007

AbstractThis study evaluates the long‐term pulmonary complications of 25 children from a prospective, matched‐control, pilot study evaluating short‐term complications of early (11–14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were found to have various respiratory difficulties, a morbidity rate comparable to that of paediatric patients in the general population. These data identify the need for larger, multicentre trials.
Re‐evaluation of the colorimetric assay for cytidine deaminase activity
Authors: Okamura Takashi , Kigasawa Kazuko 
Published: March 2007

AbstractThis study re‐evaluated the colorimetric assay for cytidine deaminase (CTD), and showed that the optimum conditions were pH 7·5, 37°C, and up to 24 h. In addition, this method was found to require protein precipitation. Following these modifications, intra‐assay and inter‐assay coefficients of variation were below 5 per cent, indicating that the assay was highly reliable. CTD activity was determined in 282 serum samples from 206 normal pregnant women by the incubation of 100 μl of serum and 400 μl of 1·4 mmol/l cytidine substrate for 16 h at 37°C. Following protein precipitation, the ammonia liberated during conversion was measured by a colorimetric procedure. The mean (±SD) CTD activity was 7·31 ± 2·50 U at 3–12 weeks of gestation, 8·70 ± 2·12 U at 13–24 weeks, 7·59 ± 2·25 U at 25–36 weeks, and 7·29 ± 2·16 U at 37–42 weeks. High levels of CTD activity were found in patients with abruptio placentae and amnionitis associated with intrauterine fetal death (IUFD). The increase in CTD activity was noted from 3 days to 1 week before the confirmation of IUFD. The placenta contains extremely high levels of CTD, but cord serum does not. Thus, the excessive elevation of CTD activity was probably derived from progressive placental damage. This modified CTD assay was concluded to be simple and reliable, and may perhaps be useful in detecting pregnancy disorders.
Prenatal diagnosis of werdnig‐hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers
Authors: Matilla T. , Corral J. , Miranda M. , Troyano J. , Morrison K. , Volpini V. , Estivill X. 
Published: March 2007

AbstractWe present a case of prenatal diagnosis of Werdnig‐Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a deceased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking theSMAgene, on chromosome 5q11·2‐13·3. The fetus was diagnosed as homozygous for the deleteriousSMAgene.
Prenatal detection of X‐linked ichthyosis by maternal serum screening for down syndrome
Authors: Bartels Iris , Caesar Julius , Sancken Ulrich 
Published: March 2007

AbstractMaternal serum unconjugated oestriol (uE3) was measured in 15 375 pregnancies during 2 years of second‐trimester risk assessment for Down syndrome using biochemical markers. Very low levels of uE3 (<0·1 MOM) were detected in 22 serum samples (0·14 per cent). Very low uE3 was associated with an adverse outcome in 13 pregnancies including fetal death and miscarriage (N=11), anencephaly (N=1), and Meckel—Gruber syndrome (N=1). Dry scales on the skin appeared in the first year of life in four boys. From dermatological diagnosis, prenatal uE3 levels, and pedigree analysis, it is concluded that at least 5 in approximately 7500 male births in the study population are affected by steroid sulphatase deficiency, which is the biochemical defect in X‐linked ichthyosis. Very low uE3 levels in the second trimester are indicative of this disease in pregnancies with normal ultrasound findings.
Prenatal exclusion of duchenne muscular dystrophy by fetal muscle biopsy
Authors: Benzie R. J. , Ray P. , Thompson D. , Hunter A. G. W. , Iwey B. , Salvador L. 
Published: March 2007

AbstractA fetal thigh muscle biopsy was performed at 18 weeks and 6 days' gestation using an automatic 18‐gauge biopsy needle. A positive immunoreaction with antisera to the amino‐ and carboxy‐terminals of dystrophin excluded Duchenne muscular dystrophy from this at‐risk male.
Abnormal immunological development in fetuses with trisomy 18
Authors: Makrydimas G. , Plachouras N. , Thilaganathan B. , Nicolaides K. H. 
Published: March 2007

AbstractFlow cytometry was used to enumerate the lymphocyte subpopulations in fetal blood obtained by cordocentesis from eight trisomy 18 fetuses at 20–36 weeks' gestation. Compared with values in chromosomally normal fetuses, in trisomy 18 the mean T‐ and natural killer (NK) cell counts were significantly lower (t= − 7·63, P<0·001 and t= − 3·58, P<0·01, respectively); the mean B‐cell count was not significantly different (t= − 1·32). These findings demonstrate that in trisomy 18 there is abnormal intrauterine development of the immune system.
Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16
Authors: Garber Ann , Carlson Dru , Schreck Rhona , Fischel‐Ghodsian Nathan , Hsu Wei‐Tong , Oeztas Sitki , Pepkowitz Sam , Graham John M. 
Published: March 2007

AbstractWe report two cases of mosaic trisomy 16 diagnosed by amniocentesis, with dysmorphic findings in both cases evident upon delivery. Following elective termination, case 1 demonstrated a trisomy 16 cell line in fetal skin (4 per cent) and placental tissue (64 per cent). Molecular studies on the disomic cell line indicated that both chromosome 16s were maternal in origin, suggesting loss of the paternal chromosome 16 from a trisomic zygote (uniparental heterodisomy). At birth, case 2 demonstrated only disomic cells in skin and blood, with trisomy 16 present in 4 per cent of cells from the amnion. Molecular studies confirmed both maternal and paternal contributions of the chromosome 16s. We analysed DNA from one previously reported case of mosaic trisomy 16 (Williams et al., 1992) and failed to find signs of uniparental disomy in this child with congenital heart defects. These cases had distinctive but different dysmorphic features. We suggest that trisomy 16 embryos may revert to disomy during the course of pregnancy, allowing for longer survival with various abnormalities in growth and morphogenesis. The clinical significance of prenatally detected mosaic trisomy 16 may not be completely defined by additional cytogenetic, molecular, and ultrasound studies.
Comparison of first‐trimester transvaginal amniocentesis with chorionic villus sampling and mid‐trimester amniocentesis
Authors: Shalev E. , Weiner E. , Yanai N. , Shneur Y. , Cohen H. 
Published: March 2007

AbstractBetween August 1989 and December 1991, 356 patients underwent first‐trimester transvaginal amniocentesis (10–12 weeks). The same number of patients referred in the same period for mid‐trimester amniocentesis (14–21 weeks) was matched also for maternal age and indication. A third group consisted of the first 356 cases in which chorionic villus sampling (CVS) was attempted. The overall success rate was 99·7 and 100 per cent for early and mid‐trimester amniocentesis, respectively, and 97·2 per cent for CVS. The mean harvesting time was 12·8, 11, and 7·9 days, respectively. The percentage of patients rescheduled was 3·4 per cent in first‐trimester amniocentesis, 1·7 per cent in mid‐trimester amniocentesis, and 6·2 per cent in the CVS group. The early (less than 2 weeks) pregnancy loss was 1·7 and 0·6 per cent in early and mid‐trimester amniocentesis, respectively, and 1·7 per cent in CVS. The total pregnancy loss was 3·2, 0·9, and 2·9 per cent, respectively. The rate of preterm birth was 6·0, 5·2 and 6·9 per cent, respectively. The results indicate that CVS has the shortest procedure‐result interval, but the highest rescheduling rate. First‐trimester amniocentesis has a higher procedure and laboratory success rate but, until otherwise proved, mid‐trimester amniocentesis is the most efficient and safest procedure.
The early prenatal sonographic diagnosis of renal agenesis: Techniques and possible pitfalls
Authors: Bronshtein M. , Amit A. , Achiron R. , Noy I. , Blumenfeld Z. 
Published: March 2007

AbstractOut of 13 252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false‐positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation.
Simpson—Golabi—Behmel syndrome: Disproportionate fetal overgrowth and elevated maternal serum alpha‐fetoprotein
Authors: Hughes‐Benzie R. M. , Tolmie J. L. , McNay M. , Patrick A. 
Published: March 2007

AbstractSimpson—Golabi—Behmel (SGB) syndrome is an X‐linked condition with pre‐ and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies. We report an affected male who presented at 16 weeks' gestation with elevated maternal serum α‐fetoprotein (MSAFP). Fetal measurements at 20 and 31 weeks' gestation were disproportionate, with marked macrosomia but a low head to abdominal circumference ratio and normal femur length. Fetal overgrowth with elevated MSAFP may prove to be useful markers for the prenatal diagnosis of SGB syndrome.
Variation in prenatal cytogenetic diagnosis: Policies in 13 european countries, 1989–1991
Authors: Cornel Martina C. ,   THE EUROCAT WORKING GROUP
Published: March 2007

AbstractThe livebirth prevalence of autosomal chromosomal anomalies is determined by several factors, including maternal age distribution and the impact of prenatal cytogenetic diagnosis (PCD). The impact of PCD varies between countries, as the indications and the uptake vary. In a previous study we described differences in Down syndrome prevalence and the proportion of older mothers. We have now made a survey of the official PCD policies in 25 regions in 13 European countries for the period 1989–1991. In two countries, termination of pregnancy was not available. In the other 11 countries, international agreement existed on five indications: advanced maternal age, a previous child with a chromosomal anomaly, parents who are carriers of a balanced translocation, mothers who are carriers of an X‐linked disorder, and malformations at ultrasound. The exact limit for advanced maternal age varied from 35 to 38 years. There was a considerable variation for the indications advanced paternal age, amniocentesis for AFP or DNA, parental anxiety, a previous child with a congenital anomaly, abnormal maternal serum markers, and exposure to radiation/chemotherapy. The PCD uptake for mothers above the maternal age limit varied from 10 to 88 per cent. International harmonization of the indications for PCD is not considered feasible at present, because of the rapid changes in PCD policies even within countries.