bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antenatal detection of a single umbilical artery: does it matter?
Authors: Gornall A. S. , Kurinczuk J. J. , Konje J. C. 
Published: February 2003

AbstractThe presence of a single umbilical artery is recognised as a soft marker for congenital anomalies, aneuploidy, earlier delivery and low birthweight. Most of the available data are derived from case series or highly selected populations and are therefore likely to be unrepresentative. In this retrospective case‐comparison study, we firstly aimed to determine the incidence of a single umbilical artery in an unselected population and secondly to examine the clinical significance of this soft marker. Over a 40‐month period, 107 cases were identified from a cohort of 35 066 births giving an incidence of 3.1 per 1000 total births and late pregnancy losses. The antenatal detection rate was only 30%. Compared to fetuses with normal cord vasculature, fetuses with a single umbilical artery were more likely to be delivered at an earlier gestation and to weigh less, were 1.7 times more likely to be delivered by a Caesarean section and 19% of the cases had a congenital anomaly. The perinatal mortality was 49.0 per 1000 total births, which was 6 times higher than the background hospital rate. The presence of a single umbilical artery is associated with a poorer perinatal outcome compared to that in fetuses with three vessels in the cord. Unfortunately, the antenatal detection rate is poor. Recognising the importance of this soft marker in counselling and management of pregnancies should provide the stimulus to improve detection rates. Copyright © 2003 John Wiley & Sons, Ltd.
Fetal supraventricular tachycardia: a role for amiodarone as second‐line therapy?
Authors: Jouannic Jean‐Marie , Delahaye Sophie , Fermont Laurent , Le Bidois Jérôme , Villain Elisabeth , Dumez Yves , Dommergues Marc 
Published: February 2003

AbstractObjectiveThe aim of this study was to evaluate the role of amiodarone for the prenatal treatment of hydropic fetuses with supraventricular tachycardia.MethodsA group of 26 hydropic fetuses with supraventricular tachycardia was studied retrospectively.ResultsTwenty‐five fetuses received transplacental treatment. The overall prenatal conversion rate was 60%. Nine fetuses were converted to sinus rhythm using either flecainide (n = 7) or amiodarone (n = 2) as first line therapy, whilst digoxin alone or in association with sotalol failed to restore sinus rhythm in all cases. After first‐line therapy, supraventricular tachycardia persisted in 10 fetuses. Nine fetuses received amiodarone alone or in association with digoxin as second‐line therapy, five of whom were converted to sinus rhythm. Among the 11 live neonates treated by amiodarone in utero, 2 (17%) presented an elevated thyroid stimulating hormone at day 3–4. These two infants received thyroid hormone substitution therapy and had a normal outcome.ConclusionWhen first‐line therapy fails to restore sinus rhythm in hydropic fetuses with supraventricular tachycardia, amiodarone therapy should be considered as it allows a substantial number of fetuses to be converted prenatally. Copyright © 2003 John Wiley & Sons, Ltd.
Prenatal diagnosis of occipital encephalocele, mega‐cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p
Authors: Wu Yi‐Cheng , Fang Jye Siung , Lee Kuei‐Fang , Estipona Judy , Yang Man‐Li , Yuan Chiou‐Chung 
Published: February 2003

AbstractWe present the first case of a fetus with pure tetrasomy 20p proven by cord‐blood sampling at 24 weeks of gestation. This case was diagnosed in utero with multiple congenital anomalies including occipital encephalocele, mega‐cisterna magna, mesomelic shortening, and clubfeet. An analysis of GTG‐banded chromosomes of 20 metaphase cells was performed. Female karyotype [47,XX, +i(20)(p10)] was revealed in all cells. Pure tetrasomy 20p was confirmed using fluorescent in situ hybridization (FISH) with a telomere probe for chromosome 20p in all seven metaphase cells. The pregnancy was terminated because of associated multiple anomalies and severe oligohydramnios. The postmortem examination confirmed the prenatal diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.
First‐trimester maternal serum PAPP‐A, SP1 and M‐CSF levels in normal and trisomic twin pregnancies
Authors: Bersinger N. A. , Noble P. , Nicolaides K. H. 
Published: February 2003

AbstractObjectiveTo study PAPP‐A and SP1 for biochemical trisomy screening in twin pregnancies and to investigate the role of maternal and placental compartments in marker production by comparing the levels of the decidual cytokine M‐CSF with the PAPP‐A and SP1 from the placenta.MethodsThirteen twin pregnancies with at least one chromosomally abnormal fetus were compared with 68 normal twin pregnancies. Sera were obtained between 11 + 3 and 13 + 6 weeks of gestation, and PAPP‐A, SP1 and M‐CSF levels were determined by immunoassay. These concentrations were also compared with gestation‐matched groups of 18 singleton normal pregnancies and 18 singleton Down syndrome pregnancies.ResultsPAPP‐A and SP1, but not M‐CSF, levels were higher in normal twin pregnancy than in normal singleton pregnancy. SP1 levels, but not PAPP‐A, correlated to M‐CSF. PAPP‐A, but not SP1, levels were reduced in abnormal twin pregnancies, with an increasing effect according to the number of affected fetuses, and were more pronounced in pregnancies with trisomy 18 or 13 than in trisomy 21 fetuses. M‐CSF was inconsistent, with a trend towards increased levels in trisomy 21.ConclusionPAPP‐A remains the best biochemical screening marker for fetal trisomies 21, 18 or 13, in singleton as well as in twin pregnancy. In contrast to SP1, its site of production is not likely to be restricted to the placenta. The role of the (maternally produced) M‐CSF remains to be further investigated. Copyright © 2003 John Wiley & Sons, Ltd.
Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy
Authors: Kauffmann Edouard , Roman Horatiu , Barau Georges , Dumas Hervé , Laffitte Annick , Fourmaintraux Alain , Bintner Marc , Randrianaivo Hanitra 
Published: February 2003

AbstractThe Jarcho–Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho–Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X‐ray exploration, high‐resolution spiral computed tomography and autopsy confirmed the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.
Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations
Authors: Chuang Louise , Kuo Pao‐Lin , Yang Hsiao‐Bai , Chien Chung‐Ho , Chen Pei‐Yi , Chang Chiung‐Hsin , Chang Fong‐Ming 
Published: February 2003

AbstractThe presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable facial dysmorphisms and identical cytogenetic abnormality—a derivative (7) t(1;7) (q32;q32) inherited from the father. The proband 1 showed a small mouth, a single median eye and a proboscis above the eye, while the proband 2 showed hypotelorism, a flat nose, cleft lip and cleft palate. Both fetuses also had alobar holoprosencephaly. Haploinsufficiency of the sonic hedgehog gene at 7q36 does account for the occurrence of holoprosencephaly in the two fetuses with a deletion of distal 7q (7q32 → qter). Copyright © 2003 John Wiley & Sons, Ltd.
Prenatal diagnosis of a small supernumerary, XIST‐negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus
Authors: Le Caignec C. , Boceno M. , Joubert M. , Winer N. , Aubron F. , Fallet‐Bianco C. , Rival J. M. 
Published: February 2003

AbstractMarker or ring X [r(X)] chromosomes of varying size are often found in patients with Turner syndrome. Patients with very small r(X) chromosomes that did not include the X‐inactivation locus (XIST) have been described with a more severe phenotype. Small r(X) chromosomes are rare in males and there are only five previous reports of such cases. We report the identification of a small supernumerary X chromosome in an abnormal male fetus. Cytogenetic analysis from chorionic villus sampling was performed because of fetal nuchal translucency thickness and it showed mosaicism 46,XY/47,XY,+r(X)/48,XY,+r(X),+r(X). Fluorescence in situ hybridizations (FISH) showed the marker to be of X‐chromosome origin and not to contain the XIST locus. Additional specific probes showed that the r(X) included a euchromatic region in proximal Xq. At 20 weeks gestation, a second ultrasound examination revealed cerebral abnormalities. After genetic counselling, the pregnancy was terminated. The fetus we describe is the first male with a mosaic XIST‐negative r(X) chromosome identified at prenatal diagnosis. The phenotype we observed was probably the result of functional disomy of the genes in the r(X) chromosome, secondary to loss of the XIST locus. Copyright © 2003 John Wiley & Sons, Ltd.
Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype
Authors: Wieczorek Dagmar , Prott Eva C. , Robinson Wendy P. , Passarge Eberhard , Gillessen‐Kaesbach Gabriele 
Published: February 2003

AbstractWe report on a live‐born male with 46,XY/47,XY+4/47,XY,+6 mosaicism. Trisomy 4 mosaicism was detected by karyotyping chorionic villus samples (CVS) and was confirmed by the analysis of 16 metaphases obtained from cultured amniotic fluid cells. Eight metaphases were normal (46,XY), two had trisomy 4 (47,XY,+4), and two had trisomy 6 (47,XY,+6). Two postnatal chromosomal analyses of blood lymphocytes at birth and at the age of one week were normal. Chromosomal analysis of cultured skin fibroblasts from the right inguinal region at the age of 12 months revealed trisomy 4 (47,XY,+4) in 49 metaphases, trisomy 6 (47,XY,+6) in 2 metaphases, and a normal karyotype (46,XY) in 49 cells of the 100 analyzed metaphases, respectively. The main clinical findings consist of prenatal growth retardation, hypoplasia of the right side of the face, a dysplastic and posteriorly rotated right ear, a high vaulted palate, retrognathia, aplasia of the right thumb, hypoplasia of the fingernails, a deep sacral dimple, and patchy skin hypopigmentation of the right leg. When last seen at the age of 14 months, his development was nearly normal. Five patients with trisomy 4 mosaicism have been reported previously, but none with an additional trisomy 6 mosaicism. Copyright © 2003 John Wiley & Sons, Ltd.
Rapid prenatal diagnosis of Down syndrome using quantitative fluorescence in situ hybridization on interphase nuclei
Authors: Truong Khuong , Gibaud Anne , Dupont Jean‐Michel , Guilly Marie‐Nöelle , Soussaline Françoise , Dutrillaux Bernard , Malfoy Bernard 
Published: February 2003

AbstractObjectivesPresently, conventional cytogenetic analysis of metaphase chromosomes remains the reference approach in prenatal diagnosis. However, this method is labor‐intensive and time‐consuming. The first step toward the rapid identification of aneuploidies is achieved by interphase fluorescence in situ hybridization (FISH) with centromeric or locus‐specific probes. Spot counting using this type of probes is a reliable approach, but is very time‐consuming with some technical and biological limitations. In this study, we present a new FISH method using image cytometry for the detection of trisomy 21 within interphase nuclei.MethodsThe method is based on a comparative quantitation of the fluorescence signals emitted by whole chromosome 21 and 22 painting probes cohybridized on interphase nuclei. The chromosomal imbalance was determined with an automated image cytometer by detecting an abnormal ratio of both fluorescence emissions when compared with the ratio obtained in normal cells.ResultsTen blood samples and twenty amniotic fluids were analyzed. Results from FISH and standard cytogenetics were compared and 100% correlation was achieved.ConclusionsThis method, which enables an easy detection of chromosomal imbalances without a need for metaphase preparations, can be applied to the diagnosis of trisomy 21 and extended to other disorders with chromosomal imbalances. Compared to other interphase FISH techniques, it avoids spot‐scoring difficulties. Copyright © 2003 John Wiley & Sons, Ltd.
First‐trimester diagnosis of Bartsocas–Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature
Authors: Dolan Siobhan M. , Shanske Alan L. , Marion Robert W. , Gross Susan J. 
Published: February 2003

AbstractInitially described in 1972, Bartsocas–Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies. Although described as lethal, review of the literature reveals three individuals who survived into childhood with this condition. We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester. Copyright © 2003 John Wiley & Sons, Ltd.
Fetal cells in cervical mucus in the first trimester of pregnancy
Authors: Cioni Riccardo , Bussani Cecilia , Scarselli Benedetta , Bucciantini Sandra , Barciulli Francesco , Scarselli Gianfranco 
Published: February 2003

AbstractObjectivesThe aim of this study was to first evaluate the presence of fetal cells in cervical mucus samples collected in the first trimester of pregnancy and then to compare different laboratory methods for the detection of these cells.MethodsMucus samples were collected by using a cytobrush before termination of pregnancy (TOP) from 143 pregnant women between 7 and 12 weeks of gestation. None of the women had undergone an invasive diagnostic procedure prior to cervical mucus sampling. Samples of placental tissue were collected from each patient at TOP. Slides from each sample were first observed under an inverted microscope to detect possible sperm contamination.In the first part of our experiments, 40 mucus samples were treated with a mucolytic solution containing N‐acetylcysteine (AC) and were analysed by a polymerase chain reaction (PCR) assay. The second series, consisting of 71 mucus samples, was treated with a mucolytic solution containing dithiothreitol (DTT): all 71 samples were analysed by a PCR‐based assay, and an aliquot for fluorescent in situ hybridisation (FISH) analysis was also obtained from 48 out of 71 samples. In the third part of our experiments, performed on 32 mucus samples, mucus trapped on the cytobrush was directly spread on two slides for FISH analysis without any mucolytic treatment. All placental tissue samples obtained at termination were analysed by FISH for fetal sexing.ResultsOverall, the use of PCR‐based or FISH analyses on 143 mucus samples resulted in correct sex prediction in 92/143 (64.3%) samples [20/66 (30.3%) cases from known male pregnancies and 72/77 (93.5%) cases from known female pregnancies]. In the AC group, Y‐derived sequences were found in 7/23 samples (30.4%) from known male pregnancies and in 1/17 cases from known female pregnancies, with an overall correct sex prediction in 23/40 cases (57.5%). In the DTT group, Y‐derived sequences could be amplified in 10/30 samples (33.3%) from known male pregnancies and in 4/41 cases from known female pregnancies, with an overall correct sex prediction in 47/71 cases (66.2%). In the DTT samples analysed by FISH, nuclei bearing XY signals were detected in 5/26 (19.2%) cases from known male pregnancies and in none from female pregnancies, the rate of correct sex prediction being 56.2% (27/48). On untreated mucus samples analysed by FISH, nuclei with XY signals were documented in 3/13 (23%) samples from male conceptuses and in none from known female pregnancies, with an overall correct sex prediction in 22/32 cases (68.7%).ConclusionFetal cells were not detected in a constant and reliable fashion in cervical mucus samples collected in the first trimester of pregnancy. The detection rate was poorly influenced by the use of different laboratory methods. This sampling technique cannot be regarded as a promising tool towards minimally invasive prenatal diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.
Midtrimester triple‐test levels in women with chronic hypertension and altered renal function
Authors: Shenhav Simon , Gemer Ofer , Sherman Dan J. , Peled Ronit , Segal Shmuel 
Published: February 2003

AbstractObjectiveTo study the association between midtrimester triple‐test levels and renal function in pregnant women with chronic hypertension.MethodsForty‐three patients with chronic hypertension for whom renal function was evaluated by the creatinine clearance test between 14‐ and 20‐weeks gestation were studied. Midtrimester triple‐test values obtained as part of Down screening program were correlated with renal function.ResultshCG correlated inversely with creatinine clearance (r = −0.345; p = 0.002) and directly with alpha‐fetoprotein (r = 0.499; p = 0.003).ConclusionsIn pregnant women with chronic hypertension, impaired renal function may alter midtrimester maternal serum hCG levels. Copyright © 2003 John Wiley & Sons, Ltd.
Protein fragment clustering and canonical local shapes
Authors: Hunter Cornelius G. , Subramaniam Shankar 
Published: February 2003

AbstractA novel clustering method is used to cluster protein fragments by shape. The centroids (mean fragments from each cluster) form a basis set of structural motifs. A database of 156,643 seven‐residue fragments is used, and eight different basis sets with varying levels of resolution are generated. Coarse basis sets contain tens of centroids and provide meaningful local shapes, which are more detailed than the traditional secondary structure categories. High‐resolution basis sets contain thousands of centroids and can be used to model tertiary structure of longer segments. The basis sets generated fit nontraining set proteins with the expected accuracy. Proteins 2003;50:580–588. © 2003 Wiley‐Liss, Inc.
Hydrogenic elliptic orbitals, Coulomb Sturmian sets, and recoupling coefficients among alternative bases
Authors: Aquilanti Vincenzo , Caligiana Andrea , Cavalli Simonetta 
Published: February 2003

AbstractThe nonrelativistic Schrödinger equation for the Coulomb problem is separable in four different coordinate systems in configuration space: Alternative sets of orbitals for the hydrogen‐like atoms correspond to each of them and permit to obtain Sturmian sets, useful as complete orthonormal expansion bases in atomic and molecular calculations. In this article the fundamental properties of the already known hydrogenic orbitals (the familiar polar, the parabolic, and the rarely treated spheroidal sets) are resumed; then, we discuss some properties of the spheroelliptic orbitals, which have been so far practically ignored. We pay particular attention to the symmetries of the different orbital sets and to the relationships between them and order them in a complete scheme that exhibits passages from one to the other through explicitly derived orthogonal transformations. Within this context we insert the study on the conservation of parity in the passage from the polar set to the parabolic one. We also show that—except for the spheroidal set—all alternatives for hydrogenic wave functions induce irreducible representations of the point group D2h, the “quaternion group.” This has relevance for the discussion of connections between these sets and the corresponding ones in momentum space, presented in the following installment of this series. © 2003 Wiley Periodicals, Inc. Int J Quantum Chem, 2003
Phonon forces and cold denaturation
Authors: Bohr Jakob 
Published: February 2003

AbstractProtein unfolds upon temperature reduction as well as upon an increase in temperature. These phenomena are called cold denaturation and hot denaturation, respectively. The contribution from quantum mode forces to denaturation is estimated using a simple phenomenological model describing the molecule as a continuum. The frequencies of the vibrational modes depend on the molecular dimensionality; hence, the zero‐point energies for the folded and the denatured protein are estimated to differ by several electron volts. For a biomolecule such an energy is significant and may contribute to cold denaturing. This is consistent with the empirical observation that cold denaturation is exothermic and hot denaturation endothermic. © 2003 Wiley Periodicals, Inc. Int J Quantum Chem, 2003
Prediction of secondary protein structure with binary coding patterns of amino acid and nucleotide physicochemical properties
Authors: Štambuk Nikola , Konjevoda Paško 
Published: February 2003

AbstractWe present binary coding algorithm for the α‐ and β‐protein fold prediction. The method links amino acid molecular polarity patterns and physicochemical properties of nucleotide bases coded by means of a binary addresses. Primary sequences that define secondary protein structure were analyzed with respect to the symbolic oligopeptides (SO) obtained by the reduction of the 20 amino acid letter alphabet into a binary alphabet of nonpolar group 0 (W, C, I, F, M, V, L, Y) and polar group 1 (Q, R, H, K, N, E, D, S, G, T, A, P). The groups were extracted from the Grantham polarity scale with the clustering around medoids procedure. The transformation of protein strings into binary coding patterns of the polar and nonpolar amino acid groups reduced analyzed elements within the protein motif of length n by the factor of 10n. SMO learning algorithm for the support vector machines was applied to classify α‐helices and β‐strands. It was shown that the relative frequencies of binary hexapeptides classify all 174 nonhomologous α‐ and β‐protein folds from the Jpred database with 100% accuracy. The results of 10‐fold cross‐validation and leave‐one‐out test were 86.78%. Classification tree confirmed the results of SMO analysis and correctly classified 100% of the folds by means of 9 binary hexapeptides. Linear block triple‐check code was proposed for the description of hexapeptide patterns. The presented method enables simple, quick, and accurate prediction of α‐ and β‐protein folding types from the primary amino acid and nucleotide sequences on a personal computer. Our results imply that few amino acid polarity patterns specified by the nucleotide physicochemical properties describe basic protein folding types with >90% accuracy. © 2003 Wiley Periodicals, Inc. Int J Quantum Chem, 2003