bluuebunny/crossref_metadata_2025_split huggingface dataset:
Early prenatal diagnosis of cartilage‐hair hypoplasia (CHH) with polymorphic DNA markers
Authors: Sulisalo Tuija , Sillence David , Wilson Meredith , Ryynänen Markku , Kaitila Ilkka 
Published: March 2007

AbstractCartilage‐hair hypoplasia (CHH) is an autosomal recessive disorder resulting in short stature and hypoplasia of hair. Associated features include impaired T‐cell‐mediated immunity, deficient erythropoiesis, gastrointestinal dysfunction, and an increased risk of malignancies. As the condition may, in some cases, be severe or even fatal during childhood, families with a previous history of CHH may wish to have prenatal diagnosis. We have previously assigned the gene for CHH to the proximal 9p by linkage analysis using several polymorphic DNA markers. Here we report the prenatal testing for CHH in three Finnish and one Australian family using three DNA markers closely linked to the CHH gene. In three cases a fetus unaffected with CHH was predicted at the probability level of more than 94 per cent. In one case, an affected fetus was predicted. The results were in concordance with ultrasonography performed for all fetuses. The three children born to date were unaffected as predicted. The DNA marker‐based analysis thus provides a useful method for early prenatal testing for CHH.
Fetal erythroblasts from maternal blood identified with 2,3‐bisphosphoglycerate (BPG) and in situ hybridization (ISH) using Y‐specific probes
Authors: Von Koskull Harriet , Gahmberg Nina 
Published: March 2007

AbstractDifferent types of fetal nucleated cells can be found in maternal blood, providing the possibility of non‐invasive prenatal diagnosis. For this purpose, we have studied fetal erythroblasts. We discovered that haemoglobin‐containing cells treated with 2,3‐bisphosphoglycerate (BPG) can be visualized by a peroxidase reaction, which at the same time visualizes an in situ hybridization (ISH) signal, specific for the X, Y or 21 chromosome. In order to prove that the BPG‐positive cells were erythroid, an anti‐glycophorin A (GPA) antiserum combined with a staphylococcal rosette technique was used. To enrich for erythroblasts, leukocytes were depleted from maternal blood by treatment with anti‐CD45 monoclonal antibody and passage over an anti‐mouse IgG‐coated glass bead column. To evaluate the potential of the method for clinical use, we studied maternal blood samples from 18 women referred to us for prenatal diagnosis between 6 and 19 weeks of gestation. Erythroblasts were found in 13 out of 14 normal pregnancies. Erythroblasts with a Y‐signal were found as early as 9 weeks of gestation, but at 6 weeks the Y‐signal was seen in BPG‐negative cells only. These cells showed an epithelioid morphology indicating that they were cytotrophoblasts. The BPG‐ISH method provides a simple technique for identifying erythroblasts and simultaneously visualizing a desired probe.
The development of the fetal eye: In utero ultrasonographic measurements of the vitreous and lens
Authors: Achiron R. , Gottlieb Z. , Yaron Y. , Gabbay M. , Gabbay U. , Lipitz S. , Mashiach S. 
Published: March 2007

AbstractOur objective was to establish nomograms for fetal eye measurements from 12 weeks' gestation by using transvaginal and transabdominal high‐resolution ultrasound techniques. A prospective cross‐sectional study was performed on 450 normal singleton pregnancies between 12 and 37 weeks' gestation. Vitreous and lens circumferences were measured by transvaginal ultrasonography until 17 weeks, and by abdominal ultrasound between 18 and 37 weeks' gestation. Regression analyses were used to create nomograms, and several transformations were done to obtain linearity. Eye measurements of 12 fetuses at risk for ocular disturbances were plotted on the constructed nomograms. Linear relationships were fitted between vitreous (r2=0.79) and lens (r2=0.88) circumferences and gestational age. In addition, there was a significant correlation between these measurements and the biparietal diameter. Data of the fetuses at risk showed that disturbances in ocular growth were associated mainly with abnormal cerebral development. These normative data may be helpful in the prenatal diagnosis of suspected congenital syndromes that include, among their manifestations, ocular growth disturbances such as microphthalmos and anophthalmos.
Collagen biosynthesis in cell culture from chorionic villi
Authors: Chamson A. , Bertheas M. F. , Frey J. 
Published: March 2007

AbstractAfter chorionic villus biopsy of human placenta, cell cultures were propagated with Ham's F10 medium or Eagle's minimum essential medium (MEM). It was possible to study the morphology of the cells by transmission electron microscopy (TEM) after a special culture of the cells in a collagen gel. The cells embedded in a collagen gel were able to contract the gel and to organize collagen fibres, as fibroblast cultures do. TEM showed vacuolization and well‐developed cisternae of the endoplasmic reticulum, especially in the case of MEM culture. The aim was to determine whether cells cultivated from early placenta were able to synthesize enough collagen for a metabolic study. A high level of collagen biosynthesis could be quantified. Types I and III collagen can be determined which is useful for studying the abnormalities of collagen synthesis in suspected cases of osteogenesis imperfecta or Ehlers–Danlos type IV syndrome. The hydroxylation of lysine can also be studied with respect to Ehlers–Danlos type VI syndrome. Moreover, these cells, in contrast to fibroblast cultures, made it possible to study the biosynthesis of type IV collagen.
Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)
Authors: Robbins‐Furman P. , Hecht J. T. , Rocklin M. , Maklad N. , Greenhaw G. , Wilkins I. 
Published: March 2007

AbstractThe diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20‐week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.
Early prenatal diagnosis of an infratentorial arachnoid cyst: Association with an unbalanced translocation
Authors: Hogge W. Allen , Schnatterly Patricia , Ferguson James E. 
Published: March 2007

AbstractArachnoid cysts are an uncommon central nervous system malformation, representing only 1 per cent of all intracranial masses. We report the second‐trimester prenatal diagnosis of a posterior fossa arachnoid cyst, associated with an unbalanced X;9 translocation.
Digeorge syndrome with total monosomy 22 diagnosed prenatally
Authors: Merino A. , De Perdigo A. , Nomballais F. , Yyinec M. , Lopes P. 
Published: March 2007

AbstractA case of monosomy 22 diagnosed prenatally is reported. During pregnancy, ultrasonic observations already revealed several cardiac malformations of the fetus in the 25th week. Following counselling, the pregnancy was terminated. Fetal autopsy revealed several abnormalities associated with DiGeorge syndrome.
Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ hybridization of post‐replicated cells with site‐specific cosmid and cosmid contig probes
Authors: Soloviev Ilia V. , Yurov Yuri B. , Vorsanova Svetlana G. , Fayet Florance , Roizes Gerard , Malet Paul 
Published: March 2007

AbstractInterphase fluorescence in situ hybridization (FISH) with chromosome 21‐specific cosmid clones was used to identify trisomy 21 in cultured and uncultured amniotic cells. Two novel site‐specific cosmid clones (regions 21q22 and 21qtel) were compared with a cosmid contig (Zheng et al., 1992). Correct identification of chromosome 21 copy number was made in 65–75 per cent of trisomic cells and in 70–75 per cent of normal disomic cells by using all the tested probes. However, the chromosome 21‐specific telomeric probe (cos 17F8) showed the best results due to more intense and clearly visible hybridization. Utilization of a directly fluorophorated telomeric probe using Cy3‐dCTP and FluorX‐dCTP allows accurate detection of chromosome 21 in a fast ‘one‐step’ FISH procedure on uncultured interphase nuclei. In addition, we compared the efficacy of FISH analysis for the total population of interphase cells and cells in the post‐replication (late S, G2) periods of the cell cycle. Selective scoring of cells in the post‐replicative period (showing a pair of hybridization signals on each chromatid of the replicated interphase chromosome) increased the number of informative nuclei by up to 95–97 per cent. This approach allows cells with overlapping chromosomes, artificial double hybridization signals on separate chromatids in interphase chromosomes, background hybridization, and polyploid cells to be analysed. Application of directly labelled telomeric cosmid probes and integral analysis of hybridized nuclei in the pre‐ and post‐replication periods of the cell cycle may help to further improve the prenatal detection of trisomy 21.
Detection of fetal HLA‐DQα sequences in maternal blood: A gender‐independent technique of fetal cell identification
Authors: Geifman‐Holtzman Ossie , Holtzman Eliezer J. , Vadnais Theresa J. , Phillips Vincent E. , Capeless Eleanor L. , Bianchi Diana W. 
Published: March 2007

AbstractThe objective of this study was to detect fetal HLA‐DQα gene sequences in maternal blood. HLA‐DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow‐sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA‐DQα A1 allele. Fetal HLA‐DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA‐DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA‐DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non‐invasive prenatal diagnosis of paternally inherited conditions.
Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21
Authors: Phelan Mary C. , Saul Robert A. , Gailey Thompson A. , Skinner Steven A. 
Published: March 2007

AbstractMosaicism for the Wolf‐Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non‐mosaic trisomy 21 in a 16‐week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.
Fetal translocation between chromosomes 2, 18, and 21 resolved by fish
Authors: Delaroche Isabella , Sabani Margherita , Calabrese Giuseppe , Mingarelli Rita , Palka Giandomenico , Dallapiccola Bruno 
Published: March 2007

AbstractAn apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22‐week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.
Detecting neural tube defects by amniocentesis between 11 and 15 weeks' gestation
Authors: Crandall B. F. , Chua C. 
Published: March 2007

AbstractForty‐two open neural tube defects (NTDs) were identified in our series of 7440 amniocenteses tested between 11 and 15 weeks of gestation. Using a cut‐off of ≥2.0 MOM, the detection rate for open NTDs was 95 per cent; 100 per cent each for anencephaly and spina bifida; and 78 per cent for encephalocele. Two encephaloceles had AFP levels less than 2.0 MOM and negative AChEs. Thirty‐four (81 per cent) of these NTDs were tested between 13 and 15 weeks and 8 (19 per cent) before 13 weeks. There were 0.6 per cent false positives by AFP (excluding serious abnormalities and fetal death) and 0.1 per cent after AChE. The likelihood of an open NTD after an elevated AFP (≥2.0 MOM) was 24 and 77 per cent for any serious abnormality. These results, when combined with an earlier study, indicate that amniotic fluid AFP appears to be as sensitive a test for open NTDs between 13 and 15 weeks as between 16 and 20 weeks. Additional experience is necessary to determine this before 13 weeks.
DNA‐based carrier detection and prenatal diagnosis of tyrosinase‐negative oculocutaneous albinism (OCA1A)
Authors: Falik‐Borenstein Tzipora C. , Holmes Stuart A. , Borochowitz Zvi , Levin Abi , Rosenmann A. , Spritz Richard A. 
Published: March 2007

AbstractWe describe molecular prenatal diagnosis and carrier detection of tyrosinase‐negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA‐based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.
Prenatal diagnosis in a family with mitochondrial acetoacetyl‐coenzyme a thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method
Authors: Fukao Toshiyuki , Wakazono Akihiro , Song Xiang‐Qian , Yamaguchi Seiji , Zacharias Rebecca , Donlan Michael A. , Orii Tadao 
Published: March 2007

AbstractMitochondrial acetoacetyl‐coenzyme A (CoA) thiolase deficiency is an organic aciduria which affects isoleucine and ketone body catabolism. GK16 (the index patient) was affected with this disorder and previous studies had revealed that GK16 was a compound heterozygote with IVS8(+1) gt to tt and A301P mutations. In a subsequent pregnancy, prenatal diagnosis was performed and the fetus's amniocytes were analysed by the polymerase chain reaction (PCR) followed by the heteroduplex detection method on a Mutation Detection Enhancement gel. The fetus was identified as a carrier of the IVS8(+1) mutation. We confirmed the diagnosis by immunoblot analysis of extracted amniocytes and gene analysis with blood filter paper after delivery. This is the first report of prenatal diagnosis of this disorder at the gene level.
Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses
Authors: Wladimiroff Juriy W. , Bhaggoe Wydia R. , Kristelijn Miranda , Cohen‐Overbeek Titia E. , Den Hollander Nicolette S. , Brandenburg Helen , Los Frans J. 
Published: March 2007

AbstractStructural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turnersyndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18=77.5 per cent).
A misdiagnosis of X‐linked adrenoleucodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids
Authors: Gray R. G. F. , Green A. , Cole T. , Davidson V. , Giles M. , Schutgens R. B. H. , Wanders R. J. A. 
Published: March 2007

AbstractA case is reported of a male fetus at risk of X‐linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix‐up was excluded by chromosome analysis and analysis of polymorphic markers. This is the second report of a fetus affected with this disorder who showed normal cultured chorionic villus cell VLCFAs. It highlights the importance of a proper audit of all prenatal diagnoses to evaluate method reliability.
Short communication the natural history of fetal cytomegalovirus infection as assessed by serial ultrasound and fetal blood sampling: A case report
Authors: Watt‐Morse Margaret L. , Laifer Steven A. , Hill Lyndon M. 
Published: March 2007

AbstractA patient in whom intrauterine fetal cytomegalovirus (CMV) infection was diagnosed at approximately 25 weeks' gestation is presented. The fetus was evaluated by serial fetal blood samplings and ultrasound examinations. The fetus manifested evidence of severe thrombocytopenia and hepatic inflammation, with recovery over a period of approximately 8 weeks. The initial sonographic findings of marked fetal ascites and cardiomegaly gradually resolved; ventriculomegaly developed during the third trimester. At delivery, the baby was morphologically normal with the exception of mild ventriculomegaly. Cord blood was negative for CMV IgM but urine was culture‐positive for CMV. At age 3, the child has a severe but stable unilateral hearing deficit and is otherwise developmentally normal. This case demonstrates the utility of serial ultrasound and fetal blood sampling in the prenatal diagnosis and management of fetal CMV infection.
Prenatal diagnosis of trisomy 9. Six cases and a review of the literature
Authors: Saura R. , Traore W. , Taine L. , Wen Z. Q. , Roux D. , Maugey‐Laulom B. , Ruffie M. , Vergnaud A. , Horovitz J. 
Published: March 2007

AbstractSix prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.
A 10‐year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by fish analysis. Outcome and follow‐up of 14 cases diagnosed in a series of 12 699 prenatal samples
Authors: Brøndum‐Nielsen K. , Mikkelsen M. 
Published: March 2007

AbstractA cytogenetic survey and follow‐up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10‐year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring‐like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister‐Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow‐up, is essential for the purpose of improving genetic counselling.
Prenatal diagnosis of charcot‐marie‐tooth disease type 1a (CMT1A) using molecular genetic techniques
Authors: Navon R. , Timmerman V. , Löfgren A. , Liang P. , Nelis E. , Zeitune M. , Van Broeckhoven C. 
Published: March 2007

AbstractCharcot‐Marie‐Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42‐year‐old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication.
The time of appearance and disappearance of fetal DNA from the maternal circulation
Authors: Thomas M. R. , Tutschek B. , Frost A. , Rodeck C. H. , Yazdani N. , Craft I. , Williamson R. 
Published: March 2007

AbstractA single copy Y‐chromosome DNA sequence was amplified using the polymerase chain reaction (PCR) from the peripheral blood of 30 women who had achieved a pregnancy through an in vitro fertilization (IVF) programme. The time of conception was known precisely and was confirmed by serial ultrasound scans. Conceptions were dated as the number of weeks after fertilization plus 2, to give a time equivalent to the obstetric menstrual dating of the pregnancy (LMP). Y‐chromosome‐specific DNA was detected in all pregnancies with a male fetus (18/30). The earliest detection was at 4 weeks and 5 days, and the latest at 7 weeks and 1 day. Y‐chromosome‐specific sequences were no longer detected in any of the male pregnancies 8 weeks after delivery. No Y‐chromosome sequences were detected in any of the pregnancies where only female babies were delivered. This demonstrates that fetal DNA appears in the maternal circulation early in the first trimester, that it can be identified in all pregnancies tested by 7 weeks, that it continues to be present throughout pregnancy, and that it has been cleared from the maternal circulation 2 months after parturition. Early non‐invasive prenatal diagnosis for aneuploidies and inherited disorders will be possible in all pregnancies if fetal cells can be isolated free from maternal contamination (or identified accurately in the presence of maternal cells) without problems of contamination from previous pregnancies.