bluuebunny/crossref_metadata_2025_split huggingface dataset:
The importance of late pregnancy scans for renal tract abnormalities
Authors: Economou G. , Egginton J. A. , Brookfield D. S. K. 
Published: March 2007

AbstractA 12‐month prospective population study of antenatal patients was undertaken in a large district general hospital to assess ultrasound scanning in late pregnancy for the detection of non‐lethal fetal renal abnormalities. The rate of false‐negative antenatal scans during the study period was also assessed. Both 18–20 and 28–32 weeks' gestational scans were performed on 6497 pregnant women. Forty fetuses with a suspected abnormality were referred for postnatal examination and 29 neonates were found to have renal abnormalities. Of these, 21 were significant and eight were likely to be extrarenal pelves. In six, there was evidence of an abnormality at the early scan. Nine children, seven with reflux, presented within the study period, all with preceding normal antenatal scans. The incidence (0·46 per cent) of structural renal abnormalities is similar to that reported previously. A late scan is necessary for the antenatal detection of non‐lethal renal abnormalities.
Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis
Authors: Willekes Christine , Roumen Frans J. M. E. , van Elsacker‐Niele Anne‐Marie W. , Weiland Harro T. , Vermey‐Keers Christl , van Krieken Johan H. J. M. , de Die‐Smulders Christine E. M. , Hamers Guus J. H. , Vaes‐Peters Gerrie P. M. 
Published: March 2007

AbstractIn a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies.
Prenatal diagnosis of congenital diaphragmatic hernia: A retrospective analysis of 28 cases
Authors: Manni M. , Heydanus R. , Den Hollander N. S. , Stewart P. A. , de Vogelaere Ch. , Wladimiroff J. W. 
Published: March 2007

AbstractIn a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10·5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.
Fetal diagnosis of toxoplasmosis in 190 women infected during pregnancy
Authors: Pratlong Francine , Boulot Pierre , Issert Eric , Msika Martine , Dupont Frédéric , Bachelard Bruno , Sarda Pierre , Viala Jean‐Louis , Jarry Daniel 
Published: March 2007

AbstractOne hundred and ninety women who contracted toxoplasmosis after the seventh week of pregnancy underwent antenatal diagnosis, including ultrasound examination and biological tests. Tests included Toxoplasma isolation in fetal blood and amniotic fluid by mouse inoculation, specific IgM and IgA in fetal blood, and non‐specific tests. Twenty fetuses had positive specific as well as non‐specific tests for Toxoplasma infection. At birth, four of these presented with clinical congenital toxoplasmosis and 12 with subclinical forms. Antenatal diagnosis enabled the detection of 83 per cent of the infected fetuses. Under specific conditions, cordocentesis permits early diagnosis and considerably reduces the number of terminations of pregnancy.
The influence of serum screening on the amniocentesis rate in women of advanced maternal age
Authors: Beekhuis J. R. , de Wolf B. T. H. M. , Mantingh A. , Heringa M. P. 
Published: March 2007

AbstractWe investigated the effect of maternal serum screening on the amniocentesis (AC) rate in women of advanced maternal age. The AC rate after maternal serum screening was compared in two groups of women with a singleton pregnancy, 855 women of 30–35 years and 98 of 36 years and older. In our population, 34·1 per cent of the women of 36 years or older were ‘screen‐positive’ for Down syndrome. Only 41·2 per cent of these women chose to undergo AC as opposed to 88·2 per cent in the younger age group. Within the older age group, the tendency to avoid AC increased with increasing age. Maternal serum screening led to a significant decrease in the AC rate in the older women. In this group, a comparison between the ‘a priori’ and the calculated risk might have had more influence on the decision to undergo AC than being screen‐positive or screen‐negative as such. We conclude that maternal serum screening had a major effect on the AC rate in women of advanced maternal age. This is of importance in a society in which the average maternal age is steadily increasing.
Maternal serum human chorionic gonadotrophin and pregnancy‐associated plasma protein a, markers for fetal down syndrome at 8–14 weeks
Authors: Macintosh M. C. M. , Iles R. , Teisner B. , Sharma K. , Chard T. , Grudzinskas J. G. , Ward R. H. T. , Muller F. 
Published: March 2007

AbstractMaternal serum levels of human chorionic gonadotrophin and its subunits (intact, α, and free βhCG) and pregnancy‐associated plasma protein A (PAPP‐A) were measured in 279 women between 8 and 14 weeks' gestation. This group included 23 pregnancies in which the fetus had Down syndrome (DS), diagnosed either at birth or during the second trimester (n=17) or from chorionic villus sampling (CVS) (n=6). Normal medians were determined from the 258 apparently normal pregnancies. The median levels of intact hCG (1·4 MOM) and free βhCG (2·1 MOM) were significantly raised, whereas the median level of PAPP‐A (0·39 MOM) was significantly lower in the DS pregnancies when compared with the control group. Levels of αhCG were similar in both the control and the DS pregnancies. Analysis of samples taken prior to 14 weeks' gestation demonstrated that only PAPP‐A (0·34 MOM) was significantly altered in DS pregnancies. However, after the exclusion of DS cases diagnosed at CVS, the median intact hCG (1·56 MOM), free βhCG (2·27 MOM), and αhCG (1·8 MOM) were all raised in DS pregnancies. This emphasizes the problem of the interpretation of biochemical markers when DS cases are diagnosed at CVS.
Significance of septations in isolated fetal cystic hygroma detected in the first trimester
Authors: Shulman Lee P. , Raafat Nabil A. , Mace Phyllis C. , Emerson Donald S. , Felker Richard E. , Simpson Joe Leigh , Elias Sherman 
Published: March 2007

AbstractRecent reports have indicated an increased risk for fetal chromosome abnormalities, especially autosomal trisomy, in fetuses with isolated cystic hygroma, or prominent nuchal membranes, detected by ultrasonography during the first trimester. However, these reports present contradictory information regarding the prognostic significance of septations within the cystic hygroma. We evaluated, in blind fashion, 55 consecutive cases of isolatd fetal cystic hygroma detected at or before 13·9 weeks' gestation to determine the association between septations and fetal chromosome complement. Septations were associated (P<0·05) with an increased risk for fetal chromosome abnormalities. However, the incidence of chromosome abnormalities was also increased (12·5 per cent) among cases not characterized by septations. Thus, we believe it prudent to offer invasive prenatal testing to all women found to be carrying fetuses with cystic hygroma, irrespective of the presence or absence of septations.
A quantitative estimation of the effect of prenatal diagnosis in dizygotic twin pregnancies in women of advanced maternal age
Authors: Brandenburg H. , Van Meulen J. H. P. Der , Jahoda M. G. J. , Wladimiroff J. W. , Niermeijer M. , Habbema J. D. F. 
Published: March 2007

AbstractGenetic counselling in a dizygotic twin pregnancy is complicated by the large number of possible pregnancy outcomes and by the conceivable differences in the parental valuation of these outcomes. We present the probability distributions of the pregnancy outcomes in dizygotic twin pregnancies for women from 35 to 45 years old without prenatal diagnosis and with transabdominal chorionic villus sampling (TA‐CVS) or amniocentesis (AC), using data from the literature. TA‐CVS always gives a higher probability of a favourable pregnancy outcome (the birth of one or two infants with a normal karyotype) than AC. For a 35‐year‐old woman, a 0·7 per cent risk of an unfavourable pregnancy outcome without prenatal diagnosis has to be weighed against the 2·1 per cent excess risk of loss of the entire pregnancy after TA‐CVS. For a 45‐year‐old woman, a 10·2 per cent risk of an unfavourable pregnancy outcome without TA‐CVS has to be balanced against a 4·4 per cent excess risk of pregnancy loss after TA‐CVS. This study provides a quantitative tool for the support of individual parents with respect to the decision to undergo prenatal diagnosis in a dizygotic twin pregnancy.
The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods
Authors: Pittalis M. C. , Dalprà L. , Torricelli F. , Rizzo N. , Nocera G. , Cariati E. , Santarini L. , Tibiletti M. G. , Agosti S. , Bovicelli L. , Forabosco A. 
Published: March 2007

AbstractCytogenetic analysis was performed in 4860 chorionic villus samples by means of both direct preparation and long‐term culture. The results of the analysis were compared with a classification including all theoretical types of combinations between the chromosomal constitution of the cytotrophoblast, extraembryonal mesoderm, and fetus, with the aim of evaluating the cytogenetic variability along the trophoblast—embryo axis. Eighteen of 29 possible combinations were found demonstrating a considerable heterogeneity. A mosaic conceptus was found in 1·5 per cent of cases, with generalized mosaicisms and confined mosaicisms in 0·2 and 1·3 per cent, respectively. Cytogenetic variability along the trophoblast—embryo axis was found in 1·42 per cent of cases. Results possibly leading to diagnostic errors (false‐positive and false‐negative results) were found in only 1·38 per cent. False‐positive results of direct preparation were the most commonly observed discrepancy (0·8 per cent), while the incidence of false‐positive results of the culture method and of both methods was 0·31 and 0·16 per cent respectively. The incidence of false‐negative results was 0·1 per cent, with false‐negative results of direct preparation 0·08 per cent and false‐negative results of both methods 0·02 per cent. False‐negative results of the culture method were not found. Our data confirm the high diagnostic accuracy of chorionic villus sampling and the utility of the combined use of the two methods in minimizing diagnostic errors and in reducing the need for follow‐up amniocentesis.
Prenatal diagnosis of X‐linked retinitis pigmentosa (RP) in five pregnancies at risk
Authors: Iampieri Maria Paola , Mingarelli Rita , Guern Eric Le , Novelli Giuseppe , Dallapiccola Bruno 
Published: March 2007

AbstractFive pregnancies at risk for X‐linked retinitis pigmentosa (RP) have been monitored by first‐trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild‐type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.
Prenatal echocardiographic diagnosis of right atrial isomerism
Authors: Colloridi V. , Pizzuto F. , Ventriglia F. , Giancotti A. , Pachi A. , Gallo P. 
Published: March 2007

AbstractA prenatal diagnosis of right atrial isomerism is often inferred through the recognition of a constellation of cardiac anomalies on the four‐chamber view or by the detection of visceral heterotaxy and asplenia. However, the actual occurrence of discordance between the arrangement of the atria and thoracic and abdominal organs makes the identification of the morphology of both atrial appendages the only reliable way to make a final diagnosis of atrial isomerism. Three cases of right atrial isomerism with visceral heterotaxy and a complex cardiac defect, diagnosed in utero by cross‐sectional and colour flow Doppler echocardiography, are reported. In all the patients, the right atrial isomerism was associated with an atrioventricular septal defect, a single aortic outlet from the right ventricle, and total anomalous venous return. The diagnosis of right atrial isomerism, always confirmed by neonatal re‐evaluation and/or by post‐mortem examination, was made through identifying two pyramidal atrial appendages in an echocardiographic transverse plane at the level of the atria and of the origin of the great arteries. This report demonstrates that a final intrauterine diagnosis of atrial isomerism is possible, whatever the visceral situs is.
Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis
Authors: Satge D. , Gasser B. , Geneix A. , Malet P. , Stoll C. 
Published: March 2007

AbstractFoci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.
Prenatal diagnosis of twin zygosity by DNA ‘fingerprint’ analysis
Authors: Appelman Z. , Manor M. , Magal N. , Caspi B. , Shohat M. , Blickstein I. 
Published: March 2007

AbstractA twin pregnancy with one hydrocephalic fetus with oligohydramnios is presented. Sonographic evaluation could not exclude monochorionicity. Before considering selective feticide, blood samples from both fetuses were examined for DNA ‘fingerprint’ analysis. The different banding patterns of the blood samples established dizygosity. This procedure is suggested in cases where sonography fails to determine chorionicity.
A rare case of cytogenetic discrepancy between extraembryonic and fetal tissue
Authors: Torricelli F. , Lisi E. , Brizzi L. , Mariani M. , Nannini R. , Cariati E. 
Published: March 2007

AbstractWe present a case of false‐negative discrepancy between extraembryonic and fetal tissue sampled at 14 weeks of amenorrhoea when ultrasound examination showed morphological anomalies of the fetus. The same cytogenetic characteristic was confirmed on tissue samples after abortion.
Chorionic villus sampling utilization following reports of a possible association with fetal limb defects
Authors: Cutillo Denise M. , Hammond Elizabeth A. , Reeser Suzanne L. , Kershner Melissa A. , Lukin Barbara , Godmilow Lynn , Donnenfeld Alan E. 
Published: March 2007

AbstractPrenatal diagnosis choices were reviewed in 473 women who presented for genetic counselling prior to 11 weeks' gestation for the indication of advanced maternal age. Group A consisted of 336 patients who were unaware of a possible association between chorionic villus sampling (CVS) and limb defects. Group B consisted of 137 patients who were provided this information. Fifty‐one per cent of patients in group A and 45 per cent of patients in group B chose CVS. This difference was not significant by χ2 analysis (P = 0·7). Patterns of prenatal diagnosis procedure utilization from 1987 to 1992 revealed a significant reduction in CVS utilization accompanied by a corresponding increase in amniocentesis after the association between CVS and limb defects was publicized. Referrals for CVS counselling also significantly declined. However, acceptance rates did not change for those patients who received genetic counselling. First‐trimester genetic counselling, including a discussion regarding a possible association between CVS and limb defects, helps patients make informed decisions concerning prenatal diagnosis options, and, in our population, resulted in no change in CVS acceptance rates.
Prenatal diagnosis of glutaryl‐CoA dehydrogenase deficiency: Experience using first‐trimester chorionic villus sampling
Authors: Christensen Ernst 
Published: March 2007

AbstractWe have performed prenatal diagnosis for glutaryl‐CoA dehydrogenase (GDH) deficiency in 16 pregnancies at risk by measuring the enzyme activity in chorionic villus samples. In most cases, GDH activity was measured both in uncultured chorionic villus samples and in cultured chorionic cells. In 4 of the 16 cases, an affected fetus was predicted, while the remaining cases were found to be normal. In three of the four affected cases, GDH activity was measured in both uncultured and cultured chorionic cells and the correct diagnosis established by both measurements. In the fourth case, only cultured cells were investigated because the chorionic villus sample was too small for the direct assay. All four pregnancies predicted to be affected were interrupted and the diagnoses confirmed on the aborted material in three of the cases. In the fourth case, no material was available for investigation. Of the 12 pregnancies predicted to be unaffected, ten cases resulted in the birth of healthy unaffected babies while two pregnancies are still in progress.
Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey
Authors: Wolstenholme J. , Rooney D. E. , Davison E. V. 
Published: March 2007

AbstractIn a retrospective collaborative study involving 21 U.K. laboratories and 11775 CVS prenatal diagnostic procedures, a total of 73 cases of confined placental mosaicism (CPM) were identified among the 8004 first‐trimester referrals because of advanced maternal age, a previous child with a numerical chromosome abnormality, or a family history of the same. Data were collected on subsequent cytogenetic follow‐up and pregnancy outcome for each case and a referral matched control. Comparison with the control population failed to demonstrate a marked increase in adverse pregnancy outcome in the CPM group, but a significant increase in both low and high birth weight infants was recorded. In a parallel study, 7 out of 108 cases, referred for prenatal diagnosis because of ultrasound detection of isolated intrauterine growth retardation (IUGR) in the second or third trimester, were shown to have a chromosome abnormality restricted to the extraembryonic tissues. These included cases of CPM involving trisomy 9 and del(13)(q13), neither of which has previously been reported in association with IUGR.
Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of U.K. data
Authors:   ASSOCIATION OF CLINICAL CYTOGENETICISTS WORKING PARTY ON CHORIONIC VILLI IN PRENATAL DIAGNOSIS
Published: March 2007

AbstractA prospective 3‐year collaborative study was undertaken in 1987 to collect cytogenetic data from diagnostic chorionic villus samples (CVS) in the U.K. in order to determine the predictive value of the chromosome abnormalities encountered. Twenty‐seven laboratories contributed a total number of 7595 cases, of which 97·6 per cent were successful. Excluding single cell anomalies, a total of 480 cytogenetic abnormalities were reported, of which 137 were familial structural rearrangements and 343 were de novo problems. Non‐mosaic trisomies of chromosomes 13, 18, and 21 (n=157), non‐mosaic sex chromosome abnormalities (n=33), and triploidy (n=6) were all confirmed in cells of fetal origin where follow‐up information was available. Of the nine remaining non‐mosaics including tetraploidy, trisomies of other autosomes, and extra markers, only a trisomy 16 and a case of a supernumerary marker proved genuine. Eighty‐eight cases of mosaicism were reported to the study, of which only nine were confirmed as genuine: two cases involving chromosome 13, one trisomy 18, two examples of extra marker chromosomes, three 45,X, and one 47,XXX. There were no reports of false‐negative findings. Presumptive maternal cell contamination was encountered in 39 cases, a detected incidence of 0·5 per cent. Four cases of presumptive ‘vanishing twin’ were recorded: in three of these, direct preparations showed a female karyotype, whereas cultures indicated a male (with male fetuses in two cases). The fourth case was of a female fetus with male and female cells in the CVS cultures. Subtle structural chromosome abnormalities were missed in three instances. Accurate prediction of the fetal karyotype was shown to require detailed knowledge of both the nature and the distribution of abnormal cells in the extra‐embryonic tissues. In many cases, this could only be made where results from direct preparations and cultured cells were available. A number of conclusions were reached from these and similar data in the literature regarding the reliability of chromosome findings in CVS.
Examination of fetuses after induced abortion for fetal abnormality—a follow‐up study
Authors: Medeira A. , Norman A. , Haslam J. , Clayton‐Smith J. , Donnai D. 
Published: March 2007

AbstractIn the North‐Western Region we offer a service to examine fetuses aborted after the diagnosis of fetal abnormalities. Many obstetricians use this service. We examined 343 mid‐trimester fetuses over the last 5 years: 215 following an abnormal scan and 128 abnormal amniotic fluid or villus findings. When necessary, investigations were performed. A post‐mortem examination was always required. As a result of fetal investigation, the scan diagnosis was modified or refined in 91 cases (42·3 per cent). In three of these cases, no fetal abnormality was found. For the fetuses diagnosed as abnormal by amniocentesis or chorionic villus biopsy, in one (0·8 per cent) the pre‐termination diagnosis was not confirmed. The results were similar to those of our previous 5‐year study except (a) diagnosis of neural tube defects was rarely based on amniocentesis in the present study (2/62, 3·2 per cent) compared with the previous one (32/103, 31 per cent), and (b) renal abnormalities were more often diagnosed in the pre‐termination scan in the present study. We conclude that the examination of aborted mid‐trimester fetuses by dysmorphologists continues to improve diagnosis, allowing more accurate genetic counselling for the families.
Maternal serum inhibin levels in second‐trimester down's syndrome pregnancies
Authors: Cuckle H. S. , Holding S. , Jones R. 
Published: March 2007

AbstractMaternal serum inhibin levels were measured in 19 second‐trimester pregnancies affected by fetal Down's syndrome and 95 unaffected control pregnancies matched for gestational age. A statistically significant elevation was found in the affected pregnancies compared with the controls (Wilcoxon rank sum test: one‐tail P=0·02). The median level in the cases was 1·3 times that in the controls, with 95 per cent confidence limits of 0·9–1·9. Although the inhibin levels were unrelated to those of alpha‐fetoprotein and unconjugated oestriol in the same samples, there was a statistically significant correlation with human chorionic gonadotropin. This together with the relatively small elevation in cases suggests that inhibin would be of limited value in maternal serum screening for Down's syndrome.