bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis in a female carrying a deletion close to the duchenne locus
Authors: Børresen A. L. , Boman H. , Møller P. , Berg K. 
Published: March 2007

AbstractFamily studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA anaylsis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome.
Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies
Authors: Manchester David K. , Pretorius Dolores H. , Avery Carol , Manco‐Johnson Michael L. , Wiggins James , Meier Paul R. , Clewell William H. 
Published: March 2007

AbstractReferral of pregnancies complicated by suspected fetal anomalies to level III perinatal centres for further evaluation and management is increasing as use of real‐time ultrasound spreads, but the sensitivity and specificity of the prenatal diagnoses made in this population are unknown. We undertook a prospective study that followed pregnancies referred to a designated programme dealing with suspected fetal abnormalities. Follow‐up of 257 pregnancies revealed that 282 separate anomalies were accurately diagnosed in 212 cases. Normal anatomy was correctly predicted in 42 cases, 16 per cent of the referred population. False‐positive and false‐negative rates were 1·5 per cent (4/257) and 2 per cent (1/46), respectively. However, 37 per cent of those infants born with anomalies had additional problems not prenatally detected by ultrasound. These results indicate that prenatal ultrasound diagnoses are remarkably accurate overall but that they may be insensitive to associated anomalies in individual cases.
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase
Authors: Chadefaux B. , Augereau C. , Rabier D. , Rocchiccioli F. , Boué J. , Oury J. F. , Kamoun P. 
Published: March 2007

AbstractPrenatal diagnosis of propionic acidemia was achieved by the direct assay of propionyl CoA carboxylase in chorionic villi. The diagnosis was confirmed by determination of methylcitrate in amniotic fluid and measurement of propionyl CoA carboxylase in the liver from the abortion. Discrepancy between [14C]‐propionate incorporation into protein of chorionic villi or cultured chorionic cells and propionyl CoA carboxylase activity is reported.
Prenatal ultrasound diagnosis of the Holt‐Oram syndrome
Authors: Brons J. T. J. , Van Geijn H. P. , Wladimiroff J. W. , van der Harten J. J. , Kwee M. L. , Sobotka‐Plojhar M. , Arts N. F. Th. 
Published: March 2007

AbstractThe Holt‐Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow‐up of two fetuses at risk for the Holt‐Oram syndrome. In the first fetus, the existence of Holt‐Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt‐Oram syndrome.
Microvillar enzyme assays in amniotic fluid and fetal tissues at different stages of development
Authors: Muller F. , Oury J. F. , Dumez Y. , Boué J. , Boué A. 
Published: March 2007

AbstractA systematic study of microvillar enzyme activities in the amniotic fluid in correlation with their values in different fetal tissues during development has been undertaken. Microvillar enzymes appeared in the amniotic fluid at the time of disappearance of the anal membrane, 12–13 weeks, and declined from the 18th week until the 24th week. The study of fetal tissues and fluids has shown that gamma‐glutamyltranspeptidase is mainly of liver origin. The significant decrease of the activities of these amniotic fluid enzymes has been the basis of prenatal diagnosis of cystic fibrosis. These assays may be useful for the diagnosis of certain digestive tract abnormalities at later stages of pregnancy.
First trimester prenatal diagnosis of Sandhoff's disease
Authors: Giles L. , Cooper A. , Fowler B. , Sardharwalla I. B. , Donnai P. 
Published: March 2007

AbstractChorionic villus sampling was performed on two patients with a previous family history of Sandhoff's disease. Total β‐hexosaminidase (Hex) activity in case 1 was within the normal range (case 1: 6365 μmol/h/g protein; control range: 3227‐24 495/miol/h/g protein). The β‐hexosaminidase isoenzyme pattern was found to be normal. These results were confirmed on cultured amniotic fluid cells. In case 2, the total Hex activity was 672 μmol/h/g protein, i.e., 7 per cent of the control mean (10 085 μmol/h/g protein), and chromatography demonstrated that more than 50 per cent of this activity was due to the abnormal isoenzyme β‐hexosaminidase S (Hex S). The fetus was predicted to be affected by Sandhoff's disease and this was confirmed on fetal tissues after termination of pregnancy. This study demonstrates that a fetus affected by Sandhof's disease can be reliably diagnosed during the first trimester of pregnancy.
Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis
Authors: Zerres K. , Hansmann M. , Mallmann R. , Gembruch U. 
Published: March 2007

AbstractAutosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sono‐graphic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.
Prenatal diagnosis of thalassemia: The viewpoint of patients
Authors: Schilirò Gino , Romeo Maria Antonietta , Mollica Florindo 
Published: March 2007

AbstractTwenty‐eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have undergone prenatal diagnosis and selective abortion. All but one refused the prospect of an affected child. When asked if they would have preferred that before their birth their parents had undergone prenatal diagnosis and abortion, 19 patients (68 per cent) gave an affirmative answer.These results clearly indicate that even people affected by thalassemia major, who are the potential victims of prenatal diagnosis and selective abortion, largely accept prenatal diagnosis as a means of preventing their disease.
Decision making during the prenatal diagnostic procedure. A questionnaire and interview study of 211 women participating in prenatal diagnosis
Authors: Sjögren Berit , Uddenberg Nils 
Published: March 2007

AbstractCounselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner's participation in the decision.A questionnaire and interview study was carried out among 211 women undergoing PND by amniocentesis or chorionic villus biopsy. Most women in the sample indicated that PND was completely voluntary. However, at the same time almost every woman reported that it was difficult to decline from PND when offered. Even before the visit to register at the antenatal clinic, most of the women (83 per cent) had made up their minds to have PND.At the time of the test, many of the participants (62 per cent) had decided in favour of a legal abortion if the test indicated an abnormality in the fetus. At the same time, however, the data indicate a need for reflection and ambivalence, which the medical staff have to accept.In the questionnaire most of the women stated that they and their partners had similar attitudes towards PND, but when interviewed 38 per cent of the women admitted some differences between their own attitudes and their partners'.Although some women reported considerable deliberation and ambivalence, most of them said that they would undergo PND in another pregnancy.
Single umbilical artery: Prenatal findings
Authors: Herrmann Uli J. , Sidiropoulos Dimitris 
Published: March 2007

AbstractIn 450 patients with pregnancy at high risk for fetal malformation and/or intrauterine growth retardation, the umbilical cord was investigated sonographically for the presence of a single umbilical artery. A single umbilical artery was diagnosed in four fetuses between 23 and 33 weeks of gestation and suspected in two. Three cases were overlooked at sonography. All seven surviving fetuses had growth retardation at delivery and four also showed severe malformations. Whenever a single umbilical artery is found at sonography, further work‐up is required to rule out associated anomalies, intrauterine growth retardation, or chromosomal abnormality.
Spontaneous resolution of a cystic hygroma in a fetus with Turner syndrome
Authors: Chodirker B. N. , Harman C. R. , Greenberg C. R. 
Published: March 2007

AbstractThe prenatal detection of a cystic hygroma (CH) in a fetus with a 45,X karyotype is described. The cystic hygroma underwent spontaneous resolution and a healthy baby with Turner syndrome was subsequently born. The implications for genetic counselling are discussed.
Prenatal diagnosis of carbamoyl‐phosphate synthetase deficiency by fetal liver biopsy
Authors: Sereni L. Piceni , Bachmann C. , Pfister U. , Buscaglia M. , Nicolini U. 
Published: March 2007

AbstractIn a pregnancy at risk for carbamoyl‐phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.
Fetal curarization for prenatal magnetic resonance imaging
Authors: Daffos F. , Forestier F. , Mac Aleese J. , Aufrant C. , Mandelbrot L. , Cabanis E. A. , Iba‐Zizen M. T. , Alfonso J. M. , Tamraz J. 
Published: March 2007

AbstractFetal magnetic resonance (MR) imaging was performed at 33 weeks of gestation for investigation of a posterior fossa abnormality found at ultrasound screening. Fetal movements were abolished by vecuronium injected under ultrasound guidance into the umbilical vein. MR images showed atrophy of the left cerebellar lobe with cisternal dilatation. These were confirmed postnatally by CT scan.
The prenatal determination of glucose‐6‐phosphatase activity by fetal liver biopsy
Authors: Golbus Mitchell S. , Simpson Thomas J. , Koresawa Mitsuhiko , Appelman Zvi , Alpers Charles E. 
Published: March 2007

AbstractTwo fetuses at risk for glucose‐6‐phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose‐6‐phosphatase deficiency.
XX/XY chimerism encountered during prenatal diagnosis
Authors: Freiberg A. S. , Blumberg B. , Lawce H. , Mann J. 
Published: March 2007

Abstract46,XX/46,XY chimerism has previously been reported in patients with abnormal sexual development, and rarely in otherwise normal individuals. We report the first postnatally documented prenatal diagnosis of whole‐body 46,XX/46,XY chimerism in humans, discovered by maternal age amniocentesis. The normal male phenotype in this child creates a dilemma in prenatal counselling, since genotypic male/female chimerism cannot be assumed to imply an abnormal sexual phenotype.
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy
Authors: Speer Marcy C. , Pericak‐Vance Margaret A. , Yamaoka Larry H. , Koh James , Hung Wu‐Yen , Gaskell Peter C. , Vance Jeffery M. , Bartlett Richard J. , Roses Allen D. 
Published: March 2007

AbstractAccurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.
Maternal serum thyroid antibodies in early pregnancy and fetal Down's syndrome
Authors: Cuckle Howard , Wald Nicholas , Stone Rossana , Densem James , Haddow James , Knight George 
Published: March 2007

AbstractThyroid antibodies were measured in mid‐trimester antenatal serum samples from 77 pregnancies affected by fetal Down's syndrome and 385 unaffected control pregnancies. Using a haemagglutination technique, thyroglobulin antibodies were detected in 5·2 per cent of cases (4) and 2·9 per cent of controls (11), and thyroid microsomal antibodies were detected in 22 per cent (17) and 15 per cent (59), respectively. Using an enzyme‐linked immunosorbent assay (ELISA) for thyroglobulin antibodies and a cut‐off level of 50 KIU/1, positive results were found in 25 per cent of cases (19) and 22 per cent of controls (84). Using an ELISA for thyroid microsomal antibodies and the same cut‐off level, the proportions were 52 per cent (40) and 39 per cent (149), respectively. While not statistically significant, the differences were consistent with the previously reported increased levels of thyroid antibody found in nonpregnant women who had had pregnancies associated with Down's syndrome.
Prenatal diagnosis of β‐thalassaemia by second‐trimester chorionic villus sampling
Authors: Monni Giovanni , Ibba Rosa Maria , Olla Giovanni , Rosatelll Cristina , Cao Antonio 
Published: March 2007

AbstractIn this study we evaluated the feasibility of second‐trimester transabdominal chorionic villus sampling for prenatal diagnosis of β‐thalassaemia in 80 pregnancies at risk presenting in the second trimester at the Antenatal Service.Sampling was carried out from 13 to 20 weeks and was successful in all cases. The amount of chorionic villi obtained varied from 10 to 40 mg, which was sufficient to make fetal diagnosis by oligonucleotide analysis within 10 days from sampling in all cases. No fetal losses occurred. From these results we conclude that transabdominal chorionic villus sampling is a useful procedure for prenatal diagnosis of β‐thalassaemia in those couples presenting after the first trimester.
Computer‐assisted analysis of fetal behavioural states
Authors: Rizzo G. , Arduini D. , Mancuso S. , Romanini C. 
Published: March 2007

AbstractA computerized system which simultaneously acquires and quantifies several ultrasonically detected fetal activities, including gross body movements, breathing movements, and eye movements, was developed in order to obtain additional quantitative data on fetal behaviour. Movements were automatically related to fetal heart rate allowing computation of their mean incidence, duration, lag time and percentage time spent moving during different heart rate patterns. The incidence of various behavioural states was also calculated. The study of 15 healthy fetuses near term revealed the existence of statistically significant differences in these parameters between low and high variability patterns of fetal heart rate suggesting a quantitative modulation of fetal movements by behavioural states.
Transabdominal chorionic villus sampling: Analysis of 350 consecutive cases
Authors: Bovicelli Luciano , Rizzo Nicola , Montacuti Vera , Morandi Raffaella , Vullo Calogero , Toffoli Cristina , Venturoli Anna 
Published: March 2007

AbstractWe report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound‐guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks. Twenty‐one pregnancies were selectively terminated; nine spontaneous abortions followed the procedure and one fetal loss after 28 weeks was recorded; 153 pregnancies are in progress and 169 delivered fetuses are alive and well. Transabdominal biopsy is a feasible and effective technique for CVS.
Altered fetal cardiac flow patterns in pure red cell anaemia (the Blackfan‐Diamond syndrome)
Authors: Visser G. H. A. , Desmedt M. C. H. , Meijboom E. J. 
Published: March 2007

AbstractIn a case of fetal anaemia due to pure red cell anaemia (Blackfan‐Diamond syndrome), two‐dimensional fetal Doppler echocardiography revealed an altered blood flow velocity pattern with entire incorporation of the atrial contraction component in the early passive filling phase of the right ventricle. Intracardiac blood velocities were increased, whereas cardiac output was only moderately increased. The fetal heart rate was normal. It is concluded that in fetal anaemia the compensatory mechanisms are limited and restricted to an increase in stroke volume. The hypothesis that chronic fetal anaemia is associated with ‘high output cardiac failure’ corresponds well with the present findings. The technique described may prove to be useful in the early diagnosis of fetal anaemia.
The distinction between arylsulphatases in chorionic villi
Authors: Diukman R. , Zeigler M. , Bach G. 
Published: March 2007

AbstractThe relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direct villi or the cultured villi cells. Interestingly, the activity of ASC differed significantly in cultured villi cells when prepared by two different methods, namely, minced villi versus treatment with trypsin and collagenase, while ASA and ASB were not affected by these treatments. Whether ASC was directly affected by one of these treatments or whether a selection of cells with different ASC levels was achieved is not yet clear, but this phenomenon clearly indicates the importance of precise definition of CVS preparations to correlate with the enzyme activity data.
Prenatal diagnosis of a rare heteropagus
Authors: Lituania M. , Cordone M. , Zampatti C. , Passamonti U. , Santi F. 
Published: March 2007

AbstractThe prenatal diagnosis by ultrasound of an unusual case of supernumerary head is reported. The problems of differential diagnosis, the pathological findings after voluntary interruption of the pregnancy, and the problems of obstetric management are presented.
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome
Authors: Stanley Wayne S. , Pai G. Shashidhar , Horger Edgar O. , Yongshan Yan , McNeal Karen S. 
Published: March 2007

AbstractPremature centromere separation (PCS) was detected in amniocytes after an amniocentesis was done because of markedly elevated maternal serum alpha‐fetoprotein values in a healthy primiparous young woman. PCS has been associated with the Roberts‐SC phocomelia syndrome (RS). By 23 weeks' gestation, ultrasonic evaluations did not reveal abnormal fetal development. The pregnancy continued and a male infant was born with mild manifestations of RS. PCS was confirmed in cord blood lymphocytes. This case illustrates that PCS, when detected in amniotic fluid cell cultures, requires a thorough evaluation.
Role of prenatal detection of cardiac tumours in the diagnosis of tuberous sclerosis—report of two cases
Authors: Chitayat D. , McGillivray B. C. , Diamant S. , Wittmann B. K. , Sandor G. G. S. 
Published: March 2007

AbstractTuberous sclerosis is an autosomal dominant disease with variable expression. Little is known about the intrauterine course of the disease and the fetal age at which specific abnormalities may be detected. The role of prenatal detection of cardiac tumours in the diagnosis of two fetuses at 28 and 32 weeks' gestation based on fetal echocardiography is discussed. The prenatal and postnatal course of the disease is described.
Circulating ‘trophoblast’ cells in pregnancy have maternal genetic markers
Authors: Bertero M. T. , Camaschella C. , Serra A. , Bergui L. , Caligaris‐Cappio F. 
Published: March 2007

AbstractA syncytiotrophoblast‐associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315+ cells and their use for prenatal diagnosis of β‐thalassaemia. H315 + cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible.