bluuebunny/crossref_metadata_2025_split huggingface dataset:
Predictive value of amniotic acetylcholinesterase analysis in the diagnosis of fetal abnormality in 3700 pregnancies
Authors: Aitken D. A. , Morrison N. M. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractThe value of acetylcholinesterase (AChE) analysis as an adjunctive test to amniotic alpha fetoprotein (amAFP) for the diagnosis of fetal abnormality has been investigated in a series of 3785 amniotic fluid samples. Quantitative analysis of AChE performed retrospectively on a selected group of 541 amniotic fluid samples failed to discriminate between normal and open neural tube defect pregnancies. Qualitative analysis of AChE by polyacrylamide gel (PAG) electrophoresis in the same series of 541 fluids correctly identified 251 of the 255 pregnancies with open neural tube defect and 29 of the 31 pregnancies with false positive amAFP results. The failure of the test to diagnose 4 cases of open neural tube defect was probably attributable to the age and condition of the stored AF samples.Routine diagnostic testing of AChE isoenzymes in a further 3244 AF samples successfully identified all 170 cases of open neural tube defect and 20 cases with other fetal defects. Thirteen fluids gave false positive AChE results (0.4 per cent) compared to 59 of the series in which there were false positive amAFP results (1.8 per cent). Six of the 13 false positive AChE cases had AChE bands of low intensity which would not be regarded as diagnostic of fetal abnormality, and in five the AChE band may have been the result of significant blood contamination. False positive AChE results contributed to the decision to abort three apparently normal fetuses, but a normal AChE result undoubtedly helped to save a number of pregnancies with false positive amAFP results.Our experience suggests that repeating the amniocentesis may help in resolving the rare diagnostic difficulty of a positive AChE result with or without an elevated amAFP in the absence of ultrasound evidence of fetal abnormality, particularly where there is blood contamination of the amniotic fluid sample.
Prenatal sex diagnosis: Testosterone and fsh levels in mid‐trimester amniotic fluids
Authors: Abeliovich Dvorah , Leiberman Joseph R , Teuerstein Iris , Levy Joseph 
Published: March 2007

AbstractWe studied the validity of mid‐trimester amniotic fluid testosterone and FSH in the diagnosis of fetal sex in abnormal fetuses and in twins.It was found that the testosterone/FSH ratio, but not the level of the individual hormones, was an excellent criterion for fetal sex diagnosis. In a control group of 32 female and 34 male fetuses, the testosterone/FSH ratio was diagnostic. In two cases the values were indeterminate and fetal sex could not be predicted, but there were no false diagnoses.The abnormalities of the fetuses were diagnosed by karyotype analyses or raised levels of α‐fetoprotein. It was found that neither autosomal trisomies nor X‐chromosome aneuploidy or neural tube defect interfered with the diagnostic value of the hormonal approach.The twin study included 14 pairs, three of whom were discordant for sex. In all twins the fetal sex diagnosis was appropriate. In co‐twins of the same sex the hormone levels were very close to each other.
Gastroschisis and omphalocele: Prenatal diagnosis and perinatal management
Authors: Davidson J. M. , Johnson Timothy R. B. , Rigdon David T. , Thompson Barry H. 
Published: March 2007

AbstractObstetric ultrasonography has made the prenatal diagnosis of gastroschisis and omphalocele more common. We present illustrative cases 2nd review the ultrasonographic features.Because of the increased risk of concomitant abnormalities (including trisomies) with omphalocele, full evaluation is indicated when this diagnosis is suspected.Recent perinatal approaches to delivery have favoured caesarean section. without scientific evidence that outcome is improved. Our experience. as well as a review of the literature, suggests that the outcome for vaginally delivered infants is acceptable. A prospective study of this question is needed.
Aneuploidy and cystic hygroma detectable by ultrasound
Authors: Redford D. H. A. , McNay M. B. , Ferguson‐Smith M. E. , Jamieson M. E. 
Published: March 2007

AbstractDuring one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY+21 and 47XX+18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.
The prenatal diagnosis of joubert's syndrome of familial agenesis of the cerebellar vermis
Authors: Campbell Stuart , Tsannatos Christina , Pearce J. Malcolm 
Published: March 2007

AbstractThe prenatal diagnosis by ultrasound examination of Joubert's syndrome of familial agenesis of the cerebellar vermis is described allowing termination of pregnancy ai 26 weeks gestation. The diagnosis was made by a comparison of the prenatal ultrasound examination with computerized axial tomography obtained from the siblings with the same condition.
Prenatal assessment of anterior abdominal wall defects and their prognosis
Authors: Mann Linda , Ferguson‐Smith M. A. , Desai M. , Gibson A. A. M. , Raine P. A. M. 
Published: March 2007

AbstractEighty‐eight cases of abdominal wall defect with and without other lesions were ascertained by reviewing all labour room records in the West of Scotland, all surgical admissions to the Royal Hospital for Sick Children, Yorkhill, and all post mortems at Royal Hospital for Sick Children between 1978 and 1981. The affected cases comprised 39 terminations of pregnancy (17 of anterior abdominal wall defect without neural tube defect). 20 spontaneous stillbirths and 29 livebirths. All 10 cases of body stalk anomaly, 37.5 per cent of 16 gastroschisis cases and 53 per cent of 62 exomphalos cases had additional severe abnormalities. Abnormal karyotypes were present in seven out of 19 exomphalos cases but all karyotypes from 10 gastroschisis and 6 body stalk anomaly cases were normal. No correlation was found between the maternal serum AFP levels, the amniotic AFP levels and acetylcholinesterase results and the size of the lesion.It is proposed that anterior abdominal wall defects detected prenatally should have chromosome analysis and careful ultrasound to exclude associated severe anomalies before coming to a decision about termination. This policy was implemented in six pregnancies complicated by fetal gastroschisis without severe associated anomalies which were identified in the second trimester and continued to term. Immediate surgical repair was achieved in each case, although two of the infants succumbed from later complications of gastroschisis closure and one from respiratory distress syndrome. The remaining three infants made a satisfactory recovery.
Early prenatal sonographic appearance of rare thoraco‐abdominal eventration
Authors: Seeds John W. , Cefalo Robert C. , Lies Stephen C. , Koontz William L. 
Published: March 2007

AbstractFetal ventral wall malformations may be diagnosed prenatally with ultrasound. These include omphalocele, gastroschisis, or even thoracic defects with or without ectopia cordis. It is important whenever such a defect is found to carefully define the full extent of the lesion prior to parental counselling. Described and illustrated here is the prenatal diagnosis with real‐time ultrasound at 17 weeks gestation of a rare thoraco‐abdominal ventral wall defect including omphalocele, bifid sternum, diaphragmatic aplasia, and pericardial aplasia with incomplete ectopia cordis. The technique is described and the importance of the complete, accurate delineation of anatomic malformations is emphasized.
Prenatal ultrasonic findings in congenital chloride diarrhoea
Authors: Kirkinen P. , Jouppila P. 
Published: March 2007

AbstractIn 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabolic inherited disease are identical to those caused by mechanical obstruction of the distal fetal intestine. Whenever these findings are encountered prenatally, the possibility of chloride diarrhoea should be considered, because therapy with electrolytes is needed rather than the surgical intervention required in mechanical intestinal obstruction.
A canadian collaborative study of mosaicism in amniotic fluid cell cultures
Authors: Worton Ronald G. , Stern Randi 
Published: March 2007

AbstractData on chromosomal mosaicism was collected retrospectively on 12 386 amniotic fluid samples cultured over a 10 year period in 14 Canadian centres.Level I mosaicism (a single abnormal cell—excluding single cell monosomy) was encountered in 863 cases (7.1 per cent). Level II mosaicism (multiple cells with the same abnormality in a single flask or colony) was encountered in 138 cases (1.1 per cent). Level III mosaicism (multiple cells distributed over multiple flasks or colonies) was encountered in 34 cases (0.3 per cent).Analysis of the details of these cases allowed five major conclusions to be drawn: (1) Single cell abnormalities should not be taken as an indication of true fetal mosaicism. Only rarely will this interpretation prove to be incorrect. (2) Mosaicism involving multiple cells confined to a single flask should not be regarded as an indication of true fetal mosaicism. Only occasionally will this interpretation prove to be incorrect. (3) Mosaicism involving multiple cells distributed over more than one flask should be regarded as a strong indication of true fetal mosaicism. Sixty per cent will be confirmed by karyotype analysis of the fetus or infant. (4) Mosaicism of the XX/XY type is usually due to maternal cell contamination. Occasionally it can be a female fetus with XY cells from an unknown source. (5) The in situ or colony method of chromosome analysis has no clear advantage over the flask method for either the detection of true fetal mosaicism or for the ability to distinguish true mosaics from false positives.
European collaborative study on prenatal diagnosis: Mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures
Authors: Bui T.‐H. , Iselius L. , Lindsten J. 
Published: March 2007

AbstractA report is given of the results of a European collaborative study on mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. The mean frequency of cases with mosaicism was 0.10 per cent, with pseudomosaicism 0.64 per cent and with single abnormal cells 2.83 per cent in a series of 44 170 amniotic fluid samples. There was no significant difference between the colony (in situ) and the flask method with regard to the frequency of mosaicism. Pseudomosaicism and single abnormal cells were more frequent in cases studied with the flask method probably due to other factors than the method of cultivation of the cells.The frequency of maternal cell contamination was 0.17 per cent and the frequency of wrong sex assignment was 0.11 per cent. A more correct estimation is obtained if these frequencies are doubled.There was a considerable variation between laboratories with regard to the frequencies given above. One reason for this variation is that there are no sharp limits between mosaicism, pseudomosaicism and single abnormal cells. Thus the material contained cases diagnosed as having pseudomosaicism which turned out to be mosaics at birth and to have an abnormal phenotype. These cases were very rare but pose a definite problem in prenatal cytogenetic diagnosis.
Prenatal pleural effusion associated with congenital pulmonary lymphangiectasia
Authors: Wilson R. H. J. Kerr , Duncan A. , Hume R. , Bain A. D. 
Published: March 2007

AbstractA pleural effusion associated with congenital pulmonary lymphangiectasia was detected in a fetus in utero but was absent at the time of delivery. The pleural effusion was unilateral although the disease involved both lungs. In this case there was an association between polyhydramnios and congenital pulmonary lymphangiectasia.
Prenatal diagnosis of cystic fibrosis. II. Meconium ileus in affected fetuses
Authors: Muller F. , Aubry M. C. , Gasser B. , Duchatel F. , Boué J. , Boué A. 
Published: March 2007

AbstractMeconium ileus was the presenting feature of cystic fibrosis in 46 per cent of the couples which have been referred for prenatal diagnosis.In fetuses which have been aborted on the basis of alkaline phosphatase isoenzymes assays, meconium ileus represented the only pathological feature of cystic fibrosis, and was observed in three fourths of the cases.Real‐time sonographic examination of fetuses at the time of amniocentesis was able to show an echogenic mass in the abdomen corresponding to the meconium ileus, and thus may afford a complementary means of diagnosis.
Microvillar enzyme analysis in amniotic fluid and the prenatal diagnosis of cystic fibrosis
Authors: Aitken D. A. , Yaqoob M. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractThe activities of two microvillar enzymes, gamma‐glutamyltranspeptidase (GGTP) and alkaline phosphatase (ALP) have been determined in amniotic fluid (AF) samples from 39 pregnancies with a 1‐in‐4 risk of cystic fibrosis. Seventeen of these were investigated prospectively. A reduced proportion of the fetal specific intestinal ALP isoenzyme was found in 7 of a total of 13 pregnancies with cystic fibrosis and in one pregnancy of confirmed normal outcome. Eight of the affected pregnancies were tested for AF GGTP activity and depressed levels were found in 15. None of the 3 liveborn cystic fibrosis cases in the prospective series was identified by the ALP assay although 2 had significantly reduced GGTP activity. There were several amniotic fluid samples from cases of cystic fibrosis, trisomy 18 and normal outcome which had discordant GGTP and ALP results.Four of the 6 cases of cystic fibrosis misclassified by the ALP assay had amniocentesis at 15 or 16 weeks gestation. Evidence is presented which confirms a previous suggestion that amniocentesis after 17 weeks gestation improves the predictability of the ALP isoenzyme assay for the prenatal diagnosis of cystic fibrosis.
Five cases of prenatally diagnosed sex chromosome mosaicism
Authors: Nocera G. , Dalpra L. , Tibiletti M. G. , Buscglia M. 
Published: March 2007

AbstractPrenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4 of these were prenatally detected, while 1 case was revealed only in the fetal lymphocytes after induced abortion. The limits of amniotic fluid culture with regard to the diagnosis of true mosaics and the difficulties arising in genetic counselling are discussed.
Prenatal diagnosis of trisomy 10 p in a twin pregnancy
Authors: Farge Pierre , Dallaire Louis , Potier Michel , Melançon Serge B. 
Published: March 2007

AbstractA twin pregnancy with trisomy 10 p due to a paternal 10;12 translocation is reported. The prenatal diagnosis steps followed in twin pregnancies are reviewed and the concordant features of trisomy 10 p seen in both fetuses confirm previous reports on the clinical features of this chromosomal defect.
Amniotic fluid gel acetylcholinesterase determination in prenatal diagnosis: Dark field illumination as a method for improving the detection of precipitation bands
Authors: Leschot N. J. , Heyting C. , Schaik M. V. , Redeker E. J. W. 
Published: March 2007

AbstractThis paper describes a sensitive method for the detection of precipitation bands in the qualitative acetylcholinesterase (AChe) gel test. This method–dark field illumination–is compared with two existing methods of detection: epi‐illumination of unstained gels and transillumination of dithio‐oxamide stained gels. The comparison has been carried out on a selected series of 271 amniotic fluid samples, taken before the 22nd week of gestation. All 96 samples from normal pregnancies were scored as negative with all three visualization methods. For the detection of neural tube defects (NTD) and omphaloceles, dark field illumination proved to be more efficient than epi‐illumination or dithio‐oxamide staining. In one case of another congenital defect, we obtained a positive result with dark field illumination, and a negative one with the other detection methods. It is concluded that dark field illumination was shown to be the most sensitive method for the detection of precipitation bands.
AFP transport across the fetal membranes in the human
Authors: Los F. J. , De Bruijn H. W. A. , Van Beek Calkoen‐Carpay T. , Huisjes H. J. 
Published: March 2007

AbstractIn this investigation the original observation of a correlation between the concentration of amniotic fluid albumin and maternal serum alpha fetoprotein (AFP), as a proof for amniotic fluid‐derived AFP in the maternal compartment is confirmed at 15 and 16 weeks of gestation. In contrast to the earlier reported highly significant relation in this study the correlation is only weak, especially at 15 weeks. This might be in agreement with a more frequent absence of raised maternal serum AFP levels in cases of raised amniotic fluid AFP levels prior to 16 weeks of gestation. Transamniotic AFP transport contributes a minor part of the AFP present in the maternal compartment, as also indicated by the lack of correlation between AFP concentrations in amniotic fluid and maternal serum.
Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism
Authors: McCorquodale Maureen M. , Cummins Theresa , Furlong Judith 
Published: March 2007

AbstractDouble aneuploidy involving Down syndrome and Turner syndrome is a rare chromosomal abnormality presumed to occur with a frequency of about 1 in 2 million births. Twenty‐one cases of this combined anomaly have been reported and two infants were born with this anomaly after a mistake in prenatal diagnosis. We report the first prenatal diagnosis of Down syndrome combined with Turner mosaicism and suggest that this polysyndrome may be more common than previously estimated. We, therefore, wish to alert cytogenetic laboratories performing prenatal diagnoses of the potential risks of misdiagnosis of this polysyndrome if banding is not performed and if a sufficient number of mitotic cells are not analysed.
Reduction of sera requirements in amniotic fluid cell culture
Authors: Chang Hsiao‐Chen , Jones Oliver W. 
Published: March 2007

AbstractReduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth‐promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20–30 per cent fetal bovine serum. The volume of amniotic fluid required to initiate culture can be as little as 1 ml. Amniotic fluid samples contaminated with red blood cells with no visible clot also grow well in the low serum medium. Cell‐free amniotic fluid combined with equal parts of supplemented medium is useful in initiating cell culture.
Persistently elevated AFP and AChE in amniotic fluid from a normal fetus following demise of its twin
Authors: Bass Harold N. , Oliver Joan B. , Srinivasan Murali , Petrucha Ruth , Ng Won , Lee Jo Ellen S. 
Published: March 2007

AbstractIntrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha‐fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18·5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (AChE) band. Persistently elevated AFP and positive AChE so long after fetal demise–‐6·5 and 11 weeks post IUFD–‐has not, to our knowledge, been previously described. In similar cases, high level ultrasound and careful placental examination at birth should be utilized to search for fetal abnormalities or multiple pregnancy with IUFD.
First trimester diagnosis of β‐thalassaemia in a twin pregnancy
Authors: Monni Giovanni , Rosatelli Cristina , Falchi Angela M. , Scalas Maria T. , Addis Maria , Maccioni Liliana , Tucci Anna Di , Tuveri Teresa , Cao Antonio 
Published: March 2007

AbstractThis paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous β°−thalassaemia (β°−39 mutant). Trophoblast samples from both twins were obtained at 10 weeks gestation with a forceps guided by ultrasound. Trophoblast DNA analysis, carried out with the oligonucleotide technique, revealed that one fetus was homozygous and the other heterozygous for the β−39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the α‐globin gene provided useful genetic markers for twin differentiation.
The prenatal detection of a familial pericentric inversion of chromosome 19
Authors: Couzin David A. , Watt Jessie L. , Stephen Gordon S. 
Published: March 2007

AbstractA familial pericentric inversion of chromosome 19 was detected prenatally in a young primagravida. As far as the authors are aware there are no previous published reports of this rare abnormality being ascertained in this manner. The problems of counselling such a family are considered.
modifications of ultradian and orcadian rhythms of fetal heart rate after fetal‐maternal adrenal gland suppression: A double blind study
Authors: Arduini D. , Rizzo G. , Parlati E. , Giorlandino C. , Valensise H. , Del'Acqua S. , Romanini C. 
Published: March 2007

AbstractIn order to verify whether fetal and maternal adrenal gland suppression induces effects on fetal behaviour, triamcinolone was administered to five healthy pregnant women at 35 weeks of gestation. Five patients of the same gestational age were used as control. Fetal heart rate (FHR) and fetal movements were recorded continuously over 2‐h interval by means of cardiotocography. After 3 weeks (38 weeks of gestation) the recordings were repeated without drug administration. Cortisol, adrenocorticotropin hormone, 17 β‐estradiol and unconjugated estriol were measured at the same time every 2 h in maternal peripheral plasma. At 35 weeks we found a loss of circadian rhythms of the hormones investigated and modifications of ultradian and circadian patterns of FHR in the treated group with respect to the control. No differences in hormonal and biophysical parameters were found between the two groups after the end of treatment (38 weeks). These data suggest that the inhibition of fetal and maternal adrenal glands could cause modifications of FHR patterns.
Fetal intestinal microvilli in human amniotic fluid
Authors: Potier Michel , Cousineau Jocelyne , Michaud Lorraine , Zolinger Max , Melançon Serge B. , Dallaire Louis 
Published: March 2007

AbstractThe intestinal microvilli of fetal origin in human amniotic fluid were purified by Ca2+ precipitation of contaminating organelles followed by differential centrifugation of microvillar membranes. In the purified preparation, the specific activity of the microvillar marker‐enzymes maltase and sucrase increased about 77‐fold over that in cell‐free amniotic fluid. Significant contamination of the purified preparation by endoplasmic reticulum (microsomes) and lysosomes was ruled out on the basis of a low content of the marker enzymes glucose‐6‐phosphatase (microsomes) and acid phosphatase (lysosomes). Amniotic fluid microvilli contain typical enzymes of the fetal intestine including maltase, sucrase, trehalase, alkaline phosphatase and γ‐glutamyltransferase, and their morphology by electron microscopy resembles that of vesiculated intestinal microvilli. Prenatal detection of genetic diseases due to a deficiency of a protein expressed in these membranes or associated to abnormal microvilli seems feasible.