bluuebunny/crossref_metadata_2025_split huggingface dataset:
The BOR syndrome and renal agenesis‐prenatal diagnosis andfurther clinical delineation
Authors: Greenberg Cheryl R. , Trevenen Cynthia L. , Evans Jane A. 
Published: March 2007

AbstractThis is the first report of prenatal diagnosis of a fetus with brachio‐oto‐renal dysplasia (BOR) syndrome with right‐sided renal agenesis and severe left hypoplasia. The father of this fetus had malformed external ears, a left‐sided preauricular pit and branchial cyst, and bilateral mild to moderate deafness without a demonstrable renal anomaly. This family highlights the variable expressivity seen in the autosomal dominant BOR syndrome, the importance of genetic counselling for families with BOR syndrome, and the aetiologic heterogeneity of renal agenesis.
An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue
Authors: Crane James P. , Cheung Sau W. 
Published: March 2007

AbstractWhile the fetus and placenta have a common ancestry, chorionic villus tissue does not always reflect fetal genotype. Data are presented from 15 CVS subjects in whom cytogenetic inconsistencies were observed when comparing (1) cultured chorionic villi, (2) direct chromosome preparations of intact villi, and (3) cultured fetal tissue. Embryogenic models are presented to explain these discrepancies. Mosaicism confined to direct chromosome preparations was the most commonly observed inconsistency. This can be explained by postzygotic non‐disjunction limited to cytotrophoblast. In all but one instance, the abnormal cell line was limited to the placenta, with the normal cell line reflecting fetal genotype. Analysis of direct chromosome preparations from multiple individually processed villus fragments may be helpful in recognizing mosaicism confined to the placenta. While both direct chromosome preparations and villus cultures can be misleading, the latter are more likely to reflect fetal genetic status since they are derived from the extraembryonic mesoderm.
HLA‐A,B,C,DR typing and 17‐OHP determination for second trimester prenatal diagnosis of 21‐hydroxylase deficient CAH
Authors: Grosse‐Wilde H. , Valentine‐Thon E. , Vögeler U. , Passarge E. , Lorenzen F. , Sippell W. G. , Bidlingmaier F. , Knorr D. 
Published: March 2007

AbstractIn 18 families at risk for the HLA‐linked, 21‐hydroxylase deficient form of autosomal recessive congenital adrenal hyperplasia (CAH), prenatal diagnosis (PD) was performed using two methods: (1) HLA‐A,B,C typing and in the latter 11 cases also DR typing of cultured amniotic fluid cells (AFC) using the standard microcytotoxicity assay, and (2) measurement of second trimester amniotic fluid 17‐hydroxyprogesterone (17‐OHP) concentration using gel chromatography and radioimmunoassay. The accuracy of the prenatal predictions was confirmed by postnatal HLA typing of umbilical cord blood lymphocytes and by clinical evaluation.In 16/18 families, both HLA typing of AFC and 17‐OHP measurements proved informative for PD. The predictions of both methods were concordant in 14/16 families (88 per cent). In ten of these families, a normal fetus was predicted, and in four, an affected fetus; all pregnancies were carried to term and all predictions were confirmed postnatally. In 2/16 cases (12 per cent), however, the predictions were discordant: the prenatal HLA typing indicated an affected fetus, whereas the 17‐OHP values predicted a normal fetus. Both pregnancies were continued and two healthy boys were delivered. The discordance proved to be due to a ‘missed’ HLA antigen in one case and to serologically cross‐reactive HLA antigens in the second.Finally, in 2/18 cases, prenatal assessment of fetal genotype had to rely on HLA typing alone as 17‐OHP measurement was not performed in one family and in the second family the 17‐OHP values obtained were not informative due to inadvertent continuation of hormone therapy to the date of amniocentesis. In both cases, the HLA typing data accurately predicted a normal fetus.In conclusion, a combination of HLA typing of cultured AFC and 17‐OHP measurements of amniotic fluid permits accurate prenatal diagnosis of CAH in most cases (88 per cent). In addition, the supplementary use of HLA‐DR typing of AFC as presented here for the first time proved helpful in families with HLA‐A.B homozygosity due to parental sharing of antigens and can be informative for identifying HLA‐B/21‐OH recombinant haplotypes.
Prenatal diagnosis of the pterygium syndrome
Authors: Zeitune Móshe , Fejgin Moshe D. , Abramowicz Jacques , Aderet Noah Ben , Goodman Richard M. 
Published: March 2007

AbstractWe report two second trimester pregnancy terminations in the same woman following intrauterine ultrasonic findings of hydrops fetalis, polyhydramnios, lack of fetal movements, and short, fixed malformed limbs. One fetus also showed a cystic mass at the back of the head. Radiographic and anatomic studies of the fetuses demonstrated multiple pterygia, flexion contracture of multiple joints, abnormal facial appearance, cleft palate, pulmonary hypoplasia, and gracile bones. The cystic mass of the back of the head was found to be a cystic hygroma.These findings are consistent with the lethal variant of multiple pterygium syndrome. Early prenatal diagnosis of this condition is possible using ultrasonography.
Prenatal diagnosis of galactosialidosis
Authors: Sewell A. C. , Pontz B. F. 
Published: March 2007

AbstractThe second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and β‐galactosidase activities in cultured amniotic cells were deficient, this being confirmed by skin fibroblast enzyme assay on the affected fetus after interruption of the pregnancy. Cultured placental cells demonstrated the same enzyme deficiencies. Analysis of deproteinized amniotic fluid showed the presence of abnormal oligosaccharides specific for a‐neuraminidase deficiency.
Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence
Authors: Scarbrough Paula R. , Files Beatrice , Carroll Andrew J. , Quinlan R. William , Finley Sara C. , Finley Wayne H. 
Published: March 2007

AbstractRelatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned breakpoints. They include proximal interstitial, intermediate interstitial, and terminal deletions. We present a male infant with an interstitial deletion of 1q with breakpoints determined by GTG banding as q25 and q32. Comparison with similar case reports suggests common physical features which include microcephaly, growth retardation, developmental delay, clinodactyly, and genital anomalies in affected males. However, no characteristic phenotypic appearance is definable.The infant also presented with prune belly sequence (PBS) with Potter fades. Fetal ascites, as noted in this case on prenatal ultrasound, appears to be an early factor in the pathogenesis of PBS. Therefore, detection of fetal ascites should suggest the presence of the PBS association and the need for more extensive prenatal evaluation.
Amniotic fluid alpha‐fetoprotein levels and prenatal diagnosis of autosomal trisomies
Authors: Kaffe Sara , Perlis Theresa E. , Hsu Lillian Y. F. 
Published: March 2007

AbstractPregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha‐fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut‐off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut‐off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained.
First trimester diagnosis of methylmalonic aciduria
Authors: Fowler B. , Giles L. , Sardharwalla I. B. , Donnai P. , Clayton J. K. 
Published: March 2007

AbstractWe have studied methylmalonyl CoA mutase activity in control chorionic villi to establish the potential use of assays performed directly on this tissue for prenatal diagnosis of methylmalonic aciduria. We report the detection of a fetus affected with the apo‐mutase deficient form of this condition at 9 weeks' gestation. Methylmalonyl CoA mutase was markedly deficient in chorionic villi, approximately 2–5 per cent of the mean control value. However, incorporation of label from [14C]‐propionate into protein was 10 and 40 per cent of the mean control value, respectively, in two portions of the same biopsy, highlighting potential problems in the use of this indirect assay. Normal results were obtained in chorionic villus samples from four other pregnancies ‘at risk’ for methylmalonic aciduria which were subsequently shown to be unaffected with this condition. The diagnosis in the affected pregnancy was confirmed by demonstration of a marked deficiency of methylmalonyl CoA mutase activity in villi obtained at termination and in cultured fetal fibroblasts. Reduced incorporation of [14C]‐propionate label into protein was also found in these tissues.
Termination of pregnancy by a dilatation‐evacuation technique to obtain placental tissue for DNA analysis
Authors: Ferrari M. , Cantù‐Rajnoldi A. , Pietri S. , Buscaglia M. , Nicolinl U. 
Published: March 2007

AbstractIn 57 patients, following prenatal diagnosis of a fetus affected by β‐thalassaemia major, we terminated the pregnancy by dilatation and evacuation. In 19, we have already performed DNA analysis to evaluate the feasibility of prenatal diagnosis in a subsequent pregnancy.
Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times
Authors: Wegner R.‐D. , Hohle R. , Karkut G. , Sperling K. 
Published: March 2007

AbstractShort‐ and long‐term cultures of chorionic villi obtained in the 11th week of pregnancy revealed trisomy 14. After induced abortion trisomy 14 mosaicism was established in fetal skin and umbilical cord tissue while a second long‐term culture of chorionic villi exhibited a normal karyotype. The results of the pathological investigations are discussed with respect to the cytogenetic findings.
OEIS complex (cloacal exstrophy): Prenatal diagnosis in the second trimester
Authors: Kutzner Deann K. , Wilson William G. , Hogge W. Allen 
Published: March 2007

AbstractOEIS complex (exstrophy of the cloaca) is an association of fetal malformations that includes omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects. Most cases should be prenatally detectable by maternal serum alpha‐fetoprotein screening, but an accurate diagnosis is essential for appropriate counselling of the family.
Amniotic fluid‐AFP in Down syndrome and other chromosome abnormalities
Authors: Crandall Barbara F. , Matsumoto Myles , Perdue Sondra 
Published: March 2007

Abstract80·2 Per cent of 111 Down syndrome pregnancies had amniotic fluid (AF) alpha fetoprotein (AFP) levels on or below the median and 10·8 per cent at or below 0·5 MoM compared with 41·9 and 1·4 per cent of controls. These differences were even more striking when the gestational age was < 18 weeks compared with ⩾ 18 weeks. No such association was seen for other chromosome abnormalities including trisomy 18,45,X and mosaics, 47,XXY, 47,XXX, and other structural abnormalities and triploidy, even when high levels due to defects such as omphalocele and cystic hygroma were excluded. All cases of trisomy 13 and 80 per cent with 47,XYY had AF‐AFP levels above the median. Selection of cases for karyotyping by a low level of AF‐AFP would clearly fail to detect aneuploidies other than Down syndrome and is not recommended. A possible weak association between low maternal serum (MS) and AF‐AFPs in Down syndrome was most evident at < 18 weeks, suggesting that MS screening between 16 and 18 weeks may be the most informative time.
Trisomy 7 in chorionic villi: Follow‐up studies of pregnancy, normal child, and placental clonal anomalies
Authors: DeLozier‐Blanchet C. Dawn , Engel Eric , Extermann Philippe , Pastori Béatrice 
Published: March 2007

AbstractCytogenetic study of chorionic villi sampled because of advanced maternal age revealed, after overnight culture, an apparently non‐mosaic trisomy 7. Amniocentesis showed exclusively normal mitoses, and the pregnancy continued normally. One hundred mitoses from cord blood of the normal newborn revealed a non‐mosaic 46,XX complement. No cells with a proven trisomy 7 were found in cultures from either of two biopsies of the morphologically normal placenta, but the peripheral biopsy showed in multiple cultures an abnormal clone: 47,XX, + 20,‐2,‐21, + t(2;21)(p13;q22). To our knowledge, this is the first case of non‐mosaic trisomy 7 detected on CVS which has had follow‐up studies of amniotic fluid, cord blood, and term placenta.
Immunoblot detection of enzyme proteins of peroxisomal β‐oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome
Authors: Shimozawa Nobuyuki , Suzuki Yasuyuki , Orii Tadao , Hashimoto Takashi 
Published: March 2007

AbstractThe amounts of enzyme proteins of peroxisomal β‐oxidation in fibroblasts and chorionic villous cells from infants with Zellweger syndrome and in fibroblasts, amniocytes, and chorionic villi from healthy controls were measured by immunoblot analysis. Immunoreactive proteins of peroxisomal acyl‐CoA oxidase and 3‐ketoacyl‐CoA thiolase were absent in fibroblasts and chorionic villous cells from the patients, yet these enzyme proteins were present in fibroblasts, cultured amniocytes, and chorionic villi from the normal controls. These results show that immunoblot analysis of peroxisomal β‐oxidation enzymes in amniocytes and chorionic villous cells is of potential value for the prenatal detection of Zellweger syndrome.
Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization
Authors: Cannizzaro Linda A. , Hecht Barbara K. , Bixenman Helen A. , Pazdziorko Stephen , Tamis Robert , Hecht Frederick 
Published: March 2007

AbstractWe report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.
Multiple sulphatase deficiency: Prenatal diagnosis using chorionic villi
Authors: Patrick A. D. , Young Elisabeth , Ellis Cheryl , Rodeck C. H. 
Published: March 2007

AbstractMultiple sulphatase deficiency was diagnosed in the first trimester of pregnancy by demonstrating markedly reduced activities of arylsulphatases and heparin sulphamidase by direct assays on chorionic villi (CV). The diagnosis was confirmed by assays on cell cultures of villi and fetal skin fibroblasts. Two further pregnancies of this mother were monitored similarly and predicted to be unaffected; one produced a normal healthy infant, the other miscarried shortly after CV sampling.
Rapid karyotyping for prenatal diagnosis in the second and third trimesters of pregnancy
Authors: Basaran Seher , Miny Peter , Pawlowitzki Ivar‐Harry , Horst Jürgen , Holzgreve Wolfgang 
Published: March 2007

AbstractDirect chromosome preparations were performed on placental villi obtained by ultrasoundguided needle aspiration between 18 and 37 weeks of pregnancy in 53 patients. The sampling yielded a sufficient amount of tissue with a maximum of two, and in most cases one, insertions. Placental biopsy is easily performed in cases of severe oligohydrammnios, where fetal blood sampling is usually more difficult. Direct karyotyping of placental villi is faster than chromosome analysis from fetal blood or application of the pipette method on amniotic fluid cells, and currently represents the most rapid approach to prenatal diagnosis of chromosomal abnormalities from the first to the third trimester of pregnancy.
Prenatal diagnosis of abdominal cystic hygroma
Authors: Kozlowski Karen J. , Frazier Cynthia N. , Quirk J. Gerald 
Published: March 2007

AbstractWe present a case of fetal abdominal cystic hygroma that presented at 19 weeks of gestation. Ultrasonographic evaluation of the fetus revealed soft tissue enlargement of the left leg and a retroperitoneal mass in the left pelvis and abdomen. This represents the first reported case of prenatal diagnosis of abdominal cystic hygroma.
First trimester prenatal diagnosis of haemophilia A: Two years' experience
Authors: Bröcker‐Vriends A. H. J. T. , Briët E. , Kanhai H. H. H. , Bakker E. , Dreesen J. C. F. M. , Leschot N. J. , van de Kamp J. J. P. , Pearson P. L. 
Published: March 2007

AbstractWe evaluated the feasibility, reliability, and acceptability of prenatal diagnosis of haemophilia A by DNA analysis of chorionic villi.Twenty‐two women at risk to transmit the abnormal gene were referred for prenatal diagnosis, two of them twice. Two of the 22 women appeared to be non‐carriers by DNA analysis. In one of these women, the results were known only after chorionic villus sampling had been carried out.Thirteen of the twenty carriers were heterozygous for an intragenic (Bell or Xbal) marker; six women were only heterozygous for the extragenic DXS52 (Stl4) locus. One of the women was homozygous for all the presently known DNA markers within or closely linked with the factor VIII locus.Twelve of the 22 fetuses at risk were male, ten were female. Seven of the 12 male fetuses were shown to be affected and were subsequently aborted. Four male fetuses appeared to be not affected. In one case, the diagnosis was made by use of an extragenic marker. The woman rejected fetal blood sampling to confirm the diagnosis. After birth, a normal factor VIII level was found in three of the four cases. The fourth pregnancy is still continuing. In one of the 12 male fetuses, no diagnosis at the gene level was possible.DNA analysis is expected to provide maximum certainty as to the phenotype of the fetus for approximately 60 per cent of the women; for another 37 per cent a rate of misdiagnosis of 4–5 per cent applies. In only 3 per cent of the cases will no diagnosis at the gene level be possible as yet.The new possibility of a prenatal diagnosis in the first trimester of pregnancy enabled some of these women to have a family of their own and was appreciated in particular by the women who underwent fetoscopy in an earlier pregnancy.
Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling
Authors: Callen D. F. , Korban G. , Dawson G. , Gugasyan L. , Krumins E. J. M. , Eichenbaum S. , Petrass J. , Purvis‐Smith S. , Smith A. , Den Dulk G. , Martin N. 
Published: March 2007

AbstractFrom a total of 1312 diagnostic chorionic villus samplings (CVS) there were 22 which showed discordance between the karyotype of the chorionic villi and that of the fetus. This frequency was some 20‐fold higher than that reported at amniocentesis. In the majority of discordant cases, the fetal karyotype was normal while the placenta! karyotype was mosaic. In four cases, the placenta! karyotype was non‐mosaic (a trisomy 16, a monosomy X, and two tetraploids) while the fetal karyotype was normal. In one case, the placenta was trisomy 18 while the fetus was mosaic. There were two ‘false‐negative’ results where short‐term methods showed only normal cells while both long‐term cultures of chorionic villi and fetal cells were mosaic, in one 46,XY/47.XXY and in the other 46,X Y/47.X Y, + 21.
Chromosome banding in direct preparations of chorionic villi
Authors: Murer‐Orlando M. , Lierena J. , McGuire M. , Zahed L. , Crolla J. , Bobrow M. , Sheridan R. 
Published: March 2007

AbstractChorionic villus sampling (CVS) is now currently offered for first trimester prenatal diagnosis of genetic disorders. Chromosome analysis of CVS in direct and culture preparations is possible using modifications of standard banding techniques. We summarize our experience in applying QFQ, GTG, RBG, CBG, DA/DAPI, NOR, and SC differentiation protocols to direct preparations.Characteristic chromosome regions are properly labelled by these techniques, and analysis of 300 band stage karyotypes is consistently achievable on GTG banded direct preparations.However, banding of CVS direct chromosomes has proved to be difficult, and the analysis needs to be backed up by culture preparations.
First trimester diagnosis of Gaucher disease in a fetus with trisomy 21
Authors: Besley G. T. N. , Ferguson‐Smith M. E. , Frew C. , Morris A. , Gilmore D. H. 
Published: March 2007

AbstractA 38‐year‐old lady, who had a previous infant with type 2 Gaucher disease, underwent prenatal diagnosis by chorionic villus sampling at 9 weeks' gestation. Results on the fresh villus revealed a 47,XY,+21 karyotype and a marked deficiency (2 per cent of control) of β‐glucosidase activity. Following termination, villus material was cultured which initially revealed only a partial enzyme deficiency and a normal female karyotype, i.e., maternal cells. A subsequent culture contained 47,XY, + 21 cells which were deficient in β‐glucosidase activity, thus confirming the diagnosis. The results in this interesting case illustrate the potential dangers of maternal cell contamination in cultured villus cells.
Prenatal diagnosis with biotinylated chromosome specific probes
Authors: Guyot Bernard , Bazin Anne , Sole Yvette , Julien Christophe , Daffos Fernand , Forestier François 
Published: March 2007

AbstractWe have used a Y‐chromosome specific DNA probe in a controlled study to determine the presence of Y‐chromosome material and to detect numerical abnormalities in uncultured amniotic fluid cells by fluorescent hybridization. Using this non‐radioactive method, we correctly predicted fetal sex within 48 h in all but 3 of 54 cases and identified an XYY syndrome. The technique was previously tested with no false‐positive or false‐negative results on cultured interphase or metaphase nuclei of fetal fibroblasts and adult T‐lymphocytes. Fluorescent in situ hybridization was applied to long‐term fixed cytogenetic preparations up to 44 months old and was shown to be reliable.
Direct and short‐term culture preparation of chorionic villi. Is any one method best?
Authors: Holmes D. S. , Fifer A. M. , Mackenzie W. E. , Griffiths M. J. , Newton J. R. 
Published: March 2007

AbstractChorionic villi from 20 diagnostic cases were prepared for cytogenetic analysis by a direct and two short‐term culture methods. No significant differences were found between the methods in the quality and quantity of metaphases obtained. A further study using villi from 20 pre‐termination patients indicated an inherent variation in the quality of villi resulting in inconsistent processing and variation in the response of a sample to the methods. This suggests that it would be advantageous to process the villi by more than one method.