bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome
Authors: Labrune Ph. , Pons J. C. , Khalil M. , Mirlesse V. , Imbert M. C. , Odièvre M. , Daffos F. , Tchernia G. , Frydman R. 
Published: March 2007

AbstractThree fetuses with TAR (thrombocytopenia with absent radii) or TAR variant syndrome were found to be thrombocytopenic during the third trimester of the pregnancy. These findings indicate that fetal blood sampling, besides ultrasonography, skeletal radiographs, or even fetoscopy, may indeed contribute to the prenatal diagnosis of TAR syndrome, and thus may help in differentiating TAR syndrome from other syndromes with malformations of the upper limbs.
Maternal serum biochemical markers in pregnancies with fetal parvovirus B19 infection
Authors: Saller Devereux N. , Rogers Beverly Barton , Canick Jacob A. 
Published: March 2007

AbstractHydrops fetalis and fetal death caused by fetal parovirus B19 infection have been reported to be associated with elevated maternal serum alpha‐fetoprotein (AFP), based on a total of six cases. It has been suggested that the absence of AFP elevation may be reassuring. Maternal serum levels of the Down syndrome screening markers unconjugated oestriol and human chorionic gonadotropin in cases of fetal parvovirus infection have not been previously reported. We report four cases of hydrops fetalis and fetal death caused by fetal parvovirus infection, each with unremarkable second‐trimester levels of AFP, unconjugated oestriol, and human chorionic gonadotropin.
Follow‐up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling
Authors: Fryburg Julie S. , Dimaio Miriam S. , Yang‐Feng Teresa L. , Mahoney Maurice J. 
Published: March 2007

AbstractThirty‐nine (2.3 per cent) of 1724 chromosome studies from diagnostic chorionic villus samplings (CVS) done between 1983 and 1990 showed either level III (true) mosaicism (1.2 per cent) or level II (pseudo‐) mosaicism (1.1 per cent) for chromosomal aneuploidy. Follow‐up information on these 39 pregnancies was collected from questionnaires to families, paediatricians, and obstetricians. For all cases in which the pregnancy was continued and further testing was accomplished, the mosaicism was felt to be confined to the placenta. As compared with a control group of pregnancies evaluated by CVS with normal karyotypes, there was no increased incidence of pregnancy loss, congenital malformations, or developmental delay in the infants. Although intrauterine growth retardation occurred in several of the level III mosaic cases, adequate catch‐up growth has been demonstrated.
Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy
Authors: Savoldelli Guido , Binkert Franz , Achermann Josef , Schmid Werner 
Published: March 2007

AbstractFor the last 6 years, sonographic signs for excessive fluid accumulation in the backs of 10‐ to 12‐week‐old fetuses have been looked for prior to transabdominal chorionic biopsy. In 1400 pregnancies, subsequent karyotype analyses revealed 28 cases of Down syndrome. In 15 ( = 54 per cent), a large fluid cushion over most of the back had been documented at the time of biopsy. Only a few chromosomally normal fetuses with the same peculiarity were observed. The cushion was also present in fetuses with trisomies 18 and 13, and in Turner syndrome. Systematic first‐trimester screening for nuchal fluid accumulation seems to be a recommended method for the detection of Down syndrome and other chromosome anomalies in young pregnant women at low risk. It compares favourably with current methods of maternal serum screening performed at 16–18 weeks which require a higher number of invasive procedures.
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation
Authors: Soothill P. W. , Vuthiwong C. , Rees H. 
Published: March 2007

AbstractUltrasound examination at 12 weeks' gestation revealed severe generalised subcutaneous oedema in a pregnancy at risk for achondrogenesis type II. Transvaginal scanning confirmed the oedema and suggested abnormal limb development. The prenatal diagnosis was confirmed by X‐ray examination after transvaginal termination.
First report of prenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in a pregnancy at risk
Authors: Perez‐Cerda C. , Merinero B. , Jimenez A. , García M. J. , Sanz P. , Ulst L. , Wanders R. J. A. , Ugarte M. 
Published: March 2007

AbstractPrenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase (3‐HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells.
The diagnostic potential of fetal renal biopsy
Authors: Greco P. , Loverro G. , Caruso G. , Clemente R. , Selvaggi L. 
Published: March 2007

AbstractThe feasibility of fetal renal biopsy has been investigated in order to assess the diagnostic value of the histological specimen. Two fetuses with a severe bilateral renal abnormality (multicystic dysplastic kidney, Meckel‐Gruber syndrome with polycystic kidney) and one fetus with Down syndrome (no detectable structural anomaly) were sampled. Histological findings in the biopsy specimens of cases 1 and 2 were diagnostic of an early obstructive renal disease. In case 3, the findings were consistent with normal development for gestational age of the kidney. Fetal renal biopsy is technically feasible; histological examination of the samples showed a good correlation with postnatal findings. Further studies of its diagnostic value are required.
First‐trimester maternal serum schwangerschafts protein 1 (SP1) in pregnancies associated with chromosomal anomalies
Authors: Macintosh M. C. M. , Brambati B. , Chard T. , Grudzinskas J. G. 
Published: March 2007

AbstractThe relationship between first‐trimester maternal serum Schwangerschafts protein 1 (SP1) and the karyotype of the pregnancy was examined in 692 women who underwent chorionic villus biopsy at 6–12 weeks. There were 30 pregnancies with abnormal karyotypes, consisting of 14 Down's syndrome (DS), eight trisomy 18, and eight other anomalies, two of which were mosaics. The normal ranges and medians for gestation were defined from the 662 cases in which the karyotype was normal. The median SP1 (0·5 MOM) of the abnormal group was significantly lower than that of the normal group (10 MOM). This relationship was maintained for the DS pregnancies (0·4 MOM) and for anomalies other than trisomy 18 (0·43 MOM) but not trisomy 18 (1·1 MOM). It is possible that the use of SP1 as a screening test for chromosome anomalies in the first trimester could have a 43 per cent detection rate for a 5 per cent false‐positive rate.
A rare inherited euchromatic heteromorphism on chromosome 1
Authors: Zaslav A. L. , Blumenthal D. , Fox J. E. , Thomson K. A. , Segraves R. , Weinstein M. E. 
Published: March 2007

AbstractExtra genetic material that is euchromatic is generally regarded to be associated with phenotypic abnormalities. However, recent studies suggest that this is not always the case. Chromosome analysis was performed on amniotic fluid cells from a 37‐year‐old phenotypi‐cally normal patient referred for advanced maternal age. All the cells analysed showed a karyotype of 46, XY, 1p‐K The 1p+ chromosome had extra genetic material of uncertain origin in chromosome band region 1p21 →31. Chromosome analysis on the father revealed a normal 46, XY male karyotype. The mother's karyotype showed the same 1p+ chromosome. C and Q banding, as well as silver staining studies, in both the mother and the fetus support the interpretation that the extra chromosomal material was euchromatic in nature. This 1p + chromosome may be characterized as a euchromatic heteromorphism. Euchromatic hetero‐morphisms not associated with phenotypic abnormalities have been reported for chromosomes 9 and 16. To the best of our knowledge, this is the first report involving this type of cytogenetic anomaly on chromosome number 1 in a phenotypically normal mother and infant.
Prenatal diagnosis by in situ hybridization on uncultured amniocytes: Reduced sensitivity and potential risk of misdiagnosis in blood‐stained samples
Authors: Christensen Britta , Bryndorf Thue , Philip John , Xiang Yang , Hansen Winnie 
Published: March 2007

AbstractMaternal cell contamination was assessed in 18 macroscopically blood‐stained amniotic fluid samples from male fetuses. The samples were analysed by double‐target fluorescent in situ hybridization (ISH) with Y and X chromosome‐specific probes. The only sample with an aberrant karyotype (47, XY, +18) was also analysed by hybridization with a chromosome 18‐specific probe. An interpretation of extensive maternal cell contamination was made in two samples, one of which was the sample with trisomy 18. ISH with the chromosome 18‐specific probe on this latter sample showed that the sensitivity of the ISH method for chromosome enumeration of uncultured amniotic fluid samples may be reduced in bloodstained samples. It was calculated that by using ISH for chromosome enumeration of the two extensively contaminated samples, a case of trisomy 21 might have been overlooked in both samples, while a case of trisomy 18 might only have been overlooked in one of the samples. It is concluded that ISH should not be used for chromosome enumeration of uncultured amniotic fluid samples that are macroscopically blood‐stained without further technical developments.
Serum PAPP‐A levels are depressed in women with fetal Down syndrome in early pregnancy
Authors: Muller F. , Cuckle H. , Teisner B. , Grudzinskas J. G. 
Published: March 2007

AbstractThe value of maternal serum pregnancy‐associated plasma protein (PAPP)‐A in screening for Down syndrome in early pregnancy was assessed using stored samples. Seventeen cases of Down syndrome and 66 unaffected control pregnancies were studied. The median PAPP‐A level in the cases was 0.42 multiples of the expected value in controls (p <0.0001). Eleven cases (65 per cent) had levels less than half the expected value compared with only six controls (9 per cent). A commercial assay kit is now needed so that prospective screening with this marker can begin.
46,XY/47,XY,+ 17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype
Authors: Kingston Helen M. , Nicolini Umberto , Haslam John , Andrews Tony 
Published: March 2007

Abstract46,XY/47,XY, + 17p + mosaicism was found in two primary amniotic fluid cultures (AFCs). Fetal blood karyotype was normal, but ultrasonography revealed Dandy‐Walker malformation and bilateral choroid plexus cysts. Following termination of pregnancy, fetal examination revealed post‐axial polydactyly and neuroblastoma‐in‐situ affecting both adrenals in addition to the cerebellar abnormalities. Mosaicism for the aberrant cell line was confirmed in all fetal tissues sampled and in the placenta.
Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: Experience on the acceptance of linkage analyses by the families
Authors: Huschenbett J. , Hanke R. , Pfeifer L. , Speer A. 
Published: March 2007

AbstractThe acute form of proximal spinal muscular atrophy (SMA) is a severe autosomal recessive inherited neuromuscular disorder. It has been mapped to chromosome 5q 11.2‐13.3. Using restriction fragment length polymorphisms (RFLPs) or (CA)n repeats of DNA probes in this region, prenatal diagnosis is, in principle, possible. Misdiagnosis can be due to incorrect diagnosis in the index patient, and crossing‐over events. Using the DNA probes D5S6, D5S112, D5S39, and D5S78, we cover a region of 10.4 mega‐base pairs (Mbp) of partially NotI‐digested genomic DNA without overlap of fragments. The DNA probes D5S6 and D5S112, most likely flanking the SMA gene, cover a distance of about 6.6 Mbp. This corresponds to the genetic distance of 6 cM (Morrison et al., 1992; Daniels et al., 1992). But since the precise localization of the SMA gene is still unknown (Simard et al., 1992), a 10 per cent risk of misdiagnoses due to crossing‐over events cannot be excluded. The acceptance of this 10 per cent risk for prenatal diagnoses differs in SMA families. We observed a case in which a woman accepted a 25 per cent risk because RFLPs and (CA)n repeats were both uninformative. In contrast, another family did not accept the minimal 10 per cent risk and the pregnancy was terminated. In two families, we performed prenatal diagnosis by linkage analysis. One child predicted to be healthy has been born in the meantime and has shown no indication of SMA during her first 8 months.
Successful DNA‐based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis
Authors: Uvebrant Paul , Björck Eva , Conradi Nils , Hökegård Klas‐Henry , Martinsson Tommy , Wahlström Jan 
Published: March 2007

AbstractA family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52‐94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing‐over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA‐based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.
Fluorescent in situ hybridization (FISH): A new application in the delineation of true vs. pseudomosaicism in prenatal diagnosis
Authors: Schwartz Stuart , Leana‐Cox Julie 
Published: March 2007

AbstractMetaphase chromosomes and interphase nuclei from nine amniotic fluid cultures were studied with fluorescence in situ hybridization (FISH). The samples were initially analyzed with routine G‐banding and were diagnosed as having true mosaicism (five patients) or pseudomosaicism (four patients). In our study, FISH analysis could provide additional information to distinguish pseudo– from true mosaicism by allowing interphase studies and analysis of an increased number of metaphase spreads. These results suggest a multilinear origin of ‘in situ’ colonies of cells.
Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization
Authors: Schuring‐Blom G. H. , Keuzer M. , Jakobs M. E. , van den Brande D. M. , Visser H. M. , Wiegant J. , Hoovers J. M. N. , Leschot N. J. 
Published: March 2007

AbstractIn first‐trimester chorionic villus sampling (CVS) for prenatal diagnosis, abnormal chromosomal findings, such as mosaicism, trisomies, or suspect abnormal karyotypes, are found more frequently than at amniocentesis. The fact that these chromosomal abnormalities do not always reflect the fetal karyotype but may be restricted to the placenta is a major problem in diagnosis and counselling. In this paper we present the results of fluorescence in situ hybridization (FISH) studies on interphase nuclei of three term placentae investigated because of false‐positive findings at first‐trimester CVS. The chorionic villi of the first case showed a mosaic chromosome pattern involving a trisomy 10 cell line and a normal cell line, those of the second case a total trisomy 8 cell line, while in the third case a complete monosomy X was found. Follow‐up amniocentesis in each of these three cases revealed a normal karyotype. By using FISH, we were able to confirm the presence of the aberrant cell lines, which were all confined to one part of the placenta. FISH on interphase nuclei allows the investigation of large numbers of cells for the existence of numerical chromosome aberrations in a quick and reliable way.
Is selective abortion for a genetic disease an issue for the medical profession? A comparative study of Quebec and France
Authors: Renaud M. , Bouchard L. , Kremp O. , Dallaire L. , Labadie J. F. , Bisson J. , Trugeon A. 
Published: March 2007

AbstractThis article discusses the results of a study of the stand and attitudes of physicians from the Picardie, Nord‐Pas‐de‐Calais region in France and the province of Quebec (Canada) regarding abortion following the diagnosis of a fetal anomaly by ultrasound, amniocentesis, or chorionic villus sampling. The study examined the degree of acceptability of abortion for several specific conditions as well as the physicians' perceptions of their role in the women's decision to abort. The study shows a consensus (over 75 per cent of the physicians surveyed) for aborting a fetus with trisomy 21. There is a similar consensus, except among Francophones in Quebec, for muscular dystrophy, cystic fibrosis, and Huntington disease. Conversely, there is no consensus (below 60 per cent) for several anomalies. In these cases, Quebec Anglophone physicians find abortion more acceptable than Quebec Francophone or French physicians. Concerning the role of the practitioners in the decision to abort, physicians in France tend to be much more directive than their overseas colleagues. Several hypotheses are suggested to explain the difference between the three groups surveyed.
Attitudes toward abortion for fetal anomaly in the second vs. the third trimester: A survey of Parisian obstetricians
Authors: Geller Gail , Tambor Ellen S. , Papiernik Emile 
Published: March 2007

AbstractCross‐cultural differences exist in prenatal diagnosis and abortion for fetal anomaly, stemming from variations in laws, reimbursement policies, litigation, physicians' decision‐making authority, and attitudes toward the prevention of handicaps. The first part of this paper discusses such differences in France and the U.S. The second part describes a survey of practising obstetricians in Paris, designed to assess (1) their attitudes toward pregnancy termination for various conditions, (2) their concern about fetal viability, (3) their desire for diagnostic certainty before justifying a late abortion, and (4) their perceived role in such decision‐making. Among the 64.8 per cent (N = 217) who responded, the majority supported third‐trimester termination (TTT) for diseases such as spina bifida, trisomy 21, microcephaly, and Duchenne muscular dystrophy; 30–59 per cent supported TTT for cystic fibrosis and sickle cell disease; and 22–29 per cent supported TTT for haemophilia, tetralogy of Fallot, limb amputation, and Turner and Klinefelter syndromes. Obstetricians who approved of abortion across trimesters were less concerned with the certainty of diagnosis than its severity, more likely to think that abortion ought to be the parents' choice, but more likely to report making a recommendation to the parents about whether to abort a fetus. Such permissive abortion attitudes might imply more permissive prenatal diagnosis and abortion practice among Parisian obstetricians, which might lead to increased migration of patients from other E.C. countries. Cross‐cultural variation in obstetric practice suggests that an international registry of pregnancies terminated for medical reasons, enabling further study of this issue, would be valuable.
Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies
Authors: Smidt‐Jensen Steen , Lind Anne‐Marie , Permin Michael , Zachary Julia M. , Lundsteen Claes , Philip John 
Published: March 2007

AbstractWe report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcervical (TC) CVS as randomized. More abnormalities and more ambiguous diagnostic problems were found in placental tissues than in amniotic cells. There were no diagnostic errors and no incorrect sex predictions. Mosaicism was detected in 1 per cent of all cases of CVS (discordancies included). When confirmation studies were done, 90 per cent were found to be confined to the placenta. Eight cases (0.7 per cent) of mosaicism/pseudomosaicism were seen in amniotic fluid specimens, and two cases of five with confirmation studies were confirmed in the fetus. The rate of mosaicism/pseudomosaicism in CVS and AC specimens differed (P <0.05). The rate of pseudomosaicism in cultures of villi and amniotic fluid cells was 0.5 and 0.6 per cent, respectively. Single‐cell aneuploidy was observed in 1.8 per cent of villi and 1.4 per cent of amniotic fluid cell specimens. Maternal cell contamination (MCC) was seen more often after TC sampling (4.5 per cent) compared with TA sampling (1.5 per cent), but posed no problems in interpretation. Compared with the processing of cultured specimens, the short‐term method of preparation of villi in our laboratory doubled the technicians' workload. For practical and economic reasons we have ceased the routine use of short‐term preparations.
Measurement of the fetal mandible—feasibility and construction of a centile chart
Authors: Chitty Lyn S. , Campbell Stuart , Altman Douglas G. 
Published: March 2007

AbstractThe prenatal diagnosis of micrognathia is usually based on a subjective impression of the size of the jaw when examining the fetal profile. We have constructed a centile chart for mandibular length between 12 and 27 post‐menstrual weeks in a cross‐sectional study of 184 fetuses. The application of this chart in clinical practice may permit a more objective diagnosis of micrognathia in the prenatal period.
Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum
Authors: Wilton S. D. , Goldblatt J. , Laing N. G. 
Published: March 2007

AbstractThe polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.