bluuebunny/crossref_metadata_2025_split huggingface dataset:
The predictive value of cytogenetic diagnosis after CVS: 1500 cases
Authors: Breed A. S. P. M. , Mantingh A. , Beekhuis J. R. , Kloosterman M. D. , Bolscher H. Ten , Anders G. J. P. A. 
Published: March 2007

AbstractThe cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1·5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0·2 per cent in the last 500. In the remaining 1477 samples, 58 (3·9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue‐ and chromosome‐specific selection mechanism is postulated.
Robinow's syndrome: Prenatal diagnosis
Authors: Loverro G. , Guanti G. , Caruso G. , Selvaggi L. 
Published: March 2007

AbstractThe prenatal diagnosis of Robinow' s syndrome was accomplished in our case by measuring the length of the long bones and the ulna/humerus ratio. Although the prenatal sonographic appearance did not show the typical 8‐week fetal face, pathological findings confirmed this particular feature. In view of the strongly suggestive family history, the authors consider the possible mechanisms of genetic inheritance.
Early sonographic diagnosis of body stalk anomaly
Authors: Jauniaux Eric , Vyas Sanjay , Finlayson Caroline , Moscoso Gonzalo , Driver Marie , Campbell Stuart 
Published: March 2007

AbstractUltrasonographic features of a fetus at 18 weeks of gestation suggesting a body stalk anomaly are presented. These included a large abdominal anterior wall defect in apparent continuity with the placenta, severe kyphoscoliosis of the lower spine, the absence of one kidney, and a very short umbilical cord with only one umbilical artery. The amniotic fluid was reduced and the fetus was almost immobile at short‐interval ultrasound examinations. The pregnancy was terminated and autopsy of the fetus showed abnormalities compatible with maldevelopment of both cephalic and caudal embryonic folds.
A pitfall in the prenatal diagnosis of Lesch‐Nyhan syndrome by chorionic villus sampling
Authors: Page Theodore , Broock Robyn L. 
Published: March 2007

AbstractThe ratio of the activities of catabolic enzymes such as 5′‐nucleotidase and purine nucleoside phosphorylase to that of hypoxanthine‐guanine phosphoribosyltransferase (HPRT) may be much higher in frozen or cultured chorionic villus cells than in cultured amniotic fluid cells, cultured fibroblasts, or red blood cells. Consequently, unless these catabolic activities are controlled the observed activity of HPRT may be greatly decreased, and a false diagnosis of Lesch‐Nyhan syndrome may result. For a reliable diagnosis, the reaction products of HPRT must be protected from catabolism.
‘Late CVS’ international registry compilation of data from 24 centres
Authors: Holzgreve W. , Miny P. , Schloo R. 
Published: March 2007

AbstractData on 2058 late CVS cases, i.e., placental biopsies after 12 completed weeks of pregnancy, were collected from 24 centres. Two major groups of indications with or without ultrasound findings suspicious of fetal chromosomal abnormalities can be differentiated. In the first group, the rates of cytogenetic anomalies (21 per cent) and fetal losses (10 per cent) are high. The respective figures for the low‐risk group are 6 per cent for chromosome anomalies and 2 per cent for total fetal losses. To evaluate this rapidly spreading new method further, more data are required and will be collected by the CVS registry based in Philadelphia, U.S.A.
Prenatal detection of non‐cardiac rhabdomyosarcoma
Authors: Hart P. S. , Bodurtha J. , Redwine F. O. , Smeltzer J. S. , Kucera L. , McCall J. B. , Brown J. A. 
Published: March 2007

AbstractThe most prevalent soft tissue tumour in children is rhabdomyosarcoma. These tumours may develop within or outside of muscle anywhere in the body and at any age. We report what is apparently the earliest case of non‐cardiac rhabdomyosarcoma detected prenatally.
Fetal cystic hygromata: Insights gained from fetal blood sampling
Authors: Tannirandorn Yuen , Nicolini Umberto , Nicolaidis Peter C. , Fisk Nicholas M. , Arulkumaran Sabaratnam , Rodeck Charles H. 
Published: March 2007

AbstractTwelve second‐trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight often fetuses undergoing blood gas analysis showed hypoxaemia, five of which were growth‐retarded. Nine pregnancies were terminated. Of the remaining three, only one fetus survived the perinatal period.
Prenatal diagnosis of Conradi's syndrome. CASE REPORT
Authors: Tuck S. M. , Slack J. , Buckland G. 
Published: March 2007

AbstractA case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi‐Hünermann' s syndrome (asymmetrical rhizomelic limb shortening or chondro‐dysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed.
Prenatal diagnosis of a left ventricular aneurysm
Authors: Gembruch U. , Steil E. , Redel D. A. , Hansmann M. 
Published: March 2007

AbstractIn a fetus with ventricular extrasystoles a congenital aneurysm of the left ventricle was diagnosed prenatally. At 32 weeks of gestation, echocardiography showed a large apical left ventricular aneurysm with a thin, hypokinetic wall. Congestive heart failure did not occur. Prenatal and postnatal examinations did not detect the aetiology of the aneurysm, but excluded the majority of possible causes. The 2‐year‐old child is now asymptomatic and normally developed. Neither medication nor surgical treatment have been necessary, except for antithrombotic prophylaxis with low‐dose aspirin.
Prenatal diagnosis of aortic atresia by colour doppler flow mapping
Authors: Gembruch Ulrich , Chatterjee Molly , Bald Rainer , Eldering Gerd , Göcke Helga , Urban Andreas E. , Hansmann Manfred 
Published: March 2007

AbstractA case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascending aorta, (b) reverse flow of blood from the ductus arteriosus into the severely hypoplastic ascending aorta in the late systole, (c) pansystolic mitral valve regurgitation, and (d) absent flow across the foramen ovale as a result of premature closure of the foramen ovale.
Prenatal diagnosis of mucolipidosis type II on first‐trimester amniotic fluid
Authors: Poenaru Livia , Mezard Christine , Akli Said , Oury Jean‐François , Dumez Yves , Boue Joëlle 
Published: March 2007

AbstractWe investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk.Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17–week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy.
DNA polymorphism and globin chain analysis in the prenatal diagnosis of β‐thalassaemia major in Taiwan
Authors: Ko Tsang‐Ming , Hsieh Fon‐Jou , Lee Tzu‐Yao 
Published: March 2007

AbstractThirty‐six pregnancies in 25 families at risk of β‐thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the β‐globin gene cluster: ϵ‐HincII, Gγ‐HindIII, Aγ‐HindIII, Φβ‐HincII, 3′Φβ‐HincII, β‐AvaII, and 3′β BarnHI. β‐Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, β‐thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound‐guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea‐acetic acid‐Triton X‐100‐12 per cent polyacrylamide gel electrophoresis. β‐Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which β‐thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of β‐thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.
Patients' attitudes following chorionic villus sampling
Authors: McCormack Michael J. , Rylance Margaret E. , Mackenzie William E. , Newton John 
Published: March 2007

AbstractThe attitudes of 190 patients who had undergone chorionic villus sampling (CVS) were assessed by means of a questionnaire. One hundred and fifty‐two patients replied of whom 68 (45 per cent) were referred because of increased maternal age and in the other 84 cases the indications included previous chromosomal abnormalities, fetal sexing, DNA analysis, and biochemical analysis. One hundred and twenty‐two patients had a transcervical procedure, 24 had a transabdominal, and six patients required both procedures. One hundred and forty‐one patients (93 per cent) reported CVS to be a satisfactory procedure, and the same percentage thought earlier diagnosis was beneficial. Thirty‐nine patients (81 per cent) reported a better experience with CVS than with a previous amniocentesis. A majority of patients (93 per cent) wished a CVS in a future pregnancy and 137 patients (97 per cent) would accept a risk of miscarriage from the procedure of twice that quoted for amniocentesis (1 per cent).
Prenatal diagnosis of Löwe'S syndrome: A case report with evidence of de novo mutation
Authors: Gazit E. , Brand N. , Harel Y. , Lotan D. , Barkai G. 
Published: March 2007

AbstractA case of oculocerebrorenal (Löwe) syndrome is presented in which analysis of the pattern of RFLP suggested that the gene originally mutated in the grandfather' s X‐chromosome and became clinically apparent in one of his male grandsons.
Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future
Authors: Jakobs C. , Brink H. J. Ten , Stellaard F. 
Published: March 2007

AbstractAn attempt is made to summarize as completely as possible what is known about the prenatal diagnosis of amino– and organic acidurias by direct measurement of characteristic metabolites in amniotic fluid, and to indicate which disorders can potentially be diagnosed prenatally by direct quantitation of metabolites. Furthermore, the disorders are mentioned in which the prenatal diagnosis was proven to be unsuccessful by this approach. The prenatal diagnoses of a case of propionic acidemia and a case of tyrosinemia type I in the 11th and 12th week of gestational age, respectively, are reported and the prospects of performing amniocentesis in the first trimester for prenatal diagnosis are discussed.
Prenatal detection of an Arg→Ter mutation at codon 111 of the pah gene using DNA amplification
Authors: Huang Shu‐Zhen , Zhou Xia‐Di , Ren Zhao‐Rui , Zeng Yi‐Tao , Woo SavioL. C. 
Published: March 2007

AbstractA CGA→TGA mutation at codon 111 in exon 3 of the phenylalanine hydroxylase (PAH) gene was recently identified in a Chinese phenylketonuria (PKU) patient. This paper reports the prenatal diagnosis of a Chinese fetus at risk for PKU using DNA amplification with PCR and oligonucleotide hybridization. RFLP analysis revealed that the fetus had inherited a PKU gene from his mother, but his paternal PAH gene was uninformative. PCR amplification of 300 bp which included exon 3 plus the flanking intronic sequences of the PAH gene was performed. The amplified DNA was hybridized with a pair of allele‐specific oligonucleotide probes. The results indicated that the fetal DNA carried a PAH 111 Arg→Ter mutant gene inherited from his father. Thus, the fetus was predicted to be affected with PKU.
Exclusion of β‐thalassaemia by biopsy and DNA amplification in mouse pre‐embryos
Authors: Lindeman R. , Lutjen J. , O'Neill C. , Trent R. J. 
Published: March 2007

AbstractExclusion of β‐thalassaemia in mice was undertaken by pre‐implantation DNA diagnosis. Biopsies of approximately five cells were obtained from mouse pre‐embryos. DNA prepared from this material was amplified by the polymerase chain reaction (PCR), enabling identification of the normal β‐major globin gene in 11 out of 20 cases where it was known to be present. The expected negative result was obtained in 14 out of 16 homozygous thalassaemic embryos, with two false positives. Results are promptly available following PCR, thereby facilitating re‐implantation of embryos which have had homozygous β‐thalassaemia excluded. The mouse model illustrates a useful approach to pre‐implantation diagnosis of genetic disease in the human.
Transabdominal villus sampling in early second trimester: A safe sampling method for women of advanced age
Authors: Jahoda M. G. J. , Pijpers L. , Reuss A. , Brandenburg H. , Cohen‐Overbeek T. E. , Los F. J. , Sachs E. S. , Wladimiroff J. W. 
Published: March 2007

AbstractTransabdominal chorionic villus sampling (TA‐CVS) was performed in 707 viable singleton pregnancies to exclude chromosomal abnormalities. Maternal age ranged between 36 and 49 years (mean 37·9 years); gestational age varied between 10·2 and 18·3 weeks (mean 13·3 weeks). In 639 women (90·4 per cent), a sufficient amount of chorionic tissue (⩾ 10 mg) was obtained after one needle insertion; in 66 women (9·3 per cent) two insertions were needed. An abnormal chromosome pattern was established in 19 cases (2·9 per cent). Vaginal bleeding or spotting within 28 days after TA‐CVS occurred in 11 cases (1·5 per cent). The completed follow‐up of 678 chromosomally normal pregnancies showed an overall fetal loss rate of 2·6 per cent before 28 weeks. The overall perinatal mortality was 0·9 per cent. When relating fetal loss to gestational age at TA‐CVS, this was 6·6 per cent in women sampled before 12 weeks against only 1·8 per cent after 12 weeks. At the same time, the percentage of fetal loss occurring within 2 weeks following the procedure was 75 and 30 per cent, respectively. It is suggested that these data reflect the decline in spontaneous abortion rate during this particular period of pregnancy. It is concluded that TA‐CVS is an effective procedure which, when performed after the natural decrease of fetal loss, appears to be a safe option for women of advanced maternal age.
Socio‐cultural inequities in access to prenatal diagnosis: The role of insurance coverage and regulatory policies
Authors: Moatti J. P. , Le Gales C. , Julian C. , Durbec J. P. , Mattei J. F. , Ayme S. 
Published: March 2007

AbstractThe article presents the results of a 4‐month‐period survey by questionnaire among all women attending the Marseille Centre for Prenatal Diagnosis for amniocentesis. Socio‐cultural status of women getting access to amniocentesis is significantly higher than in the general population of pregnant women in the same geographic area of south‐eastern France. Sociocultural status is also higher among women who have to cover costs of procedure to get access to amniocentesis than among those who benefit from it free‐of‐charge according to French Social Security regulations. In contrast, risk perception and attitudes toward termination of pregnancy are similar in these two groups. A total of 24·4 per cent of respondents declared that they got access to amniocentesis ‘on their own initiative’, the remaining 75·6 per cent declaring that they ‘were following medical advice’. Multidimensional analysis shows that the women who do not benefit from free‐of‐charge amniocentesis, and who have a high level of education and no antecedents of fetal and perinatal deaths, are more likely to perceive themselves as ‘self‐referring’. The study indicates that institutional coverage may be effective in reducing socio‐cultural inequities in access to prenatal diagnosis. But such a policy may conflict with the respect of women' s individual autonomy in the amniocentesis decision.
Prenatal diagnosis and postnatal follow‐up of a child with two de novo unrelated balanced reciprocal translocations
Authors: Pruggmayer M. , Zoll B. , Leipoldt M. , Thies U. 
Published: March 2007

AbstractTwo unrelated, apparently balanced, reciprocal translocations involving chromosomes 3 and 17, and 10 and 15 were found in cultured amniotic fluid cells from a 41‐year‐old 10‐gravida. Chromosome analysis of peripheral blood lymphocytes of both parents revealed normal katryotypes. Post‐partum examination of lymphocyte cultures from the proband confirmed the chromosome rearrangements. The child showed normal development during follow‐up examinations up to the age of 4 years.
Immunocytochemical localization of peroxisomal β‐oxidation enzymes in human fetal liver
Authors: Espeel M. , Jauniaux E. , Hashimoto T. , Roels F. 
Published: March 2007

AbstractIn the majority of congenital peroxisomal disorders, β‐oxidation of very long chain fatty acids is deficient. We have investigated the appearance and localization of the three peroxisomal β‐oxidation enzymes in normal fetal liver (fertilization age between 5 and 18 weeks) with protein A‐ gold immunocytochemistry and silver enhancement for light microscopic visualization. With specificity‐tested polyclonal antibodies, acyl‐CoA‐oxidase, bifunctiooal enzyme, and 3‐oxoacyl‐CoA thiolase were localized in the peroxisomes of the parenchymal cells, which appear as brown or black granules. In the youngest specimen, no immunopositive reaction was obtained. A weak reaction with anti‐thiolase was obtained at the age of 6–7 weeks. At a fertilization age of 8 weeks, peroxisomes could be distinctly visualized after immunostaining for all three enzymes.From a staining series with anti‐thiolase on simultaneously treated slides, it appears that the amount of antigen per peroxisome and the organelle size increase between the seventh and eighteenth weeks. These data should enable a more specific diagnosis in fetal liver biopsies from pregnancies at risk and after termination of pregnancy.
Simultaneous placentacentesis and amniocentesis for prenatal karyotyping: Report on 250 cases
Authors: Gatz G. , Rauskolb R. , Werner L. , Gellert G. , Eiben B. , Bartels I. 
Published: March 2007

AbstractThe efficacy and risks of simultaneous transabdominal chorionic villus biopsy (placentacentesis) and amniocentesis in the second and third trimesters were evaluated in 250 singleton pregnancies. The major indications were advanced maternal age (36·0 per cent), abnormal ultrasound findings (23·2 per cent), and low maternal AFP value (17·6 per cent). Nine abnormal karyotypes were found in placental tissue (3·6 per cent). The karyotypes of placental and amniotic cells were different in three cases, including two cases of false‐positive mosaicism (08 per cent) and one case of a false‐negative result (0·4 per cent) obtained by placental karyotyping. The problem of discrepant karyotypes in embryonic and extra‐embryonic tissue does not seem to be restricted to the first trimester. The post‐procedure fetal loss rate was estimated as approximately 1·8 per cent. We conclude that the procedure presented here combines the advantages of rapid karyotyping (placentacentesis) and high diagnostic reliability (amniocentesis). It does not seem to be necessary to restrict its use to late presentations and suspicious ultrasound findings.
Megacystis‐microcolon‐intestinal hypoperistalsis syndrome in two male siblings
Authors: Carber Ann , Shohat Motti , Sarti Dennis 
Published: March 2007

AbstractTwo male sibs with severe congenital megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS) are presented. Both had enlarged bladder and hydronephrosis due to reduced bladder emptying, decreased bowel motility, and malrotation of the colon. Repeated careful ultrasound examination of the urinary tract in the second sib failed to show significant bladder enlargement prior to 25 weeks' gestation, which has been considered to be a reliable prenatal diagnostic sign for MMIHS. Slight bilateral enlargement of the renal pelves was noted at 21 weeks' gestation, and this may represent the earliest prenatally‐detectable observation in this disease. Although more females than males with this condition have been reported, our cases provide support for an autosomal recessive mode of inheritance with a similar recurrence risk for both sexes.
A single chorionic gonadotropin assay for maternal serum screening for Down's syndrome
Authors: Muller Françoise , Boué André 
Published: March 2007

AbstractA simple enzyme immunoassay measuring human chorionic gonadotropin in undiluted maternal serum has been developed in order to be used as a prenatal screening test for Down' s syndrome. A retrospective study of maternal serum sampled during pregnancies associated with trisomy 21 shows that with a 5% amniocentesis rate determined on a single test, the detection rate of trisomy 21 would be around two‐thirds of the affected pregnancies. A prospective study of 9040 pregnant women under 38 years has confirmed the usefulness of the assay.
SPONTANEOUS RESOLUTION OF CYSTIC HYGROMA IN A 46,XX NORMAL FEMALE
Authors: Baccichetti Carlo , Lenzini Elisabetta , Suma Vincenzo , Benini Franca , Marini Alberto 
Published: March 2007

AbstractWe report a case of nuchal cystic hygroma with spontaneous resolution detected by ultrasound examination at 13 weeks' gestation. Fetal karyotype and amniotic fluid alphafetoprotein levels were normal. Extreme caution in evaluating this situation is stressed.
The significance of trisomy 7 mosaicism in chorionic villus cultures
Authors: Reddy K. S. , Blakemore K. J. , Stetten G. , Corson V. 
Published: March 2007

AbstractTwo cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first‐trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the CVS were 46, XY. Culture metaphases were mos46,XY/47,XY, + 7; the trisomy 7 was seen in 34 per cent of cells from case 1 and 53 per cent from case 2. A sonogram at 151/2 weeks revealed fetal death in utero in case 1, and the patient declined amniocentesis. The fetal tissue failed to grow in culture, but the placental cultured cells were 47,XY, + 7 in 28 (100 per cent) cells analysed. In the second case, all the amniotic fluid cells were 46,XY and the pregnancy resulted in a normal male with a 46,XY karyotype in the cord blood and foreskin fibroblast cultures. The term placenta was mosaic with 13/163 (8 per cent) trisomy 7 cells. Extensive cytogenetic studies on the placenta for the first time confirmed trisomy 7 mosaicism confined to the villus cultures.