bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of transcervical chorionic villus sampling with a completed follow‐up of 1550 consecutive pregnancies
Authors: Jahoda M. G. J. , Pijpers L. , Reuss A. , Los F. J. , Wladimiroff J. W. , Sachs E. S. 
Published: March 2007

AbstractData from 1550 consecutive pregnancies after first‐trimester prenatal diagnosis by transcervical chorionic villus sampling (TC‐CVS) are presented. The sampling efficacy was 97.8 per cent; the mean amount of collected villus tissue was 23 mg (range 5–100 mg). There were 97 affected fetuses, mainly (73.2 per cent) with a chromosomal abnormality or a male karyotype in carriers of X‐linked disease. Pregnancy termination in these and four other women for social reasons resulted in 1449 continuing pregnancies. In these pregnancies, the fetal loss rate up to 28 weeks of gestation was 5.1 per cent with the highest loss rate (3.9 per cent) before 16 weeks. When relating this fetal loss rate to maternal age, this was 6.1 per cent in the advanced maternal age group (⩾36 years) against 3.1 per cent in the younger age group. In 1376 pregnancies continuing beyond 28 weeks, the perinatal mortality rate was 1.1 per cent; the percentage of non‐genetic congenital anomalies was 0.9 per cent.The reproductive pattern of women at high genetic risk after CVS followed by pregnancy termination was evaluated. Within 12 months after the first CVS followed by pregnancy termination, 70 percent of women again requested CVS in a subsequent pregnancy.
Chromosome mosaicism of the placenta—a cause of developmental failure of the fetus?
Authors: Schwinger E. , Seidl Esther , Klink F. , Rehder Helga 
Published: March 2007

AbstractFourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clinical data indicate that severe developmental retardation in the newborn is not to be expected if only the placenta carries the chromosomally abnormal cell line.
Subarachnoid cyst with hydrocephalus–a complication of mid‐trimester amniocentesis
Authors: Chong S. K. F. , Levitt G. A. , Lawson J. , Lloyd U. , Newman C. G. H. 
Published: March 2007

AbstractWe report a child with a subarachnoid cyst with hydrocephalus following a mid‐trimester amniocentesis. Although fetal trauma is a rare complication, it is important to stress the need to perform amniocentesis under ultrasound control. Children with neurological disease or convulsions of unknown origin in early infancy who are born to mothers who have had midtrimester amniocentesis should have a CT scan as part of the investigations to exclude this rare but nevertheless important complication.
Anhydramnios and cessation of fetal growth in a pregnant mother with polychemotherapy during the second trimester
Authors: Fernandez Hervé , Diallo Alpha , Baume Daniel , Papiernik Emile 
Published: March 2007

AbstractThis paper discusses the case of a pregnant woman with polychemotherapy during the second trimester of pregnancy for rhabdomyosarcoma of the face and cessation of fetal growth with disappearance of amniotic fluid after the first course of therapy.
Pure fetal blood samples obtained by cordocentesis: Technical aspects of 322 cases
Authors: Boulot P. , Deschamps F. , Lefort G. , Sarda P. , Mares P. , Hedon B. , Laffargue F. , Viala J. L. 
Published: March 2007

AbstractThree hundred and twenty‐two percutaneous umbilical blood samplings were performed over 4 years in our prenatal diagnostic centre. A 3·5 MHz sector ultrasound transducer was used to guide a 22·5‐gauge needle under local anaesthesia. Sampling was performed fcir rapid fetal karyotyping (within 72 h) in 120 cases, for diagnosis of fetal toxoplasmosis in 133 cases, for determination of the severity of Rh immunization in 15 cases, and for diagnosis of congenital rubella in 4 cases. Pure fetal blood was obtained in 98·7 per cent of the cases after two attempts. The approach to the cord was either transamniotic or trans‐piacental. Puncturing was preferentially done at the placental insertion of the cord (72·2 per cent of the cases) and the mean blood sample volume was 3·5 ml. The rate of fetal death in utero was 1 9 per cent, including two cases of amnionitis, one trisomy 18, and one severe bradycardia. The failures were due to sampling at an early stage of pregnancy (before gestation week 18), to maternal obesity, oligohydramnios, and the inexperience of the operator.
Prenatal diagnosis for psychological reasons: Comparison with other indications, advanced maternal age and known genetic risk
Authors: Sjögren Berit , Uddenberg Nils 
Published: March 2007

AbstractIn Sweden, about 20 per cent of women undergoing prenatal diagnosis (PND) have the test for‘psychological reasons’, which means that they strongly fear giving birth to a disabled child, but have not reached the age limit. Women undergoing amniocentesis or chorionic villus biopsy for these reasons (n = 38) were studied by questionnaires with regard to distress during test procedures. They were compared to women examined because of a known or strongly suspected high risk of giving birth to a congenitally disabled child (n = 27) and to women examined because of an age more than 37 years (n = 144). The most distressed were women who had a high genetic risk. The women who had the test because of their age reported less distress. Women examined for psychological reasons, were moderately distressed, but reported the highest frequency of influence by the distress on their daily living. Women in all groups, however, felt a similar support by the normal test result and reported the whole procedure as rather easy. Different psychological determinants of anxiety of giving birth to a disabled child are discussed. The‘psychological indication’ for PND means that the women' s private interpretation of her risk, and not only the statistical limit, motivates PND.
Sister chromatid exchanges in first‐trimester chorionic villi after in vivo and in vitro exposure to diagnostic ultrasound
Authors: Carrera Paola , Orsini Silvano , Terzoli Gianluigi , Brambati Bruno , Simoni Giuseppe 
Published: March 2007

AbstractA study was done to evaluate the effects of diagnostic ultrasound on sister chromatid exchange (SCE) in first‐trimester chorionic villi under controlled technical conditions. Chromosome analysis was performed by the direct method using spontaneous mitoses from the cytotrophoblast layer, and SCE visualization was accomplished by a 72 h treatment with 5‐bromodeoxyuridine (BrdU) at a concentration of 10μg/ml. The slides were stained with ac ridine orange. Immediately before first‐trimester chorionic villus sampling, a group of ten pregnant women was exposed to diagnostic ultrasound for 20min (in vivo exposure). This group of patients was compared with a control group who were not exposed. A mean value of SCE/cell frequency of 4·2 ± 0·2 was found in the exposed pregnancies, while a value of 3·7 ± 0·2 was observed in the control group. After in vitro exposure of chorionic villi obtained from elective abortions, the frequency of SCE/cell did not differ significantly among samples with different exposures (1,2, and 3 h) and controls. The positive control (mitomycin C) yielded a significant increase in SCE frequency.
Primary prevention of neural tube defects with folic acid supplementation: Cuban experience
Authors: Vergel R. G. , Sanchez L. R. , Heredero B. L. , Rodriguez P. L. , Martinez A. J. 
Published: March 2007

AbstractFolic acid (5 mg) was given daily, for not less than one menstrual period before conception and until the tenth week of pregnancy, to 81 women (FS) with a history of a previous neural tube defect (NTD) birth. There was no NTD recurrence among this group or among the offspring of a further 20 women (PS) whose folic acid supplementation fell short of the full regime. In another 114 women who became pregnant without folic acid supplementation (US), there were four NTD recurrences (3.5 per cent). Our results suggest that folic acid supplementation might be an effective method of primary prevention of neural tube defects.
Multicystic dysplastic kidney: Natural history of prenatally detected cases
Authors: Duncan Jeffrey S. , Fernandez Martha T. , Abbitt Patricia L. , Thiagarajah Siva , Howards Stuart S. , Hogge W. Allen 
Published: March 2007

AbstractTo delineate the natural history of fetal multicystic dysplastic kidneys (MDKs), all cases that were prenatally detected in the Prenatal Diagnosis Center of the University of Virginia from September 1985 to 31 August 1988 were reviewed. All patients were followed through the Center with serial ultrasound evaluations at approximately 4‐week intervals, and each liveborn infant was evaluated and followed by one of the authors (S.S.H.)Of the 14 cases detected, ten were detected in the second trimester, the earliest at 16·5 weeks' gestation. Of the nine fetuses with non‐lethal disease, there were two cases in which the lesion remained unchanged during observation. Both had an initial diagnosis in the third trimester. In those cases diagnosed in the second trimester (7), all showed an initial increase in the size and number of cysts, followed by involutional changes either in utero (2) or in the neonatal period (3). Two infants had immediate surgical removal of the MDK, one because of respiratory compromise, and the other because of an uncertain diagnosis on renal scan.Abnormalities of the contralateral kidney were found in 7 of 14 fetuses. Five were lethal conditions. Associated non‐renal abnormalities were common in bilateral MDK (80 per cent), but rare in unilateral MDK (11 per cent).
The value of early third‐trimester maternal serum alpha‐fetoprotein determination
Authors: O'Brien William F. , Sternlicht Deborah , Torres Carol , Knuppel Robert A. , Montenegro Raul 
Published: March 2007

AbstractThe value of determination of maternal serum of alpha‐fetoprotein (MSAFP) concentration in i he second trimester is well established. In addition to open neural tube defects, pregnancies associated with elevated second‐trimester MSAFP have been shown to be at increased risk for a variety of problems, including low birth weight, preterm delivery, and pregnancy‐induced hypertension (PIH). We evaluated the potential usefulness of MSAFP in the early third trimester. MSAFP concentration was determined in over 200 women at the time of glucose screening. Results were analysed with regard to gestational age at sampling, maternal weight, race, diabetes, and presence of twins. MSAFP was twice as high in twin gestation, but not affected by race or the presence of diabetes. In contrast to levels in early gestation, third‐trimester MSAFP does not appear to be predictive of preterm delivery, low birth weight, or PIH.
Prenatal diagnosis of intrapericardial teratoma
Authors: Alegre M. , Torrents M. , Carreras E. , Mortera C. , Cusí V. , Carrera J. M. 
Published: March 2007

AbstractA case of intrapericardial teratoma diagnosed by ultrasound before birth is described. Planning for delivery and immediate neonatal intensive management allowed successful cardiac surgery, full resection of the tumour and full recovery.
Applicability of 19–DEJ‐l monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa
Authors: Fine Jo‐David , Holbrook Karen A. , Elias Sherman , Anton‐Lamprecht Ingrun , Rauskolb Rüdiger 
Published: March 2007

AbstractRecently a monoclonal antibody (19–DEJ‐l) was produced with binding specificity for the mid‐lamina lucida of the skin dermoepidermal junction, in very close association with overlying hemidesmosomes. Since skin cleavage occurs within the lamina lucida in the inherited blistering disorder, junctional epidermolysis bullosa (EB), and is associated with aberrations in the morphology and/or number of hemidesmosomes in such tissue, we have sought to determine whether this monoclonal antibody could be used for prenatal diagnosis. Fetoscopy‐directed skin biopsies were obtained from two fetuses at risk for junctional EB and post‐mortem samples from two other fetuses with the Herlitz type of junctional EB, the latter after prenatal diagnosis by electron microscopy and termination of each pregnancy. Specimens were examined in part by light and electron microscopy for evidence of skin cleavage or other alterations in morphology, and in part by indirect immunofluorescence for altered basement membrane antigenicity. Three of four fetuses were shown to have intra‐lamina lucida blister formation indicative of, and hemidesmosome hypoplasia proving, junctional EB. Each was also shown to lack expression of GB3 and 19–DEJ‐l antigens, consistent with findings noted postnatally in junctional EB; diagnosis was confirmed in each at the time of therapeutic abortion. A fourth fetus had no abnormalities detected; lack of disease involvement was confirmed at the time of delivery, and subsequently over 8 months of careful serial evaluation. We conclude that 19–DEJ‐l monoclonal antibody is an accurate and sensitive irnmunohistochemical probe for junctional EB, and may be employed in the prenatal diagnostic evaluation of fetuses at risk for this disorder.
First‐trimester maternal serum biochemical indicators in Down syndrome
Authors: Brock D. J. H. , Barron Lilias , Holloway Susan , Liston W. A. , Hillier S. G. , Seppala M. 
Published: March 2007

AbstractA set of 21 early maternal serum samples (19 first‐trimester and two at 14 weeks) from pregnancies resulting in a child with Down syndrome was matched for gestation and length of storage with 63 samples from unaffected pregnancies. The concentrations of alpha‐fetoprotein (AFP), unconjugated oestriol (uE3), human chorionic gonadotrophin (hCG), pregnancy‐specific β1–glycoprotein (SP1), and placental alkaline phosphatase (PALP) were measured. The ratios of the medians for Down syndrome pregnancies compared with the medians for controls were AFP 0·71, uE3 0·67, hCG 1·43, SP1 0·79, and PALP 0·92. Although the differences between the medians for affected and unaffected pregnancies were not significant, the trends for AFP, uE3, and hCG confirm earlier findings on first‐trimester samples.
Prenatal diagnosis of trisomy for the distal two‐thirds of the long arm of chromosome 14 (q21→qter)
Authors: Duckett D. P. , Roberts E. , McKeever P. , Young I. D. 
Published: March 2007

AbstractA de novo case of ‘pure’ trisomy 14q21 → qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25–year‐old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond the first trimester. The infant apipeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14.
Prenatal ultrasonographic diagnosis of radial‐ray reduction malformations
Authors: Brons Jozien T. J. , Van Der Harten Hans J. , Van Geijn Herman P. , Wladimiroff Juri W. , Niermeuer Martinus F. , Lindhout Dick , Stuart Patricia A. , Meijer Chris J. L. M. , Arts Nico F. Th 
Published: March 2007

AbstractRadial‐ray reduction malformations (RRRMs) may occur isolated or in association with other anomalies. The data of seven fetuses born with RRRMs were collected. Six fetuses had associated lethal abnormalities of the central nervous system, urogenital system, and/or heart, detected by ultrasound. In five cases, it was possible to establish the precise diagnosis, enabling an informed prognosis and subsequent genetic counselling. The diagnoses were: Edwards syndrome (n=3), VACTERL association (n=1), and Poland‐Moebius‐like complex (n= 1). In two cases, a complete diagnosis was not possible because of inadequate evaluation of these fetuses before and/or after birth. A proposal is given for the diagnostic approach for infants with RRRMs detected in the antenatal period by means of ultrasonography.
Glycine/serine ratio and the prenatal diagnosis of non‐ketotic hyperglycinaemia
Authors: Parvy P. , Rabier D. , Boue J. , Saudubray J. M. , Kamoun P. 
Published: March 2007

AbstractWe describe our experience of prenatal diagnosis of non‐ketotic hyperglycinaemia in four at‐risk pregnancies using the glycine/serine ratio in amniotic fluid obtained between 18 and 20 weeks of gestation. All glycine levels were in the normal range. Serine levels were normal in two patients and borderline in the others. Glycine/serine ratios were normal in two patients, moderately increased in one patient ( + 3 SD), and highly increased in one patient ( + 8 SD). All the children were perfectly normal at birth. Because of this false‐positive prediction and the false‐negative prediction recently reported, we suggest that this unreliable method should not be used.
Sex chromosome mosaicism not detected at amniocentesis
Authors: Roland B. , Cox D. M. , Rudd N. L. 
Published: March 2007

AbstractAmniocentesis was performed because of a fetal abdominal wall defect, and a 45,X karyotype was obtained. A near‐normal male infant with no features of Turner syndrome was delivered. The karyotype of the infant was 45,X/46,X, dic(Y)(q11), with each of the cell lines present in approximately 50 per cent of the lymphocytes and fibroblasts examined.
Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation
Authors: Stripparo L. , Buscaglia M. , Longatti L. , Ghisonl L. , Dambrosio F. , Guerneri S. , Rosella F. , Lituania M. , Cordone M. , De Biasio P. , Passamonti U. , Gimelli G. , Cuoco C. 
Published: March 2007

AbstractBetween May 1987 and November 1988, 505 early amniocentesis within the 15th week of gestation were performed at the First Department of Obstetrics and Gynaecology,‘L. Mangiagalli’ of the University of Milan and at the Department of Obstetrics and Gynaecology of ‘Gaslini’ hospital in Genoa. A total number often abnormal fetal karyotypes were diagnosed. In addition, one case of pseudomosaicism (not confirmed on fetal blood) and one case of osteogenesis imperfecta type II (observed at ultrasound examination) were also detected. Eleven pregnancies were therefore terminated because of an abnormal fetus. Out of 494 pregnancies (excluding terminated pregnancies) there were 16 fetal losses within the 28th week; ten of these occurred in the 2 weeks following the procedure. There were 475 live‐births, of which 447 were term deliveries and the other 28 deliveries occurred before the 37th week of gestation.
Prenatal diagnosis of del(15)(q11q13)
Authors: Le Bris‐Quillevere M. J. , Riviere D. , Pluchon‐Riviere E. , Chabaud J. J. , Parent P. , Volant A. , Boog G. 
Published: March 2007

AbstractA case of del(15)(q11q13) was detected in amniotic fluid cell cultures and confirmed by cordocentesis in a 27‐year‐old woman with a low maternal serum alpha‐fetoprotein level. The fetus was shown to have a short femoral length on ultrasonography. This structural chromosome abnormality associated with the prenatal ultrasonographic findings and the morphological characteristics visualized after termination of pregnancy strongly suggest Prader‐Willi syndrome.
The risks of early cordocentesis (12–21 weeks): Analysis of 500 procedures
Authors: Orlandi F. , Damiani G. , Jakil C. , Lauricella S. , Bertolino O. , Maggio A. 
Published: March 2007

AbstractFive hundred cordocenteses were performed between 12 and 21 weeks. The indications were thalassaemia (386), rapid karyotyping (97), feto‐maternal allo‐immunization (10), rubella (6), and toxoplasmosis (1). One hundred and ten pregnancies underwent termination on the basis of the result, while 20 of the 370 pregnancies intended to continue were lost to follow‐up. Amongst these were 16 fetal losses (4·3 per cent) and 22 premature deliveries (5·9 per cent); no other complications were reported. Four adverse prognostic factors were identified: (a) cord bleeding; (b) fetal bradycardia; (c) prolonged procedure time; and (d) anterior insertion of the placenta. There was no‘obvious’ difference in fetal loss rate with advancing gestation until 19–21 weeks, when the risk of fetal loss decreased to 2·5 per cent.
Holoprosencephaly: Prenatal diagnosis by sonography and magnetic resonance imaging
Authors: Tomà P. , Costa A. , Magnano G. M. , Cariati M. , Lituania M. 
Published: March 2007

AbstractMagnetic resonance (MR) imaging was performed on two women at the 33rd and 34th pregnancy week, respectively, after ultrasonographic detection of a brain malformation. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of holoprosencephaly, improving the image quality and offering additional information in such cases of difficult differential fetal diagnosis. Holoprosencephaly was finally confirmed by neonatal US and autopsy (case 1), US, CT and MR (case 2).
Limb reduction and chorion villus sampling
Authors: Boyd P. A. , Keeling J. W. , Selinger M. , Mackenzie I. Z. 
Published: March 2007

AbstractUpper limb reduction was diagnosed by ultrasound scan at 17 weeks after chorion villus sampling at 9 weeks' gestation. Pregnancy was terminated and necropsy confirmed limb reduction in an otherwise normal fetus. The relationship of limb reduction to amniotic band syndrome is discussed.
Ultrasound diagnostic features of twin reversed arterial perfusion sequence
Authors: Borrell Antoni , Pesarrodona Antoni , Puerto Bienvenido , Deulofeu Pere , Fuster Jordi Joan , Fortuny Albert 
Published: March 2007

AbstractTwo cases of twin reversed arterial perfusion (TRAP) sequence with relevant ultrasound features that would help an accurate diagnosis are described. Available management options are proposed and discussed.
Amniotic fluid acetylcholinesterase in the prenatal diagnosis of open neural tube defects and abdominal wall defects: A comparison of gel electrophoresis and a monoclonal antibody immunoassay
Authors: Loft A. G. Rasmussen , Nanchahal K. , Cuckle H. S. , Wald N. J. , Hulten M. , Leedham P. , Nørgaard‐Pedersen B. 
Published: March 2007

AbstractStored amniotic fluid samples collected in Oxford and East Birmingham as part of the Collaborative Acetylcholinesterase Study were assayed for the presence of acetylcholinesterase (AChE) using a monoclonal antibody (4F19) enzyme antigen immunoassay. These results were compared with the results of a gel AChE which had been performed earlier. A total of 5689 samples from singleton pregnancies were analysed (including 36 with anencephaly, 77 with open spina bifida and 17 with anterior abdominal wall defects). The gel test yielded detection rates of 97% for anencephaly, 99% for open spina bifida and 94% for abdominal wall defects; the false positive rate (excluding pregnancies associated with serious abnormalities, miscarriages and intrauterine deaths) was 0·24%. The monoclonal test yielded similar results; using appropriate cut‐off values to allow for differences in acetylcholinesterase levels in blood stained and clear samples, a similar false‐positive rate of 0·22% was associated with detection rates of 97%, 95 % and 71 % respectively for the three types of defect. Although the detection rates and the false positive rate were slightly higher for the gel test, a result that might be explained by a decrease in AChE activity caused by storage of the samples, the monoclonal test has the advantages of requiring less interpretative expertise, it can be performed on a larger number of samples a day and it is not affected by contamination with fetal calf serum.