bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization
Authors: Reeser Suzanne L. , Donnenfeld Alan E. , Miller Robert C. , Sellinger Beatrice S. , Emanuel Beverly S. , Driscoll Deborah A. 
Published: March 2007

AbstractCytogenetic studies of cultured amniocytes demonstrated a karyotype of 46, XX/47, XX,+mar. A bisatellited, dicentric, distamycin‐DAPI negative, NOR‐positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 a‐satellite probe and a chromosome 22‐specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.
Serum PAPP‐A and free β‐hCG are first‐trimester screening markers for down syndrome
Authors: Brambati B. , Tului L. , Bonacchi I. , Shrimanker K. , Suzuki Y. , Grudzinskas J. G. 
Published: March 2007

AbstractSerum measurements of pregnancy‐associated plasma protein A (PAPP‐A) and the free β‐human chorionic gonadotrophin (hCG) subunit were made in 13 women with Down syndrome (DS) pregnancies and six other women with fetal aneuploidy ascertained at chorionic villus sampling (CVS), as well as 89 women with contemporaneous normal control pregnancies. Median serum PAPP‐A measurements (0·31 MOM, 95 per cent confidence interval (CI) 0·22–0·65 vs. normal 1·06, 95 per cent CI 0·89–1·20) were lower and free β‐hCG subunit measurements (1·13 MOM, 95 per cent CI 0·93–2·63 vs. normal 0·91, 95 per cent CI 0·79–1·03) were higher at statistically significant levels. Receiver operator characteristic (ROC) curves showed that the highest sensitivity for detection, 71·2 per cent (95 per cent CI 54·7–87·6 per cent), was for depressed PAPP‐A levels; the combination of low serum PAPP‐A levels, maternal age, and elevated free β‐hCG levels yielded a detection rate of 78·9 per cent (95 per cent CI 64·9–92·8 per cent) of the affected pregnancies at 8–12 weeks' gestation.
Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: A prospective study
Authors: Spathas D. H. , Divane A. , Maniatis G. M. , Ferguson‐Smith M. E. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractA prospective study was undertaken to evaluate the use of fluorescence in situ hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells. Five hundred cases were analysed in situ and classified as normal or abnormal; the results were subsequently checked against the cytogenetic findings. Four hundred and ninety‐three were correctly identified as normal with an 86·6 per cent average frequency of scored nuclei exhibiting two signals; six cases were correctly identified as trisomic for chromosome 21 with 81·7 per cent of scored nuclei exhibiting three signals; and one abnormal case involving an unbalanced chromosome 21·21 translocation was falsely scored as normal due to poor hybridization/detection efficiency. The method has been substantially improved and simplified so that it is suitable for the rapid detection of trisomy 21. As aneuploidy detection in interphase does not identify structural chromosome aberrations, it is not a substitute for fetal chromosome analysis.
Accuracy of amniotic fluid testing before 21 weeks' gestation in prenatal diagnosis of congenital cytomegalovirus infection
Authors: Donner Catherine , Liesnard Corinne , Brancart Françoise , Rodesch Frederic 
Published: March 2007

AbstractCytomegalovirus (CMV) is the most common cause of intrauterine infection. Recent publications show amniocentesis to have an 81–100 per cent sensitivity in antenatal diagnosis after 21 weeks' gestation. Testing before 21 weeks' gestation is less well documented. We performed 36 amniocenteses between 14 and 20 weeks' gestation. The sensitivity was 45 per cent and the specificity 100 per cent. Implications and possible causes of this low sensitivity are discussed.
Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures
Authors: Howell R. T. , Davies Teresa 
Published: March 2007

AbstractCultures of a chorion biopsy taken from a pregnancy at risk of Bloom's syndrome revealed the high sister chromatid exchange frequency diagnostic of this rare disorder. To obtain the result, cultures were grown under standard conditions, with the addition of 10μM 5′;‐bromodeoxyuridine for the final 48 h of incubation. This result demonstrates the feasibility of early prenatal diagnosis of Bloom's syndrome.
The amplification refractory mutation system (ARMS): A rapid and direct prenatal diagnostic technique for β‐thalassaemia in Singapore
Authors: Tan J. A. M. A. , Tay J. S. H. , Lin L. I. , Kham S. K. Y. , Chia J. N. , Chin T. M. , Adb. Aziz Norkamar Bt. , Wong H. B. 
Published: March 2007

Abstractβ‐Thalassaemia major patients have chronic anaemia and since 3–4 per cent of Singaporeans carry the β‐gene, prenatal diagnosis is essential. We evaluated the amplification refractory mutation system (ARMS) technique as a routine test for prenatal diagnosis of β‐major. Six mutations along the β‐gene were studied—41–42 (‐TCTT), IVSII #654 (C‐T), 17β (A‐T), – 28 TATA (A‐G), IVSI #5 (G‐C), and IVSI #1 (G‐T). Our results indicate that prenatal diagnosis using these mutations can be offered to 90 per cent (35/39) of our Chinese couples and 54·6 per cent (12/22) of our Malay couples at risk. Confirmation of ARMS results was carried out using allele‐specific oligonucleotide hybridization. Prenatal diagnosis using ARMS was successfully carried out in nine cases which included a set of triplets and twins. The triplets were diagnosed with the β‐trait carrying the 41–42 mutation. The couple with twins possessed the #654 mutation and one twin was diagnosed with the β‐trait and the other with #654 homozygosity. Genomic sequencing of the undefined mutations in the Chinese couples revealed rarer mutations at − 29 and an ATG‐AGG base substitution at the initiation codon for translation. In the Malay couples, genomic sequencing detected mutations at codon 15 (TGG‐TAG) and codon 26 (GAG‐AAG). We conclude that ARMS with its direct detection of amplified products by gel electrophoresis provides an accurate, rapid, and simpler method for our β‐thalassaemia prenatal diagnosis programme in Singapore.
Measurement of fetal urine production in mild infantile polycystic kidney disease—A case report
Authors: Tsuda Hiroshi , Matsumoto Masahiko , Imanaka Motoharu , Ogita Sachio 
Published: March 2007

AbstractIt is generally recognized that the sonographic findings of infantile polycystic kidney disease (IPKD) are bilaterally enlarged kidneys, oligohydramnios, an absent fetal bladder, and the typical kidney texture. Since there is a broad spectrum of renal compromise with IPKD, in utero diagnosis is thought to be limited to the severe forms. This paper reports a mild case of IPKD, where the in utero diagnosis was established by measuring fetal urine production and amniotic fluid volume serially during pregnancy, and by ultrasonographic examination of fetal kidneys.
Intrauterine growth retardation and fetal transverse cerebellar diameter
Authors: Snijders Rosalinde J. M. , De Courcy‐Wheeler Richard H. B. , Nicolaides Kypros H. 
Published: March 2007

AbstractIn 103 small‐for‐gestational age (SGA) fetuses, the transverse cerebellar diameter (TCD), abdominal circumference (AC), head circumference (HC), and femur length (FL) were measured and their ratios calculated. In addition, umbilical venous blood samples were obtained by cordocentesis for measurements of fetal blood pH and erythroblast count. Compared with the AC, HC, and FL, the TCD was relatively mildly reduced. However, in the 28 fetuses with TCD >2 SDs (standard deviations) below the normal mean, the degrees of growth retardation, acidaemia, and erythroblastosis were more severe, and the incidence of perinatal death was higher than in the group with a normal sized TCD. Although in the group with TCD >2 SDs below the normal mean the TCD/AC ratio was increased, in the most severely growth‐retarded fetuses this ratio was usually within the normal range. Thus, in intrauterine growth retardation (IUGR), cerebellar size is reduced in proportion to the severity of the disease and therefore the TCD cannot be used to obtain reliable information on the gestational age of small fetuses and the TCD/AC ratio does not provide reliable information as to whether or not fetuses are growth‐retarded.
Enrichment of fetal cells from maternal blood by high gradient magnetic cell sorting (double MACS) for PCR‐based genetic analysis
Authors: Büsch J. , Huber P. , Pflüger E. , Miltenyi St. , Holtz J. , Radbruch A. 
Published: March 2007

AbstractFor simple and effective isolation of fetal cells from peripheral maternal blood, we combined depletion of maternal cells and enrichment of fetal cells by high‐gradient magnetic cell separation (MACS). First CD45+ and CD14+ cells were depleted from maternal peripheral blood mononuclear cells by MACS. From the depleted fraction, CD71+ erythroid cells were enriched up to 80 per cent by MACS. This ‘double‐MACS’ procedure yielded an average depletion rate of 780‐fold and an average enrichment rate of 500‐fold, with approximate recovery rates of 40–55 per cent. For paternity testing, cells from unseparated blood and the various fractions were analysed for polymorphism of the HLA‐DQ‐A1 locus and D1S80 locus by the polymerase chain reaction (PCR). In CD45−/CD71+ sorted cells from maternal blood, but not in unfractionated cells from maternal blood or CD45−/CD14− cells, paternal alleles could be detected. In the CD45−/CD71+ fraction, the relative frequency of paternal alleles compared with maternal alleles ranged from 1 in 20 to 1 in 200 (determined by titration and depending on the quality of separation and biological variation). In 7 out of 11 cases, between weeks 12 and 25 of gestation, we could identify paternal alleles by PCR, either HLA‐DQ‐A1 or D1S80. This double‐MACS procedure is simple, fast, efficient, and reliable for non‐invasive prenatal diagnosis.
Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis
Authors: Werner H. , Mirlesse V. , Jacquemard F. , Sonigo P. , Delezoide A. L. , Gonzales M. , Brunelle F. , Fermont L. , Daffos F. 
Published: March 2007

AbstractTuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings.
Early detection of abdominal pregnancy by maternal serum AFP+ screening
Authors: Bombard Allan T. , Nakagawa Sachiko , Runowicz Carolyn D. , Cohen Brian L. , Mikhail Magdy S. , Nitowsky Harold M. 
Published: March 2007

AbstractWe present two cases of abdominal pregnancy identified in our maternal serum screening programme—an additional, as yet unreported benefit of AFP+ (multiple analyte) maternal serum oncofetal antigen screening in pregnancy.
Gene therapy for cystic fibrosis: Will it affect the uptake of prenatal carrier screening?
Authors: Mennie M. E. , Compton M. E. , Liston W. A. , Brock D. J. H. 
Published: March 2007

AbstractWe report a study which examined whether the decision of 135 couples to accept prenatal cystic fibrosis (CF) carrier screening would be influenced by the advent of gene therapy. A majority (91 couples; 67 per cent) felt that gene therapy for CF would not influence their decision to be screened. Twenty‐two couples (16 per cent) stated that they would decline to be screened and an equal number felt ambivalent. Even if the life expectancy of a CF sufferer were increased by gene therapy to normal, 78 per cent of couples would still wish to avail themselves of prenatal carrier screening. A majority of women who decline screening do so because they are opposed to termination of pregnancy. The availability of gene therapy could increase the proportion of couples who accept screening.
Isolating fetal cells in maternal circulation for prenatal diagnosis
Authors: Simpson Joe Leigh , Elias Sherman 
Published: March 2007

AbstractFetal cells unequivocally exist in and can be isolated from maternal blood. Erythroblasts, trophoblasts, granulocytes and lymphocytes have all been isolated by various density gradient and flow sorting techniques. Chromosomal abnormalities detected on isolated fetal cells include trisomy 21, trisomy 18, Klinefelter syndrome (47,XXY) and 47,XYY. Polymerase chain reaction (PCR) technology has enabled the detection of fetal sex, Mendelian disorders (e.g. β‐globin mutations), HLA polymorphisms, and fetal Rhesus (D) blood type. The fetal cell type that has generated the most success is the nucleated erythrocyte; however, trophoblasts, lymphocytes and granulocytes are also considered to be present in maternal blood. Fetal cells circulate in maternal blood during the first and second trimesters, and their detection is probably not affected by Rh or ABO maternal‐fetal incompatibilities. Emphasis is now directed toward determining the most practical and efficacious manner for this technique to be applied to prenatal genetic diagnosis. Only upon completion of clinical evaluations could it be considered appropriate to offer this technology as an alternative to conventional invasive and non‐invasive methods of prenatal cytogenetic diagnosis.
Rapid prenatal diagnosis of 14 cases of triploidy using fish with multiple probes
Authors: Gersen Steven L. , Carelli Michael P. , Klinger Katherine W. , Ward Brian E. 
Published: March 2007

AbstractFluorescence in situ hybridization (FISH) of chromosome‐specific probes to interphase nuclei can rapidly identify aneuploidies in uncultured amniotic fluid cells. Using DNA probe sets specific for chromosomes 13, 18, 21, X, and Y, we have identified 14 fetuses where the hybridization pattern was consistent with a triploid chromosome constitution. In each case, the identification of fetal abnormalities by ultrasound examination initiated a request for rapid determination of ploidy status via prenatal FISH analysis of uncultured amniocytes. FISH produced a three‐signal pattern for the three autosomes in combination with signals indicating an XXX or XXY sex chromosome complement. This hybridization pattern was interpreted to be consistent with triploidy. Results were reported to the physician within 2 days of amniocentesis and subsequently confirmed by cytogenetics. These cases demonstrate the utility of FISH for rapid prenatal identification of triploidy, particularly when fetal abnormalities are seen with ultrasonographic examination.
Ultrasonographic scanning of placental thickness and the prenatal diagnosis of homozygous alpha‐thalassaemia 1 in the second trimester
Authors: Ko Tsang‐Ming , Tseng Li‐Hui , Hsu Pi‐Mei , Hwa Hsiao‐Lin , Lee Tzu‐Yao , Chuang Sou‐Ming 
Published: March 2007

AbstractIn order to evaluate the association between placental thickness (PT) and fetal homozygous alpha‐thalassaemia 1 before the appearance of classic ultrasound findings of haemoglobin (Hb) Bart's hydrops fetalis, a total of 473 pregnancies were collected. The control group included 422 normal pregnancies with a gestational age from 14 to 23 weeks and the study group included 51 affected fetuses in the same gestational period. Fetal biparietal diameter (BPD) and PT were measured by high‐resolution ultrasound. PT was evaluated against BPD. In the control group, the PT generally increased in parallel with the advancement of gestational age. All PT measurements in the study group were above the mean PT of their respective gestational week in the control group. Forty‐six (90 per cent) of the pregnancies in the study group had PT larger than the mean plus two standard deviations of the control group. This study suggests that ultrasound measurement of PT may be a useful aid in the prenatal diagnosis of Hb Bart's hydrops fetalis before its classic findings become apparent in the late second trimester or third trimester.
Molecular evidence of fetal‐derived chromosome 21 markers (STRs) in transcervical samples
Authors: Adinolfi Matteo , Sherlock Jon , Soothill Peter , Rodeck Charles 
Published: March 2007

AbstractTranscervical cells (TCCs), collected by flushing or aspiration at 8–13 weeks of gestation, were analysed for the presence of fetal‐derived DNA sequences. DNA extracted from maternal peripheral blood, TCC samples, and placental tissue was amplified by the polymerase chain reaction (PCR) to detect small tandem repeat (STR) markers specific to chromosome 21. STR products of fetal origin could be clearly observed in four TCC samples. TCC samples collected by flushing or aspiration were also analysed by fluorescent in situ hybridization (FISH) using X and Y probes simultaneously: 46,XY cells could be detected in all TCC samples obtained from mothers with male fetuses.
Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos
Authors: Harper Joyce C. , Coonen Edith , Handyside Alan H. , Winston Robert M. L. , Hopman Anton H. N. , Delhanty Joy D. A. 
Published: March 2007

AbstractWe have previously detected chromosome abnormalities in human embryos whilst identifying the sex for preimplantation diagnosis of X‐linked disease. In this study we assess the incidence of these abnormalities, both for sex chromosomes and autosomes 1 and 17, using dual fluorescent in situ hybridization (FISH). Sixty‐nine normally fertilized embryos of good morphology at the 6–10 cell stage (day 3 post‐insemination) were examined. The embryos were spread whole using HCl and Tween 20 to dissolve the cytoplasm. Thirty‐four embryos were analysed for the sex chromosomes and 35 for autosomes 1 and 17. All probes were directly labelled with fluorochromes allowing analysis in 2 h. Control lymphocytes demonstrated that the probes were of high specificity. For the sex chromosomes, five embryos were mosaic (15 per cent) with the remaining 29 being uniformly XX or XY. In no case was an XX nucleus found in an otherwise XY embryo, indicating that even though mosaicism for the sex chromosomes is present, such abnormalities would not lead to a misdiagnosis of sex. For the autosomes, 16 embryos were abnormal (46 per cent); one embryo was triploid, one was monosomic for chromosome 1, and ten others were diploid mosaics (three diploid/aneuploid, three diploid/polyploid, and four diploid/haploid). A further four embryos had variable chromosome numbers in the majority of nuclei which appeared to be the result of uncontrolled mitotic division. The presence of haploidy or double monosomy, which occurred in 15 per cent of nuclei, has important implications for the diagnosis of trisomies and dominant disorders.
Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations
Authors: van Opstal Diane , van den Berg Cardi , Jahoda Milena G. J. , Brandenburg Helen , Los Frans J. , Veld Peter A. In'T 
Published: March 2007

AbstractTrisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype. We performed, retrospectively, fluorescent in situ hybridization (FISH) with the chromosome 18 centromere probe (L1.84) on interphase nuclei of destained slides of all cases of full trisomy 18 (n=22) and mosaic trisomy 18 (n=8) detected among 7600 first‐trimester chorionic villus samples during an 8‐year period (1985–1992). More nuclei displaying three signals were encountered in cases of full and mosaic trisomy 18 confirmed in fetal tissue than in non‐confirmed cases. FISH can be useful for the verification of trisomy 18 in direct chorionic villus preparations.
Prenatal diagnosis of 46, XX/47, XXY mosaicism: A case report
Authors: Cheng Wen‐Fang , Huang Su‐Cheng , Ko Tsang‐Ming 
Published: March 2007

AbstractA case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remarkable findings except hypospadia. Histology of both gonads showed testicular tissue without evidence of ovarian components.
Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood
Authors: Gregersen Niels , Winter Vibeke , Jensen Peter K. A. , Holmskov Anni , Kølvraa Steen , Andresen Brage S. , Christensen Ernst , Bross Peter , Lundemose Jytte B. , Gregersen Markil 
Published: March 2007

AbstractMedium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease‐causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.
The influence of gravidity on Down's syndrome screening with free beta hCG
Authors: Spencer Kevin 
Published: March 2007

AbstractTotal human chorionic gonadotropin (hCG) levels have been shown in one previous small study to vary with gravidity. In order to establish if maternal serum free beta hCG was similarly affected, approximately 4500 pregnancies of varying gravidity were analysed. The results indicated that there was a 6 per cent higher median MOM in primigravid compared with multigravid women. The impact of such elevation in Down's syndrome screening programmes will be minimal.
An accessory marker derived from chromosome 20 and its co‐existence with a mosaic trisomy 20 cell line
Authors: Batista Denise A. S. , Escallon Cathleen , Blakemore Karin J. , Stetten Gail 
Published: March 2007

AbstractWe report a 16‐month‐old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.