bluuebunny/crossref_metadata_2025_split huggingface dataset:
Second trimester prenatal diagnosis of the Jarcho‐Levin syndrome
Authors: Tolmie John L. , Whittle Martin J. , McNay Margaret B. , Gibson Angus A. M. , Connor J. M. 
Published: March 2007

AbstractThe Jarche–Levin syndrome (spondylothoracic dysostosis) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects; other visceral malformations are occasionally present. Most cases die in infancy due to respiratory failure. In this report we describe two cases in one family from the United Kingdom. Prenatal diagnosis by ultrasound examination during the second trimester was successfully accomplished in the second case.
Prenatal diagnosis of medium‐chain acyl‐coenzyme A dehydrogenase deficiency
Authors: Bennett M. J. , Allison F. , Lowther G. W. , Gray R. G. F. , Johnston D. I. , Fitzsimmons J. S. , Manning N. J. , Pollitt R. J. 
Published: March 2007

AbstractA fatal case of medium‐chain acyl‐coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non‐ketotic dicarboxylic aciduria. Cultured skin fibroblasts released 14CO2 from [1–14C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis.
Prenatal diagnosis of congenital non‐bullous ichthyosiform erythroderma (lamellar ichthyosis)
Authors: Perry Tracy B. , Holbrook Karen A. , Hoff Mary S. , Hamilton Emily F. , Senikas Vyta , Fisher Chris 
Published: March 2007

AbstractWe report the first positive prenatal diagnosis ofcongenital non‐bullous ichthyosiform erythroderma or lamellar ichthyosis. Fetal skin samples were obtained by fetoscopy at 21 weeks' gestation and examined by light and electron microscopy. Light microscopy revealed a thickened interfollicular epidermis with multiple layers of flattened cells and excessive keratinization of the epidermal lining of the follicular infundibulum. Electron microscopy of the thickened epidermis revealed granular cells that contained larger‐than‐normal keratohyalin granules and multiple layers of parakeratotic cornified cells. Although there was regional variation in the degree of interfollicular keratinization, follicles from all regions showed greater and more complete keratinization, indicating that they express the abnormality early enough in development to permit prenatal diagnosis at about 20 weeks' gestation.
Modulation of echocardiographic parameters by fetal behaviour
Authors: Arduini D. , Rizzo G. , Pennestri F. , Romanini C. 
Published: March 2007

AbstractIn order to verify if fetal behavioural states could affect cardiac parameters, thirty‐one healthy fetuses were studied near term. We evaluated systolic time intervals (pre‐ejection period and ventricular ejection time), M‐mode parameters (fractional shortening and mean circumferential shortening) and Doppler flow velocities (mean peak velocity of aortic and pulmunary arteries) of left and right ventricles. Both fetal breathing movements and fetal heart rate patterns seem to modify these parameters with an increase of cardiac contractility during active phases of fetal behaviour.
Early prenatal diagnosis of A lethal syndrome of multiple congenital contractures
Authors: Kirkinen P. , Hervat R. , Leisti J. 
Published: March 2007

AbstractAn ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high‐risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.
Prenatal diagnosis of the fragile X using thymidine induction
Authors: Sutherland Grant R. , Baker Elizabeth , Purvis‐Smith Stuart , Hockey Athel , Krumins Ed , Eichenbaum Sam Z. 
Published: March 2007

AbstractEleven pregnancies in ten patients at risk for the fragile X were monitored by amniocentesis or chorion villus biopsy and induction of the fragile site using thymidine, methotrexate and FUdR. Three female fetuses and one male fetus were found to have the fragile X. The results obtained using thymidine induction were superior to those using methotrexate induction and probably better than those obtained using FUdR induction.
A prospective study of spontaneous miscarriage in ultrasonically normal pregnancies and relevance to chorion villus sampling
Authors: Liu David T. Y. , Jeavons B. , Preston C. , Pearson D. 
Published: March 2007

AbstractA total of 1068 patients were examined by ultrasound to ensure normality of pregnancy and followed prospectively from booking until 28 weeks. The spontaneous miscarriage rate was 2.7 per cent occuring within the first 16 weeks. Threatened miscarriage was associated with a 38 per cent fetal loss. Miscarriage was less likely as pregnancy advanced. The reduction in subsequent miscarriage rate before 11 weeks and from 11 weeks onwards is statistically significant (p<0.001). Gravidity, maternal age and a history of previous fetal loss did not contribute significantly to the miscarriage rate. Patients with a history of fetal loss were more likely to experience a threatened miscarriage. The relevance of these findings to chorion villus sampling is discussed.
Prenatal diagnosis of trisomy 20 mosaicism indicating an extra embryonic origin
Authors: Baldinger Shari , Millard Cindy , Schmeling David , Bendel Richard P. 
Published: March 2007

AbstractAn additional case of amniotic fluid trisomy 20 mosaicism is presented. After careful counselling, the pregnancy continued and a phenotypically normal female was delivered. This case of amniocyte mosaicism establishes the source of aneuploid cell line as amnion. Since an extra‐embryonic origin of the mosaicism has been confirmed, this should be carefully considered as a real possibility in counselling such families.
Listeriosis: A cause of non‐immune hydrops fetalis
Authors: Gembruch U. , Niesen M. , Hansmann M. , Knöpfle G. 
Published: March 2007

AbstractA case of prenatally diagnosed non‐immune hydrops fetalis, that was later shown to be caused by listeriosis, is presented, and the clinical course, as well as the appropriate diagnostic and therapeutic procedures are described. We conclude, that listeriosis should be excluded, whenever a non‐immune hydrops fetalis is associated with septicemia, influenza‐like illness and fever of unknown origin.
The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma
Authors: Reuss A. , Pijpers L. , Schampers P. T. F. M. , Wladimiroff J. W. , Sachs E. S. 
Published: March 2007

AbstractThe prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling.
Ultrasound evaluation of pregnancies at risk for homozygous α‐thalassaemia‐1
Authors: Ghosh A. , Tang M. H. Y. , Liang S. T. , Ma H. K. , Chan Vivian , Chan T. K. 
Published: March 2007

AbstractTwenty‐six pregnant Chinese women who were at risk of giving birth to a fetus affected with homozygous α‐thalassaemia‐1 were examined serially by ultrasound. Six of these 26 pregnancies were affected. In one third of the affected pregnancies progressive fetal ascites appeared before 24 weeks gestation and these pregnancies were terminated. In the remaining two thirds abnormal estimated fetal weight‐placental volume (EFW‐PV) ratio and fetal growth retardation as evidenced by a falling biparietal diameter (BPD), femur length (FL) but a normal abdominal circumference (AC) was apparent by 28 weeks gestation. Increased transverse cardiac (TC) diameter was another consistent finding but appeared late. All these features appeared before the onset of fetal ascites. A normal EFW‐PV ratio and fetal growth until 28 weeks gestation was a reassuring sign of normality. Abnormal EFW‐PV ratio was the earliest sign to appear in affected pregnancies and a normal ratio until 28 weeks gestation had a 100 per cent predictive value.
Maternal cell contamination in cultured chorionic villi: Comparison of chromosome Q‐polymorphisms derived from villi, fetal skin, and maternal lymphocytes
Authors: Williams John , Medearis Arnold L. , Chu Weimei H. , Kovacs George D. , Kaback Michael M. 
Published: March 2007

AbstractMaternal cell contamination of chorionic villi (CV) samples used for first trimester prenatal diagnosis can cause obvious and/or unrecognized diagnostic dilemmas. The purpose of this investigation is to assess the frequency of maternal cell contamination (MCC) in chorionic villus samples and to evaluate selected parameters which might predict where contamination is more likely to have occurred. Maternal lymphocytes, chorionic villi from ultrasonically directed transcervical catheter aspiration, and fetal tissue were obtained at 8–11 weeks gestation from 45 patients undergoing elective termination. Quinacrine (Q) banded metaphases were compared from duplicate direct preparations of chorionic villi; cultured chorionic villi, fetal fibroblast tissue cultures, and maternal lymphocyte cultures. Q‐polymorphisms in metaphase chromosomes were 100 per cent concordant between fetal tissue and direct CV preparation. However, evidence for maternal cell contamination occurred in 13.1 per cent of cultured chorionic villi preparations where polymorphisms were found to be identical between maternal and cultured CV and both distinct from fetal tissue preparations. Where MCC was identified, it was noted that CV cell cultivation interval was prolonged (24.2±6.8 days) compared with non‐contaminated cultures (14.1±4.4 days) (p <0.05).We conclude that maternal cell contamination is a significant problem with chorionic villus sampling. Where direct preparations are not employed or when cultures are ‘slow growing’, MCC may be a significant and unrecognized complication re: fetal diagnosis. Direct preparations, multiple cultures, quinacrine banding, and maternal Q‐polymorphism comparisons can minimize diagnostic dilemmas secondary to maternal cell contamination. Q‐polymorphism comparisons between maternal and fetal chromosomes should be included in all instances where cultured chorionic villi are utilized for fetal diagnosis and where direct preparations are not available.
Krabbe's disease: First trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues
Authors: Giles L. , Cooper A. , Fowler B. , Sardharwalla I. B. , Donnai P. 
Published: March 2007

AbstractChorionic villi obtained during the first trimester from a pregnancy at risk for Krabbe's disease were shown to have reduced cerebroside‐β‐galactosidase (E.C. 3.2.1.46) activity using the artificial substrate trinitrophenylaminolauryl galactocerebroside (TNPAL‐galactocerebroside). Assay of this enzyme in cultured amniotic fluid cells following amniocentesis, performed at the patient's request confirmed the diagnosis. Termination of pregnancy was performed and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of Krabbe's disease, thus confirming that chorionic villi can be used for first trimester diagnosis of this condition.
First Trimester Prenatal Diagnosis of Metabolic Diseases: A survey in countries from the European Community
Authors: Poenaru Livia 
Published: March 2007

AbstractThis paper presents the collected data concerning First Trimester Prenatal Diagnosis of Metabolic Diseases performed in different countries of the European Community by enzymatic methods using chorionic villi.In all, 258 diagnoses were made for 38 different metabolic diseases and 56 (22 per cent) affected fetuses have been detected.Several difficulties were encountered with regard to chorionic villus material or enzyme expression in this tissue. We stress the conditions necessary for avoiding errors in diagnosis.
Karyotypic differences between cells from placenta and other fetal tissues
Authors: Verjaal M. , Leschot N. J. , Wolf H. , Treffers P. E. 
Published: March 2007

AbstractSix cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: (a) 48,+7,+18 resp. 47,+18. (b) 46, i(18q) resp. 46, del18(p11). (c) 46, XX resp. 46, XX/47, XXX. (d) 46, X, Yq+ and 46, XY resp. 46, XY. (e) 46/47,+12 resp. 46. (f) 46/47,+5 resp. 46. These differences were found in both early and term pregnancies. Care should be taken in deducing the fetal karyotype from the chromosomal pattern of placental cells.
Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells
Authors: Rocchiccioli F. , Aubourg P. , Choiset A. 
Published: March 2007

AbstractWe report a gas chromatographic‐mass spectrometric method which allows the very long chain fatty acids content of trophoblastic tissue to be directly measured in samples collected by biopsy between 8 and 11 weeks of gestation. This method has been successfully applied to the detection of fetal Zellweger syndrome in two pregnant women who had previously delivered affected infants. In one of them, increased concentrations of C26:0 (0.254 versus 0.108±0.035 μ/mg proteins) and C24:0 (1.32 versus 0.815±0.325 μ/mg proteins) in trophoblast indicated that the fetus had Zellweger syndrome, a diagnosis confirmed by pathological findings after abortion. In the second case, the pregnancy was allowed to proceed, on the basis of normal concentrations of very long chain fatty acids in trophoblastic tissue, and its outcome was actually a healthy newborn.
Incidence of fetal chromosome abnormalities in 2264 low‐risk women
Authors: Tabor Ann , Philip John 
Published: March 2007

AbstractAmong a population of 6305 pregnant women, aged 25 to 34 years and estimated to be at no increased risk of genetic disease in the fetus, 4606 women participated in a randomized controlled trial of genetic amniocentesis between 1980 and 1984.In the study group having amniocentesis (2264 women), 23 fetal chromosome abnormalities (1.0 per cent) were found: eight autosomal aneuploidies, seven sex chromosome aneuploidies, seven balanced structural rearrangements and one case of a marker some. The structural rearrangements and the marker chromosome were all shown to be inherited. The study group seemed representative for the whole population of younger women at low genetic risk. Therefore, a 1.0 per cent total rate of fetal chromosome abnormalities, consisting of one‐third autosomal aneuploidies, one‐third sex chromosome aneuploidies and one‐third structural rearrangements, may be expected in the second trimester in younger low‐risk women.In the same period of time, 562 women in the same age group were offered amniocentesis because of an estimated increased risk of fetal genetic disease. The total rate of fetal chromosome abnormality in this ‘high‐risk’ group was 0.9 per cent and thus no different from the rate in the low‐risk group.
High resolution proton NMR spectroscopy of human amniotic fluid
Authors: Nelson T. R. , Gillies R. J. , Powell D. A. , Schrader M. C. , Manchesters D. K. , Pretorius D. H. 
Published: March 2007

AbstractHuman amniotic fluid (HAF) is a dynamic system whose characteristics depend on continuous interchanges between fetal and maternal circulations. HAF reflects not only the environment of the fetus but may also provide information about fetal development or pathology. The concentration of HAF constituents varies with gestational age and pathological states. The number of the compounds currently implicated in fetal developmental pathology are relatively few. Currently used assay methods are not adequate to totally explain or predict the complex biochemistry of the fetus. The purpose of this work was to investigate HAF with NMR spectroscopy. In the present study HAF was obtained from 47 women undergoing routine amniocentesis. Cells were separated for karyological analysis and the supernatant was acid‐extracted, lyophilized and re‐suspended in D20 resulting in a concentration increase over native fluid. 1H NMR spectra were obtained at 360 MHz and 60 MHz. Eighteen compounds including several amino acids, were identified using parallel reference and standard addition protocols. NMR spectroscopy detected compounds of known clinical importance including glucose, leucine, isoleucine, lactate and creatinine. In conclusion, we have demonstrated that a number of physiologically relevant compounds are readily observable in HAF using 1H NMR spectroscopy. This technique can currently provide valuable information regarding HAF composition and has the potential of being used in vivo in the future.
Prenatal detection of a de novo duplication of the long arm of chromosome 7
Authors: Howard P. J. 
Published: March 2007

AbstractAmniocentesis was performed for maternal age and subsequent cytogenetic studies revealed a male fetus with a mosaic karyotype, one cell line having a duplication for the long arm of chromosome 7.The pregnancy was terminated and the two cell lines confirmed in varying proportions in the fetal tissues. External examination of the fetus revealed only growth retardation and a high forehead. The lack of phenotypic defects and the possible aetiology of the de novo rearrangement are considered.
Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease
Authors: Colley N. , Knott P. D. , Gould S. J. 
Published: March 2007

AbstractWe present a case in which an apparent omphalocele, diagnosed at 30 weeks gestation ultrasound, led to identification of fetal trisomy 18 and congenital heart disease. At delivery, the fetus had the features of trisomy 18 and congenital heart disease but the omphalocele was absent. We suggest that the appearances seen are easily confused with a small omphalocele and could potentially result in unnecessary further investigations being performed.
A simple method for preparing prometaphase chromosomes from amniotic fluid cell cultures
Authors: Cheung Sau W. , Crane James P. , Johnson Ann , Simms Lyn , Reid Joan 
Published: March 2007

AbstractA simple method for preparing prometaphase chromosomes from amniotic fluid cell cultures is described. The technique is based upon several key steps including: (1) reduced colcemid concentration, (2) reduced exposure to trypsin‐EDTA, and (3) maintaining cells in single suspension by adjusting cell concentration appropriately. Chromosomes with banding resolution up ot 800 bands per haploid set can be routinely produced. The described methodology is particularly useful in defining and establishing the clinical significance of subtle structural aberrations.
Prenatal diagnosis of tuberous sclerosis: The use of fetal echocardiography
Authors: Platt Lawrence D. , Devore Greggory R. , Horenstein Janet , Pavlova Zdena , Kovacs Bruce , Falk Rena Ellen 
Published: March 2007

AbstractFetal echocardiography was used to identify a cardiac rhabdomyoma in the second trimester. The combination of this finding with a maternal history of Tuberous Sclerosis allowed the patient and her family to make a more educated decision regarding termination of the pregnancy. Post mortem examination of the fetus confirmed the prenatal findings. This case report demonstrates the importance of ultrasound evaluation of the fetus at risk of recurrence of a genetic syndrome in which one or more anatomical defects might be seen.
Comparison of maternal and fetal chromosome heteromorphisms to monitor maternal cell contamination in chorionic villus samples
Authors: Olson Susan , Buckmaster John , Bissonnette John , Magenis Ellen 
Published: March 2007

AbstractMaternal cell contamination (MCC) presents a potential problem in the analysis of chorionic villus sampling (CVS) preparations for early prenatal diagnosis by chromosomal, biochemical and molecular methods. Through the comparison of fluorescent chromosome variants from CVS and maternal cells, we found three out of 50 samples to have MCC. One of these was observed on a direct preparation. Routine chromosome heteromorphism analysis suggested as a reliable method for monitoring MCC in CVS specimens.
The concurrence of fetal supraventricular tachycardia and obstruction of the foramen ovale
Authors: Buis‐Liem T. N. , Ottenkamp J. , Meerman R. H. , Verwey R. 
Published: March 2007

AbstractFetal supraventricular tachycardia (FSVT) is a cardiac arrhythmia that bears a high mortality rate. In the majority of cases no morphological anomalies are found and death is caused by congestive heart failure. This report presents two cases of FSVT in which cross sectional echocardiography revealed obstruction of the foramen ovale with dilatation of the right heart without structural cardiac anomalies. After birth sinus rhythm re‐established under digitalis medication in both cases. The association between premature obstruction of the foramen ovale and unexplained intrauterine death in the third trimester of gestation is suggested.
Neonatal lung function following mid‐trimester amniocentesis
Authors: Hunter A. G. W. 
Published: March 2007

AbstractThree hundred and fifty‐four women who underwent midtrimester genetic amniocentesis were matched for age, parity, indication, and smoking history, with an equivalent number of women who had declined the procedure, for the purpose of comparing the neonatal respiratory status of their offspring. There was no evidence that the infants exposed to genetic amniocentesis were compromised.
Psychological impact of amniocentesis on low‐risk women
Authors: Tabor Ann , Jønsson Majken Holm 
Published: March 2007

AbstractThe study comprised 85 young (25–34 years old) women who underwent genetic amniocentesis, 80 comparable young women who had an ultrasoundscan at the same gestational age and 74 women (35–40 years old) who had amniocentesis. The State‐Trait Anxiety Inventory and Visual Analogue Scales concerning anxiety and worry were used on four occasions to evaluate psychological changes during pregnancy.The anxiety level in the younger women decreased after amniocentesis and a further decrease was observed after the results were communicated to them. However, similar changes were seen in the group of younger women after ultrasonography, and there was no difference in anxiety level between the two groups of younger women in the 16th or in the 35th week of pregnancy. Thus, in younger women at low genetic risk amniocentesis was neither anxiety‐relieving, nor anxiety‐creating.The level of anxiety before amniocentesis was not higher in the older than in the younger women having amniocentesis. However, in the younger women a significant decrease in anxiety was seen as soon as amniocentesis had been performed, while in the older women this decrease was delayed until after the results were known.
Chromosomal mosaicism confined to chorionic tissue
Authors: Schulze B. , Schlesinger Ch. , Miller K. 
Published: March 2007

AbstractChorionic villus samples from two healthy pregnant females were obtained for first trimester fetal diagnosis. The karyotypes were 46, XX/47, XX, +3 and 46, XX/47, XX, +15, respectively. In both cases fibroblast cultures after termination of pregnancy were shown to have normal karyotypes.