bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of fetal cells in transcervical samples and prenatal diagnosis of chromosomal abnormalities
Authors: Adinolfi Matteo , Sherlock Jon , Tutschek Boris , Halder Ashutosh , Delhanty Joy , Rodeck Charles 
Published: March 2007

AbstractTranscervical samples collected by lavage, aspiration, and cytobrush from women between 6 and 13 weeks of gestation were tested for the presence of fetal cells using fluorescence in situ hybridization (FISH) with probes for chromosomes X, Y, 1, and 21, and by polymerase chain reaction (PCR) amplification of DNA sequences derived from chromosomes X, Y, and 21. With a few exceptions, a good correlation was observed between the results of sexing the fetuses using FISH or PCR on transcervical cell (TCC) samples retrieved by lavage and those obtained by testing fetal (placental) tissue. In a comparative study between TCC samples collected by lavage or cytobrush, the sex of the fetus was correctly diagnosed by PCR amplification of a Y‐derived DNA sequence. Variable results were observed with samples obtained by aspiration, mainly because this procedure was found to be more prone to failure to remove thick mucus without previous injection of physiological saline. Chromosome 21‐derived small tandem repeats (STRs) of fetal origin were successfully detected in about 40 per cent of TCC samples recovered by lavage. Two cases of chromosomal abnormalities, one of trisomy 21 and one of triploidy, were detected in TCC samples in the course of our investigations.
Isolation of fetal cells from transcervical samples by micromanipulation: Molecular confirmation of their fetal origin and diagnosis of fetal aneuploidy
Authors: Tutschek Boris , Sherlock Jon , Halder Ashutosh , Delhanty Joy , Rodeck Charles , Adinolfi Matteo 
Published: March 2007

AbstractTranscervical cell (TCC) samples have been shown to contain fetal cells amenable to molecular analysis. However, the presence of ‘contaminating’ maternal cells limits their use for prenatal diagnoses. In this report we show that clumps of fetal cells can be isolated from transcervical samples by micromanipulation and tested by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Out of 129 clumps, isolated from mucus aspirates and transcervical lavages from 29 patients, 29 clumps from 11 patients were found to be exclusively of fetal origin as judged by the detection of chromosome 21‐specific polymorphic DNA markers and Y‐derived DNA sequences by PCR and FISH. One case of a male triploid fetus, diagnosed by the analysis of TCC samples obtained by mucus aspiration and lavage, was confirmed by testing clumps of cells isolated by micromanipulation.
Uterine cavity lavage: Adding fish to conventional cytogenetics for embryonic sexing and diagnosing common chromosomal aberrations
Authors: Ishai David , Amiel Aliza , Diukman Rony , Cogan Olga , Lichtenstein Zelda , Abramovici Haim , Fejgin Moshe D. 
Published: March 2007

AbstractThis study was undertaken to examine the efficacy for early prenatal diagnosis of uterine cavity lavage at the level of the internal os and to assess the rate of maternal contamination. In phase I, uterine cavity lavage was performed in 38 women scheduled for pregnancy termination between 6 and 12 weeks. In addition to short‐ and long‐term cultures, one‐colour FISH (fluorescence in situ hybridization) with Y and X probes was used for fetal sexing. Two‐colour FISH was used in all known male fetuses for the assessment of maternal contamination. In phase II, lavage was performed on 16 women. Fetal sex was diagnosed with direct labelled X and Y probes and common numerical chromosomal aberration was attempted with 18 and 21 direct labelled probes. Fetal sexing was successful in all cases in phases I and II. Out of 34 patients in which tissue was obtained, only FISH was done in six. Long‐term cell cultures were successful in the other 28 cases, but complete karyotyping in 19 (56 per cent). No chromosomal aberration was found with the direct labelled probes 18 and 21 in FISH. Maternal contamination was assessed to be 5–10 per cent. This simple and easy‐to‐master technique is very effective in obtaining fetal cells early in pregnancy for genetic diagnosis, especially by FISH. However, the safety of the procedure must be tested in ongoing pregnancies.
Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF–ET)
Authors: Veld P. A. In't , van Opstal D. , van den Berg C. , van Ooijen M. , Brandenburg H. , Pijpers L. , Jahoda M. G. J. , Stijnen Th. , Los F. J. 
Published: March 2007

AbstractWe studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF–ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal age) and time of sampling. A total of 252 IVF–ET fetuses were cytogenetically analysed by either chorionic villus sampling (CVS; n = 80) or amniocentesis (n = 172). Eleven chromosome abnormalities were found in the CVS group (13·8 per cent); among them, a 45, X/46, X, dic(q11)/46, X, del(Y)(q11) mosaic that was found in an IVF pregnancy established by intracytoplasmic sperm injection (ICSI), four cases of trisomy 21, and three cases of trisomy 7 confined to the placenta. The results indicate a statistically significant three‐to five‐fold increase in both confined placental abnormalities (P<0·008) and true fetal chromosome anomalies (P<0·04). In the amniocentesis group, identical rates (1·7 per cent) of chromosome abnormalities were found in the IVF–ET and control groups. It is concluded that late first trimester, but not early second trimester, IVF–ET pregnancies are characterized by an increased frequency of cytogenetic abnormalities found at prenatal diagnosis.
Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue‐non‐specific alkaline phosphatase isoenzyme gene mutations
Authors: Henthorn Paula S. , Whyte Michael P. 
Published: March 2007

AbstractWe successfully assessed a fetus at risk for lethal infantile hypophosphatasia using amniocyte DNA and allele‐specific oligonucleotide (ASO) probes for two missense mutations in the tissue‐non‐specific alkaline phosphatase isoenzyme (TNSALP) gene. The nucleotide changes had been discovered in a sister who died at 8 months of age from this inborn error of metabolism. The mother was known to carry the 747 (cDNA) G→A transition, whereas her husband and 5‐year‐old daughter, who were also healthy, carried the 1309 A→T transversion. Amniocytes, obtained at 16 weeks' gestation, provided genomic DNA for polymerase chain reaction (PCR) amplification of the appropriate TNSALP gene exons. ASO hybridization revealed absence of the 747A mutation and presence of the 1309T base change in the fetus, indicating a carrier for hypophosphatasia. At 8 months of age, the offspring was in excellent health and without any radiological evidence of skeletal disease. His serum ALP activity and plasma pyridoxal 5′‐phosphate level were decreased and increased, respectively, at levels consistent with the prenatal assessment. The ASO studies were confirmed postnatally using peripheral blood leukocyte DNA. This is the first application of direct mutational analysis to assess a fetus at risk for hypophosphatasia.
Elevated mid‐trimester hCG and maternal lupus anticoagulant
Authors: Clark Frank , Dickinson Jan E. , Walters Barry N. J. , Marshall Lorraine R. , O'Leary Peter C. 
Published: March 2007

AbstractAn association is described between women with lupus anticoagulant and abnormal prenatal serum screening results. Three cases of positive second‐trimester serum screening for Down syndrome, with karyotypically normal fetuses, in women demonstrated to have lupus anticoagulant are presented. Serum screening positivity was principally due to a disproportionately elevated maternal serum human chorionic gonadotrophin (hCG) level. In each case, early, severe intrauterine growth restriction was documented, with only one fetus surviving the neonatal period. As maternal lupus anticoagulant may have a profoundly adverse effect on the course of pregnancy, we suggest that an elevated hCG level on prenatal screening prompt consideration of maternal lupus anticoagulant testing if ultrasonography demonstrates an otherwise normal singleton gestation and the fetal karyotype is normal.
The preserving of chorionic villi before establishing long‐term cell cultures for cytogenetic analysis
Authors: Hansson K. , Schuring‐Blom G. H. , Leschot N. J. 
Published: March 2007

AbstractThe possibility of preserving intact chorionic villi in culture medium for up to 7 days before establishing long‐term cultures for prenatal chromosome analysis is demonstrated. The preserving itself had no negative effect on the growth capacity of the mesenchymal cells.
Prenatal detection of limb defects after chorionic villus sampling
Authors: Sheu Bor‐Ching , Shyu Ming‐Kwang , Tseng Li‐Hui , Lin Chi‐Jen , Hsieh Fon‐Jou 
Published: March 2007

AbstractPrenatal sonographic diagnoses of two cases of severe limb defects after first‐trimester chorionic villus sampling (CVS) are presented. Pathological examination after elective termination correlated well with the prenatal sonographic findings. Although the relationship between CVS and limb defects remains controversial, careful ultrasound examination for possible limb defects in cases receiving CVS is recommended.
Ultrasonography in pregnancy and fetal abnormalities: Screening or diagnostic test? IPIMC 1986–1990 register data
Authors: Baronciani Dante , Scaglia Chiara , Corchia Carlo , Torcetta Francesco , Mastroiacovo Pierpaolo 
Published: March 2007

AbstractThe aim of the present study was to assess the sensitivity of ultrasound diagnosis used as a screening test in detecting major congenital anomalies in the prenatal period in a large nation‐based multicentre setting. Data from the IPIMC register were collected in the period 1986–1990. One hundred and thirty‐five hospitals, located in 17 out of the 20 regions in Italy, participated in the register. Study cases were 3479 infants with major congenital anomalies diagnosed at birth or in the first week of life. Subjects with chromosomal anomalies or multiple defects were excluded. The sensitivity of ultrasound prenatal diagnosis was 49.5 per cent for central nervous system anomalies, 3.8 per cent for congenital heart diseases, 17.1 per cent for gastrointestinal tract defects, 46.6 per cent for abdominal wall defects, 74.8 per cent for urinary tract anomalies, and 22.9 per cent for skeletal abnormalities. The detection rate for diaphragmatic hernia was 24.2 per cent. Overall, only 18 per cent of the defects diagnosed in utero were detected before 24 weeks' gestation. The sensitivity of prenatal diagnosis was 30.1 and 19.0 per cent in the northern, central, and southern regions, respectively. In light of its low sensitivity, ultrasonography as a screening test in the general population should be abandoned, although some improvement in its performance should be expected following adequate training of the ultrasound staff and the use of good technical equipment.
Prevalence and clinical significance of anticardiolipin antibodies in pregnancies complicated by parvovirus B19 infection
Authors: Gratacós E. , Torres P. J. , Vidal J. , Font J. , Antolin E. , Cararach V. , Fortuny A. 
Published: March 2007

AbstractAnticardiolipin antibodies were measured in 60 pregnant women with acute parvovirus B19 infection. Test results for eight (13.3 per cent) women were positive for anticardiolipin antibody. Six of these eight women became negative later, yielding a prevalence of anticardiolipin antibodies of 3.3 per cent (2/60) 6 months after acute parvovirus B19 infection. Anticardiolipin antibody positivity was not associated with an increased risk of abortion, fetal death, or maternal complications. This study suggests that there is an elevated frequency of anticardiolipin antibodies in pregnant women with acute parvovirus B19, probably representing an epiphenomenon. However, this is not associated with an adverse maternal or perinatal outcome.
Immunohistochemical characterization of cells retrieved by transcervical sampling in early pregnancy
Authors: Bulmer Judith N. , Rodeck Charles , Adinolfi Matteo 
Published: March 2007

AbstractTrophoblastic cells can be retrieved from the endocervix and the lower uterine segment in early pregnancy by aspiration or lavage (Rodeck et al., 1995). The feasibility of using this technique for prenatal diagnosis depends on how frequently fetal cells can be retrieved and whether such cells can be purified from the predominant maternal cell population. In this study, specimens retrieved from the lower uterine segment prior to elective first‐trimester termination of pregnancy were examined histologically and characterized using a panel of monoclonal antibodies in an avidin‐biotin‐peroxidase technique. Lavage samples generally contained fewer cervical epithelial cells than aspirates. Syncytial fragments or cytotrophoblast were identified in 9 of 12 lavage samples but in only 4 of 10 aspirates. Trophoblast cells were reactive with various anti‐trophoblast monoclonal antibodies but the trophoblast cells present displayed considerable antigenic heterogeneity. For positive selection of trophoblast cells from these samples, it is likely that the best yield will be achieved by using a panel of carefully characterized monoclonal antibodies directed against various villous and extravillous trophoblast populations.
Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome
Authors: Los Frans J. , Van Opstal Diane , Schol Martin P. , Gaillard Johannes L. J. , Brandenburg Helen , Van Den Ouweland Ans M. W. , In 'T Veld Peter A. 
Published: March 2007

AbstractA prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well‐known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12‐centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p‐specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.
Prenatal diagnosis of acute bladder distension associated with fetal sacrococcygeal teratoma—a case report
Authors: Elchalal U. , Ben‐Shachar I. , Nadjari M. , Gross E. , Appleman Z. , Caspi B. 
Published: March 2007

AbstractA case report of sacrococcygeal teratoma prenatally diagnosed at 23 weeks of amenorrhea, subsequently causing dilatation of both lower and upper urinary tracts is presented. The importance of repeated ultrasonographic evaluation of fetuses with sacrococcygeal teratoma is discussed.
Paralytic ileus in a fetus–neonate after maternal intake of benzodiazepine
Authors: Haeusler Martin C. H. , Hoellwarth Michael E. , Holzer Peter 
Published: March 2007

AbstractParalytic ileus of the small bowel was diagnosed in a fetus at 32 weeks' gestation after referral because of polyhydramnios. The mother had taken clonazepam, a benzodiazepine, and carbamazepine during the entire pregnancy for epilepsy. All known causes for the ileus were ruled out and at 20 months the boy has developed normally. We conclude that maternal anticonvulsant drug intake was very likely the cause of the paralytic ileus. This side‐effect is known in experimental and clinical pharmacology but has not yet been described in human fetuses.
Prenatal diagnosis of marfan syndrome: Identification of a fibrillin‐1 mutation in chorionic villus sample
Authors: Rantamäki T. , Raghunath M. , Karttunen L. , Lönnqvist L. , Child A. , Peltonen L. 
Published: March 2007

AbstractMarfan syndrome (MFS) is one of the most common heritable connective tissue disorders and is caused by mutations in a gene coding for fibrillin‐1. All but one of over 30 published mutations have been unique and specific prenatal diagnostics can only be provided to families with a previously established mutation. We have earlier identified a 366 bp deletion of fibrillin mRNA in a three‐generation British Marfan family. An affected female in the family together with her husband sought prenatal diagnosis. Chorionic villus sampling was performed at 11.5 weeks of gestation and total RNA was directly extracted from the sample. After reverse transcription and polymerase chain reaction (PCR) of the cDNA, the same deletion was identified in the chorionic villus sample (CVS) and the mother's sample in agarose gel electrophoresis. The fetal origin of the CVS was confirmed with polymorphic markers. In addition to the mutation analysis, CVS cells of the proband and a control fetus were cultured for biochemical studies of fibrillin polypeptides. The results of the biochemical investigation were in concordance with the molecular analysis.
Prenatal molecular diagnosis of gaucher disease
Authors: Zimran A. , Elstein D. , Abrahamgv A. , Kuhl W. , Brown K. H. , Beutler E. 
Published: March 2007

AbstractPrenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available.
Prenatal screening for haemoglobin disorders
Authors: Petrou Mary , Modell Bernadette 
Published: March 2007

AbstractThe technology has been available to detect carriers of haemoglobin disorders since the late 1960s. Prenatal diagnosis has been available since 1978. First trimester diagnosis by chorionic villus sampling and DNA analysis was introduced in 1982, and subsequent simplifications in DNA technology have made screening, counselling and prenatal diagnosis cost‐effective at the community level, in countries at all levels of development.Audit of prenatal diagnosis for haemoglobin disorders in countries which have the resources and infrastructure necessary for genetic population screening (such as the UK and other European countries), has shown that the number of prenatal diagnoses actually performed fall far short of expectation. The demonstration that this reflects failures in delivering information, screening and counselling to the populations at risk, rather than rejection of prenatal diagnosis, shows the importance of placing more emphasis on the organisational and social requirements for genetic population screening.In some countries current attitudes towards abortion exclude provision of prenatal diagnosis within the health service, but in many such cases it has been set up in the private sector. It is also being introduced through combined private and charitable efforts in an increasing number of developing countries, including some with extremely limited health resources: such centres are likely to act as nuclei for emergence of genetics services in these communities. A particularly notable recent achievement is the introduction of prenatal diagnosis in Nigeria, where 1–2% of all children born suffer from sickling disorders.
Recurrent “cold abscesses” due to mycobacterium chelonei in a diabetic child
Authors: Mucklow E S 
Published: March 2007

AbstractThe case is reported of a 13 year old diabetic girl with recurrent “cold abscess” at the site of insulin injections in the thighs, from which Mycobacterium chelonei was grown. The possibility of contamination of injection sites from the skin is discussed, but the evidence is inconclusive.Although it is uncommon, the possibility of infection by atypical Mycobacterium should be kept in mind in patients who have repeated abscesses or suppurating glands, from which cultures for pyogenic organisms are sterile. The difficulty of growing such a fastidious micro‐organism is stressed, so that in many cases direct confirmation of the infection by culture is impossible, in which case indirect evidence from a PPDObranoble from Mycobacrerid Reference Loborarory, Cardiff.
skin test may be helpful.
King's fund centre award for non‐medical health professionals. for the best essay to be submitted to practical diabetes
Authors: Cannon W G 
Published: March 2007

AbstractThe Trustees of the King Edward's Hospital Fund for London are making an Award of £350 for the best essay relating to diabetes, by a non‐medical health professional, to be submitted to Practical Diabetes.The judges will be nominated jointly by the King's Fund and the Editorial Board of Practical Diabetes. The Award will be made in November 1985 and the winning essay will be published in the January 1986 issue of Practical Diabetes.In choosing the winning essay, particular emphasis will be placed by the judges on originality of subject and treatment, as well as the feasibility and significance for patient care of the contents.
Successful long‐term weight loss in Type II diabetics
Authors: Phillips Patricia , Park R , Slater S D 
Published: March 2007

AbstractWeight changes were examined in 200 Type II diabetics who had had the disorder for an average of 10 years and were on conventional carbohydrate restricted diets. At diagnosis, 30.5% were overweight, 49% of average weight, 6.5% at ideal weight and 14% were underweight. The corresponding figures at review were 14%, 56.5%, 9% and 20.5% respectively. Nearly all (88%) of the overweight patients lost weight, amounting to 10% or more of their original weight in 43% of them. Conventional dietary advice may be more effective in achieving long‐term weight loss than is generally believed.
What is happening to our diabetic patients? An audit of care in general practice
Authors: Fleming P Clare 
Published: March 2007

AbstractForty‐two diabetic patients from a group practice were studied. Information relevant to their diabetes was extracted from the medical records, a questionnaire interview was conducted and glycosylated haemoglobin measured. Diabetics were frequent attenders at the surgery but their follow‐up was haphazard and incomplete. Although patients had a generally poor understanding of diabetes, they were keen to learn more. Regular follow‐up by general practitioner would be preferred to hospital care, by three out of four patients. To provide this care, we need to combine a systematic approach with the long‐term encouragement of the diabetic person to play an active part in his own management.