bluuebunny/crossref_metadata_2025_split huggingface dataset:
The use of amniotic fluid AFP action limits in diagnosing open neural tube defects
Authors: Brock David J. H. 
Published: March 2007

AbstractAn analysis is made of alphafetoprotein (AFP) concentrations in 3630 amniotic fluids submitted for prospective prenatal diagnoses over a 7‐year period. There were 89 cases of anencephaly, 74 of open spina bifida and 3467 with normal singleton outcomes. The AFP data were expressed in both standard deviations above the mean and multiples of the normal median for individual weeks of gestation. False positive and false negative rates were comparable in the two systems at selected cut‐offs. It is concluded that either system may be used in setting action limits for the primary distinction of unaffected pregnancies from those in which an open neural tube defect is present.
Prenatal diagnosis of congenital adrenal hyperplasia (21‐OH deficiency type) by HLA typing
Authors: Couillin P. , Boue J. , Nicolas H. , Cheruy C. , Boue A. 
Published: March 2007

AbstractThe close genetic linkage between HLA‐B and congenital adrenal hyperplasia due to 21‐hydroxylase deficiency permits prenatal diagnosis of an affected fetus by HLA typing of amniotic fluid cells in pregnancies at risk.Some families at risk, especially those with an affected girl with ambiguous genitalia, will only plan another pregnancy if a prenatal diagnosis is possible. After HLA typing of the index case, parents and eventually grandparents, the family were informed of the possibility of a prenatal diagnosis. Fibroblast cell lines were initiated from skin biopsies of the index cases and parents and were used as controls in the tests. HLA typing of the fetus was done on amniotic fluid cells grown in vitro using first, a microcytotoxicity test and second quantitative microabsorption test.Ten prenatal diagnoses are reported. In two cases the HLA genotype indicated an affected fetus, examination of the aborted fetuses was in agreement with the diagnosis. In one case an affected male fetus was diagnosed, the pregnancy is in progress. In seven cases an unaffected infant was predicted (four carriers and three homozygous normal infants).
Can oculocutaneous albinism be diagnosed prenatally?
Authors: Haynes M. E. , Robertson E. 
Published: March 2007

AbstractA study of scalp and forearm skin biopsies from normally pigmented fetuses of gestational ages 16 to 28 weeks has indicated that prenatal diagnosis of albinism is a theoretical possibility. Pigment is not present in cells of the epidermis but can be found in hair follicles at the bulbous peg stage in the scalp only. Such hair follicles are present in the scalp as early as 16 weeks gestation. The findings indicate that prenatal diagnosis of albinism could be made on a scalp biopsy within the second trimester of pregnancy.
Short communications In Utero diagnosis of Kleeblattschädel (cloverleaf skull)
Authors: Salvo Anthony F. 
Published: March 2007

AbstractKleeblattschädel anomaly, or cloverleaf skull (Comings, 1965) is a name given to a grotesque appearance of the skull resulting from congenital premature synostosis of the various sutures. These will usually include the coronal and lambdoidal sutures. This rare entity is usually diagnosed during the newborn period and is verified by radiological findings. With the advent of ultrasound. and its frequent usage in obtaining bi‐parietal diameters, prenatal diagnosis of this skull abnormality is possible, and has recently been reported (Brahman et al. 1979). This communication reports another case of prenatal diagnosis of Kleeblattschädel by ultrasound.
Catecholamine metabolites in amniotic fluid from fetuses with neural tube defects
Authors: Lagercrantz H. , Sjöquist B. 
Published: March 2007

AbstractCatecholamine metabolites were analysed in amniotic fluid from fetuses with neural tube defects and controls. HMPG (4‐hydroxy‐3‐methoxyphenyl‐glycol) assumed to originate mainly from the central nervous system and VMA (4‐hydroxy‐3‐methoxymandelic acid) formed in the peripheral nervous system were determined by gas chromatography‐mass spectrometry. The HMPG/VMA ratio was increased (more than 2 SD) compared with controls in ten out of fifteen cases of neural tube defects.
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency by steroid analysis in the amniotic fluid of mid‐pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH
Authors: Forest Maguelone G. , Bétuel Hervé , Couillin Philippe , Boué André , David Michel , Floret Daniel , Francois René , Guibaud Pierre , Plauchu Henri , Rappaport Raphaël 
Published: March 2007

AbstractAmniotic fluid (AF) levels of 17‐hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar.Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies.In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21‐hydroxylase deficiency or on the basis of recombination (not fully tested).It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.
The possibility of prenatal diagnosis by gene dosage: Confirmation of duplication 10q24→qter from Got‐l activity in fetal erythrocytes
Authors: Dallapiccola B. , Pachì A. , Ferranti G. , Micara G. , Magnani M. , Dachà M. 
Published: March 2007

AbstractThe activity of four enzymes, including GOT‐1, has been investigated in the erythrocytes of a 10q→24qter trisomic fetus. Analyses have been performed on a feto‐maternal blood mixture sampled by fetoscopy and on red cells obtained by cardiac puncture, following therapeutic abortion.The demonstration of a 40 percent increase of GOT‐1 activity, as compared to normal fetuses of similar gestational age, suggests that gene dosage studies may be a useful confirmatory technique in prenatal diagnosis of unbalanced chromosomal aberrations.Practical application of a similar diagnostic approach is conditioned by (1) precise characterization of fetal chromosome imbalance; (2) confirmed assignment of the gene locus coding for the gene product under investigation; (3) evidence of a linear proportionality between gene dose and concentration of the gene product in patients with the same chromosome imbalance detected in the fetus; (4) knowledge of the range of normal variation at different weeks of gestation of the enzyme activity to be tested in the fetus; (5) safety of fetal sampling procedure.
Prenatal diagnosis for the detection of down syndrome: Why are so few eligible women tested?
Authors: Lippman‐Hand Abby , Piper Martha 
Published: March 2007

AbstractPostpartum women ≧ 33 years were interviewed about their attitudes to and knowledge and use of prenatal diagnosis. Overall, 68 per cent had heard of prenatal diagnosis; nevertheless, only 30 per cent of those ≧ 35 had actually been tested. The only significant difference between eligible women who were tested and those who were not was maternal age. Of those tested, half requested it for themselves; conversely, only two‐thirds of women requesting the procedure actually received it. Among women not tested, 82 per cent were never offered the procedure by the physician. Expressed attitudes to prenatal diagnosis were strongly positive among all women, with 75 per cent continuing to want testing after learning both their age‐specific risk of having an affected child and the possible risks of amniocentesis. The data document a potential demand for amniocentesis far in excess of current use and present service facilities. They suggest, moreover, that underuse may reflect professional hesitation and underreferral more than consumer lack of demand or reluctance to be tested.
45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?
Authors: Tabor Ann , Bang Jens , Philip John 
Published: March 2007

AbstractWe report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha‐fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype.Our data indicate, that cystic hygromata in Turner's syndrome may coexist with a normal amniotic fluid AFP, thus questioning the theory of leakage from the hygroma.It remains to be investigated if all cases of Turner's syndrome present a cystic hygroma in utero.
Comparison of fetal and maternal chromosome polymorphisms: Applications in prenatal diagnosis
Authors: Frydman M. , Greenberg D. A. , Mohandas T. K. , Kaback M. M. 
Published: March 2007

AbstractBy comparing the polymorphisms of Q‐banded karyotypes of a mother and her female fetus, it is possible to confirm that maternal cell contamination is a rare event in prenatal diagnosis. The frequency with which any given polymorphism is distinctive is directly correlated to its prevalence in the population. Hence, since the polymorphisms on bands 3c, 13p and 21s are the most prevalent in the population, comparison of these maternal bands with the corresponding fetal ones is most likely to yield a distinctive pattern between a mother and her female fetus. However, in light of the rarity of maternal cell contamination, comparison of chromosomal polymorphisms is not cost‐effective for all cases, and is recommended only for high‐risk situations such as prenatal diagnosis of recessive or X‐linked diseases, where maternal age is over 40, or when amniotic fluid is grossly bloody.
Ultrasound movement patterns of fetuses with chromosome anomalies
Authors: Boué J. , Vignal P. , Aubry J. P. , Aubry M. C. , Mac Aleese J. 
Published: March 2007

AbstractFetal movements were examined by ultrasound in 24 pregnancies in which an abnormal karyotype was detected in fetal cells and compared to ultrasound fetal movement patterns in normal pregnancies. The main features in fetuses with chromosome anomalies observed at 18–20 weeks of gestation are the persistence of global, jerky movements with twitches usually seen at 13–14 weeks of gestation in normal fetuses. This fetal motor behaviour is inconstant in trisomy 21. In trisomy 18 the hand deformities are easily detected.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21‐hydroxylase deficiency by amniotic fluid steroid analysis
Authors: Hughes I. A. , Laurence K. M. 
Published: March 2007

AbstractThe concentration of 17OH‐progesterone was measured in second trimester amniotic fluid samples from 12 mothers who previously had had an infant with congenital adrenal hyper‐plasia due to 21‐hydroxylase deficiency. In 4 affected pregnancies, the concentrations were more than 2 S.D. higher than those determined in 44 samples from normal pregnancies (mean ± S.D., 8·1 ± 2·4 nmol/1). The remaining 8 pregnancies were predicted to be unaffected based on the results of amniotic fluid concentrations within the normal range. In each instance, the infant was normal. The results indicate that measurement of amniotic fluid 17OH‐progester‐one concentrations during the second trimester is an accurate prenatal test for 21‐hydroxylase deficiency. The results should be supplemented with determination of fetal sex by karyotype analysis on the amniotic fluid cells.
Amniotic fluid pregnancy‐specific β1‐glycoprotein (SP1) in Meckel's syndrome: A new test for prenatal diagnosis?
Authors: Heikinheimo Markku , Aula Pertti , Rapola Juhani , Wahlström Torsten , Jalanko Hannu , Seppälä Markku 
Published: March 2007

AbstractAmniotic fluid levels of pregnancy‐specific β1‐glycoprotein (SP1) were elevated in four pregnancies with Meckel's syndrome at 16 and 26 weeks, and the levels of hCG were also elevated in three out of four cases. These findings suggest a potential new application of SP1 measurement for prenatal diagnosis.
46,XX/46,XY chromosome complement in amniotic fluid cell culture followed by the birth of a normal female child
Authors: Hunter Alasdair , Brierley Kathy , Tomkins Darrell 
Published: March 2007

AbstractExperience indicates that the most likely explanation for a mixture of 46,XX/46,XY cells in an amniotic fluid sample is that of maternal cell contamination and that a normal male child is to be expected at birth. We report the birth of a normal female child following prenatal diagnosis of such a mixture. Extensive postnatal studies failed to reveal an XY cell line. The possible sources of the XY cell line are discussed, as are the various techniques that were applied in an effort to discover it's origin. Cross‐contamination of samples could be ruled out and there was no evidence of an unsuspected twin pregnancy. It is clear from this case that not all 46,XX/46,XY results obtained in amniotic fluid can be assumed to represent maternal cell contamination and some effort should be made to eliminate other potential sources for such a mixture.
A simple procedure for obtaining fetal chromosome preparations from bloodstained amniotic fluid
Authors: Watt Jessie L. , Laing Elizabeth J. 
Published: March 2007

AbstractTwo patients undergoing amniocentesis are described in which the resulting amniotic fluid was unavoidably bloodstained. The results suggest that it may be beneficial in such cases to reserve a small volume of bloodstained liquor for culture with phytohaemagglutinin since the presence of a few fetal lymphocytes can lead to a prenatal diagnosis within 72 h.
Prenatal detection of the autosomal dominant type of congenital hydronephrosis by ultrasonography
Authors: McCormack Michael K. 
Published: March 2007

AbstractWe report a family with clearly defined two generation, and probable four generation uropathy due to a congenital malformation of the genitourinary system. There appears to be variation in expression within this family and a severely affected fetus was detected by ultrasonography at 31 weeks gestation.
Sacrococcygeal teratoma: Prenatal diagnosis with elevated alphafetoprotein and acetylcholinesterase in amniotic fluid
Authors: Hecht Frederick , Hecht Barbara Kaiser , O'Keeffe Daniel 
Published: March 2007

AbstractA sacrococcygeal teratoma was suspected by ultrasound examination at 24 weeks gestation. The amniotic fluid alphafetoprotein was markedly elevated, as was maternal serum AFP. Gel electrophoresis of amniotic fluid showed an acetylcholinesterase band. Labour began at 25 weeks gestation and the chromosomally normal male fetus was found to have a sacrococcygeal teratoma equal to three‐quarters of the weight of the fetus.
Separation of amniotic fluid cell types in primary culture by percoll density gradient centrifugation
Authors: Cousineau J. , Potier M. , Dallaire L. , Melanḑlon S. B. 
Published: March 2007

AbstractAmniotic fluid cells obtained by transabdominal amniocentesis at 15–17 weeks of gestation and cultured for 15 and 21 days were separated into three fractions by density gradient centrifugation in Percoll. Each fraction (or peak) corresponded to the following densities: peak A, 1·02–1·03 g/ml; peak B, 1·04–1·05; peak C, 1·05–1·06. Peak A was composed of both non‐viable and viable cells; the latter adopted the morphology of epithelial cells in culture. Peak B contained a mixture of fibroblasts and epithelioid cells and peak C had only epithelioid cells. The variability of N‐acetyl‐β‐hexosaminidase and alkaline phosphatase activities was reduced in peaks B and C as compared to that of peak A and of unseparated cells suggesting that more defined and homogeneous cell types for enzymatic determinations can be obtained by centrifugation in Percoll density gradient. In prenatal diagnosis of biochemical defects, the separation of cells would permit a more precise diagnosis by eliminating enzyme variability due to the presence of different cell types or non‐viable cells.
Measurement of cholinesterases in amniotic fluid using a naphthyl acetate as substrate: A possible initial test for prenatal diagnosis of open neural tube defects
Authors: Simpson Nancy E. , Bone Miriam , Girard Kathleen 
Published: March 2007

AbstractA quantitative method for cholinesterases in amniotic fluid using the non‐specific substrate α naphthyl acetate and the cholinesterase‐specific inhibitor, eserine, is described. This assay was used to test 671 samples of amniotic fluid. The diagnoses for fetal ONTDs, based on the levels of AChE + ChE, were compared with those made for the same samples by the AFP method. Correct diagnoses were made by both methods with amniotic fluid from 35 women carrying fetuses with ONTDs and 631 carrying normal fetuses. There were five false‐positive test results for normal fetuses by both methods when the cut‐off points were 5 standard deviations above the mean for AFP and above the upper limit of the normal range (7. 5 milliunits) for cholinesterase (AChE + ChE). None of the false‐positive samples from either method had the acetylcholinesterase band of activity characteristic of ONTDs after gel electrophoresis.In addition to the above 671 samples, 37 pregnancies with serious fetal abnormalities other than ONTDs were tested. Two were identified by both the AFP and AChE + ChE methods, two more by AFP assay and one other by the AChE + ChE assay.
Prenatal diagnosis of cystic fibrosis by methylumbelliferylguanidinobenzoate protease titration in amniotic fluid
Authors: Brock David J. H. , Hayward Caroline 
Published: March 2007

AbstractAmniotic fluids were obtained from 19 mothers who had previously given birth to a child with cystic fibrosis. Measurement of methylumbelliferyl guanidinobenzoate (MUGB) reactive proteases suggested that all 19 would have unaffected babies. Amongst the first 10 cases to come to term there were 5 infants with cystic fibrosis. It is concluded that MUGB protease titration is not suitable for the early prenatal diagnosis of cystic fibrosis.
Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia
Authors: Firgaira Frank A. , Cotton Richard G. H. , Danks David M. , Fowler Kerry , Lipson Anthony , Yu John S. 
Published: March 2007

AbstractAssay of dihydropteridine reductase in amniotic cells from a fetus at risk for malignant hyperphenylalaninemia is described. A normal result was obtained, this was confirmed after delivery. On two‐dimensional polyacrylamide gel electrophoresis the enzyme from amniotic cells showed the same mobility as the mature liver reductase.
Alpha‐fetoprotein and ultrasound scanning in the prenatal diagnosis of Turner's Syndrome
Authors: Toftager‐Larsen K. , Benzie R. J. , Doran T. A. , Miskin M. , Allen L. C. , Becker L. 
Published: March 2007

AbstractBased on data from 5 cases of fetal cystic hygroma (4 cases of Turner's Syndrome and one case of Trisomy 18) and one case of Down's Syndrome with severe subcutaneous oedema, it is concluded that amniotic fluid alpha‐fetoprotein (AFP) is normal or only slightly elevated in such cases whereas AFP in fluid from the cystic structures is very high. Reported high values of ‘amniotic fluid’ AFP are therefore likely to have been obtained from fluids accidentally drawn from the cystic structures. Fluids from the two sources cannot be distinguished from each other visually. In support of this theory is that the maternal serum AFP was found to be normal in all cases where investigated. In the diagnosis of cystic hygromata detailed ultrasound scanning will reveal the correct diagnosis.
Mid‐trimester fetal ultrasound: Diagnostic dilemmas
Authors: Corson Virginia L. , Sanders Roger C. , Johnson Timothy R. B. , Winn Kevin J. 
Published: March 2007

AbstractTwo cases are reported in which an unusual ultrasound finding preceded diagnostic amniocentesis and led to further work‐up. In both cases a decision was made to terminate the pregnancy. One fetus in which a neck mass was detected by ultrasound was shown to be normal on post‐mortem examination. The second fetus was aborted because of Rh sensitization and had the abnormality seen by ultrasound. However, this lesion, calcified intrahepatic plaques, had no presumed pathological significance. These cases suggest caution in the interpretation of results obtained with the new technologies used for prenatal diagnosis.
Prenatal diagnosis, fetal pathology and cytogenetic analysis of A 46,XX/47,XX, + 15 mosaic
Authors: Gimelli G. , Cuoco Cristina , Porro E. , Rehder Helga , Fraccaro M. 
Published: March 2007

AbstractMosaic trisomy 15 was prenatally diagnosed on amniotic fluid cells from two consecutive amniocenteses and was confirmed on cells from five different fetal tissues. The proportion of normal versus trisomic cells was consistently higher in the amniotic cell cultures and‐with one exception‐in the fetal tissues, while serial subcultures gave different results.The slightly atypical external features and internal malformations of the affected fetus as compared to the only clinical observation from the literature are not unusual enough to allow the delineation of a specific malformation pattern.
Genetic amniocentesis in twin pregnancy
Authors: Bovicelli L. , Michelacci L. , Rizzo N. , Orsini L. F. , Pilu G. , Montacuti V. , Bacchetta M. , Pittalis M. C. 
Published: March 2007

AbstractAmong 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal levels of α‐fetoprotein. Only one patient spontaneously aborted liveborn immature twins 30 days after the procedure.The technique used to obtain samples of fluid is described in detail and the need for additional counselling prior to amniocentesis in twins is stressed.
Variables influencing growth and morphology of colonies of cells from human amniotic fluid
Authors: Seguin Lana R. , Palmer Catherine G. 
Published: March 2007

AbstractGrowth of cells from amniotic fluid was studied with respect to cell concentration in the inoculum, blood contamination of the fluid, fluid colour, fluid clarity, gestational age of the pregnancy, and growth factors. Dependent variables measured were colony formation, colony size, and colony morphology after 7, 11, and 14 days of culture. The following conclusions were established from these studies: small sample volumes are the most efficient for producing colonies; cells from very bloody or dark brown fluids have a slower rate of growth; growth of cells from cloudy (noncontaminated) fluids is better than growth of cells from clear fluids; the proportion of colonies that are epithelioid varies with gestational age; the stimulating effect of 100 ng/ml fibroblast growth factor on cells from amniotic fluid was confirmed.
Fetal karyotypes from fetoscopy blood samples
Authors: Metaxotou C. , Antsaklis A. , Panagiotopoulou P. , Tsenghi Ch. , Benetou M. , Mavrou A. , Matsaniotis N. 
Published: March 2007

AbstractThe fetal karyotype was determined in 42 out of 45 cases from fetal blood obtained by fetoscopy for prenatal diagnosis of β‐thalassemia. The procedure described is quick and reliable and it is recommended for women over 35 years of age undergoing prenatal diagnosis for haemoglobinopathies.