bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of enteric duplication cyst of the tongue
Authors: Rousseau Thierry , Couvreur Stéphanie , Senet‐Lacombe Eve , Durand Christine , Justrabo Eve , Malka Gabriel , Sagot Paul 
Published: February 2004

AbstractCysts located on the tongue are rare and usually diagnosed in childhood. Here we report on the prenatal diagnosis of an unusual cystic malformation of the tongue with heterotopic intestinal tissue explored by prenatal ultrasound, magnetic resonance imaging and on its surgical treatment and histological examination. The prenatal differential diagnoses as well as perinatal management of cystic lesions of the tongue are reviewed. Copyright © 2004 John Wiley & Sons, Ltd.
Maternal education modifies the age‐related increase in the birth prevalence of Down syndrome
Authors: Khoshnood Babak , Wall Stephen , Pryde Peter , Lee Kwang‐sun 
Published: February 2004

AbstractObjectiveTo test the hypothesis that the age‐related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis.MethodsWe compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use, in women with <12 years of education with those who had ≥12 years of education. We used a national data set and analyzed the effects of education separately for African Americans (N = 1 643 054), and non‐Hispanic whites (N = 6 676 885) in the US birth cohorts of 1989–1991. Analyses included Mantel–Haenszel and logistic regression models with the likelihood ratio test to assess interactions between education and age effects.ResultsFor both African Americans and non‐Hispanic whites, the age‐related increase in the odds of Down syndrome was substantially less for women with higher levels of education (p < 0.001). For both ethnic groups, women with higher levels of education were more likely to use amniocentesis (p < 0.001).ConclusionsOur results suggest that women with higher levels of education are more likely to use prenatal diagnosis. Moreover, this effect of education on prenatal diagnosis use, translates into a lower rate of age‐related increase in the birth prevalence of Down syndrome. Copyright © 2004 John Wiley & Sons, Ltd.
Fetal DNA in maternal plasma as a screening variable for preeclampsia. A preliminary nonparametric analysis of detection rate in low‐risk nonsymptomatic patients
Authors: Farina Antonio , Sekizawa Akihiko , Sugito Yumi , Iwasaki Mariko , Jimbo Masatoshi , Saito Hiroshi , Okai Takashi 
Published: February 2004

AbstractObjectiveOur objective was to examine whether plasma fetal DNA can be used as a screening variable in those women who developed preeclampsia but without any clinical symptom at the time of blood draw.MethodsFetal DNA was extracted from 1.5‐mL plasma samples, and the DYS14 gene was analyzed by real‐time quantitative polymerase chain reaction. Plasma collected and frozen from six women were each paired with five matched control samples of identical specimen type from gravid women carrying a presumed normal male fetus. Matched rank‐sum analysis and nonparametric receiver operating characteristic (ROC) curves analysis of estimated multiples of median (MoM) were used for calculating detection rate (DR) and false‐positive rate (FPR).ResultsThe mean observed rank of 5.08 in the cases was significantly higher than the expected 3.18 (p‐value = 0.013). Pregnancies that will develop a preeclampsia exhibit 2.39‐fold higher levels of maternal plasma cell‐free fetal DNA compared to matched controls. DR was 33 and 50% at an FPR of 5 and 10% respectively.ConclusionsThe estimated DR allows to consider fetal DNA as a potential variable to predict preeclampsia in a low‐risk population. Further studies will be addressed to calculate a parametric statistical algorithm and to estimate a proper posterior risk of the disease by means of fetal DNA alone or combined with other markers. Copyright © 2004 John Wiley & Sons, Ltd.
Pilot study on the midsecond trimester examination of fetal nasal bone in the Chinese population
Authors: Chen Min , Lee Chin Peng , Leung Kwok Yin , Hui Pui Wah , Tang Mary Hoi Yin 
Published: February 2004

AbstractObjectivesHypoplasia of the nasal bone of fetuses affected by trisomy 21 and other aneuploidies could be detected by prenatal ultrasound examination and was an important new marker in the detection of Down syndrome in the second trimester. Racial differences in fetal nasal bone length have been reported. However, there was no reference range for the fetal nasal bone length (NBL) in the Chinese population. We conducted a pilot study to investigate the reproducibility of the measurement of fetal NBL in the mid second trimester and to determine whether there is any difference in NBL between the Chinese and the Caucasian population.MethodsFrom June 2002 to February 2003, 198 Chinese women were examined. Ultrasound measurements of NBL were performed on a strictly midsagittal plane in normal singleton fetuses at 15 to 23 weeks' gestation.ResultsThe mean difference in the NBL between the two investigators was small (mean = 0.043 mm; 95% CI, −0.033 to 0.12), and there was substantial agreement between the measurements for each observer. Limits of agreement were −0.48 to 0.35 and −0.29 to 0.22 mm in the two investigators respectively. It was found that the median length of the nasal bones increased from 3.5 mm at 15 weeks to 6.7 mm at 23 weeks' gestation. There was a linear relationship between the length of the nasal bone and the gestational age.ConclusionIt was demonstrated that the measurement of nasal bone length was feasible and reproducible in the second trimester. The fetal nasal bone length in Chinese population appeared shorter than that of Caucasian and African–Americans. There is a need to establish a reference range of fetal NBL for the Chinese population. Copyright © 2004 John Wiley & Sons, Ltd.
Structural chromosomal mosaicism and prenatal diagnosis
Authors: Pipiras E. , Dupont C. , Chantot‐Bastaraud S. , Siffroi J. P. , Bucourt M. , Batallan A. , Largillière C. , Uzan M. , Wolf J. P. , Benzacken B. 
Published: February 2004

AbstractTrue structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low‐set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd.
Ultrasound screening of fetal structural abnormalities at 12 to 14 weeks in Hong Kong
Authors: Chen Min , Lam Yung Hang , Lee Chin Peng , Tang Mary Hoi Yin 
Published: February 2004

AbstractObjectiveUltrasound screening for fetal abnormalities is conventionally performed at 18 to 20 weeks of gestation. Recent data suggested that many fetal structural abnormalities could be detected by ultrasound examination at 12 to 14 weeks of pregnancy. In this study, we investigated the effectiveness of early ultrasound examination in the detection of fetal abnormalities in women aged 35 years or older.MethodsFrom February 1998 to March 2001, pregnant women aged 35 or above were examined by transabdominal and transvaginal sonography between 12 and 14 weeks of gestation. If the anatomical survey was normal, the women underwent routine 16‐ to 20‐week ultrasound examination. Pregnancy outcome was obtained from the hospital records or by contacting the subjects.ResultsTwenty‐six of the 1609 fetuses had structural abnormalities. Fourteen were detected at the ultrasound examination at 12 to 14 weeks. Detection rate was 53.8% (14/26; 95% CI 44, 64) with a false‐positive rate of 0.3% (5/1583; 95% CI 0.16, 0.44). Six additional abnormalities (23.1%, 6/26) were detected at 16‐ to 20‐week ultrasound examination. The overall detection rate of structural abnormalities was 76.9% (20/26; 95% CI 68.6, 85.2).ConclusionsThe effectiveness of ultrasound examination at 12 to 14 weeks to screen for fetal abnormalities approached that achieved at 20 weeks and can be a good adjunct to the conventional examination. Copyright © 2004 John Wiley & Sons, Ltd.
Reversal of twin–twin transfusion syndrome: frequency, vascular anatomy, associated anomalies and outcome
Authors: Wee Ling Y. , Taylor Myles J. O. , Vanderheyden Tina , Wimalasundera Ruwan , Gardiner Helena M. , Fisk Nicholas M. 
Published: February 2004

AbstractObjectiveTo determine the frequency of reversal of transfusional gradient and phenotype in a large cohort of prospectively studied cases of twin–twin transfusion syndrome (TTTS) and seek evidence of clinical or placental anastomotic associations.MethodsConsecutive cases of TTTS seen over an eight‐year period with serial documentation of ultrasonic growth, liquor volume and fetal and placental Doppler studies were reviewed. Postnatal injection studies were inspected.ResultsReversal of TTTS occurred in 5 of 96 affected pregnancies (5%). Two of the five cases had underlying aneuploidy or genetic syndrome, higher than the 2% frequency found in cases without reversal of TTTS (p < 0.05). Placental anastomotic configurations provided no consistent explanation for reversal of phenotype.ConclusionThis study documents the frequency of reversal of the direction of TTTS, and suggests that it is a heterogeneous condition. Reversal of donor–recipient phenotype may be explained by haemodynamic changes secondary to underlying aneuploidy/genetic syndromes, to the presence of multiple anastomoses in either direction or following laser ablation. This series together with previous case reports argues for a high level of suspicion for underlying aneuploidy, genetic syndrome or structural defects where there is reversal of the donor–recipient phenotype. Copyright © 2004 John Wiley & Sons, Ltd.
Prenatal diagnosis of the distal 11q deletion and review of the literature
Authors: Chen Chih‐Ping , Chern Schu‐Rern , Chang Tung‐Yao , Tzen Chin‐Yuan , Lee Chen‐Chi , Chen Wen‐Lin , Chen Li‐Feng , Wang Wayseen 
Published: February 2004

AbstractObjectivesTo present the prenatal diagnosis of de novo distal 11q deletions and a review of the literature.Clinical Subjects and MethodsA 31‐year‐old primigravid woman underwent amniocentesis at 20 weeks' gestation because of a maternal serum alpha‐fetoprotein (MSAFP) level of 2.63 multiples of the median. Amniocentesis demonstrated a karyotype of 46,XY,del(11)(q24.2). The parental karyotypes were normal. Level II ultrasound revealed short femurs and humeri, and overlapping of the toes. Postnatally, the proband manifested additional findings of the characteristic facial dysmorphism and camptodactyly. A 38‐year‐old gravida 2, para 1, woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(11)(q24.1). The parental karyotypes were normal. Level II ultrasound did not show fetal structural abnormalities. Postnatally, the proband manifested characteristic facial dysmorphism and camptodactyly.ResultsOf these two cases, genetic marker analysis determined the paternally derived distal deletions of chromosome 11q and the deletion breakpoints. A comparison of the present cases with the reported cases of prenatally diagnosed distal 11q deletion is made.ConclusionThe distal 11q deletion can be identified prenatally because of parental balanced translocations involving chromosome 11, previous‐term infants with an unbalanced rearrangement, advanced parental age, sonographically detected fetal abnormalities and abnormal maternal serum screening. Fetuses with de novo distal 11q deletions may be associated with elevated MSAFP and abnormal sonographic findings of the digits and limbs in the second trimester. Copyright © 2004 John Wiley & Sons, Ltd.
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome
Authors: Muschke Petra , Gola Hannswerner , Varon Raymonda , Röpke Albrecht , Zumkeller Walter , Wieacker Peter , Stumm Markus 
Published: February 2004

AbstractObjectiveWe report on the retrospective diagnosis of Nijmegen breakage syndrome (NBS) confirmed by molecular genetic analysis and consecutive prenatal diagnosis in the same family.MethodThirteen years after the death of their daughter due to fatal recurrent infections, a couple presented in our genetic counselling unit asking for the recurrence risk of their daughter's disease. Retrospective analysis of the medical record suggested that the girl might have suffered from NBS. Therefore, molecular genetic analysis for NBS was performed in the parents.ResultsAfter the diagnosis, NBS could be indirectly proven by molecular genetic heterozygosity testing of the parents, and a reliable prenatal diagnosis for a new pregnancy could be offered. In a following pregnancy, a massive hydrocephalus was diagnosed by ultrasound investigation. Amniocentesis was performed, and molecular analysis of the fetal DNA revealed homozygosity for the NBS1 mutation 657del5.ConclusionThe analysis of this family allows a further delineation of the prenatal NBS phenotype including hydrocephalus and dystopic kidneys that are helpful parameters to recognise NBS prenatally, also by ultrasound investigations in pregnancy. Additionally, we conclude that hydrocephalus might be more common in NBS patients than previously suggested. Copyright © 2004 John Wiley & Sons, Ltd.
Integrated first‐ and second‐trimester Down syndrome screening test among unaffected IVF pregnancies
Authors: Maymon Ron , Shulman Adrian 
Published: February 2004

AbstractObjectiveThe aim of the current study was to assess the profile of markers that constitute the integrated test and to measure its false‐positive rates (FPR) among a preselected group of unaffected IVF pregnancies. These results were compared with the reference laboratory values that reflect the general obstetric population, which underwent the same investigative protocol.MethodsNinety‐nine unaffected singletons from IVF‐pregnant women and 1781 controls, all evaluated by the same laboratory, underwent a nondisclosure integrated Down syndrome screening test. This test comprised first‐trimester nuchal translucency (NT) and pregnancy‐associated plasma protein‐A (PAPP‐A) assessment, followed by a midgestation quadruple test. Only upon completion of the integrated screening test, the parturient women were informed of its results.ResultsThe mean maternal age of the study and the control group was 32.2 ± 4 and 30.4 ± 4 years respectively (t‐test <0.005). The marker levels were expressed as multiples of the gestation‐specific normal medians. The IVF group had lower PAPP‐A (0.78 vs 1.03, t‐test P < 0.05) and higher NT (1.14 vs 1.01, t‐test P < 0.05) values, respectively. All the other markers were similar for both groups. On the basis of the integrated test, a higher rate of IVF pregnancies were defined as being screen‐positive (6.1% vs 3.7%), although the values did not reach a level of statistical significance.ConclusionsSince NT alone yielded the same FPR as the integrated test, the option of various sonographic screening combinations in this group warrants further investigation. Copyright © 2004 John Wiley & Sons, Ltd.
Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy
Authors: Chen Ming , Yeh Guang‐Perng , Shih Jin‐Chung , Wang Bao‐Tyan 
Published: February 2004

AbstractWe report a patient whose chorionic villus sampling showed a nonmosaic trisomy 13 [46,XX,der(13;13)(q10;q10)]. Subsequent amniocentesis and cordocentesis showed varying percentages of abnormal cells (77 and 78% in two amniocentesis; 14% in cordocentesis) and mosaic trisomy 13 was impressed. Prenatal fetal ultrasound scanning revealed only mild structural abnormalities (echogenic cardiac foci, transient lemon head, transient skin oedema). The mother chose to continue the pregnancy. Karyotyping of the cord blood, peripheral blood, umbilical cord, urine, and chorion were performed postpartum. The process of correction appeared to exist in the placenta (indirect evidence from coexistence of trisomy 13 [46,XX,der(13;13)(q10,q10)], euploidy [46,XX], aneuploidy [46,XX,–13, +mar], and monosomy 13 [45,XX,–13] in the chorion at birth). The baby had survived beyond eight months of age at the time of submission. Few structural abnormalities except low‐set ears, absence of the 12th rib, and cardiomegaly with ventricular septal defect, were noted postnatally. The growth reached 95th percentile at the age of one month. Development milestones were not delayed at serial evaluations. Her ventricular septal defect was corrected surgically at the age of six months. Karyotypes of her skin fibroblasts, blood lymphocytes, and cardiac tissue were all normal [46,XX] at the time of surgery. Difficulties of the genetic counseling are also discussed. Copyright © 2004 John Wiley & Sons, Ltd.
ROC analysis of an erythroblast morphologic scoring system to improve identification of fetal cells in maternal blood
Authors: Cha Dong‐Hyun , Farina Antonio , Bianchi Diana W. , Johnson Kirby L. 
Published: February 2004

AbstractObjectivesNucleated red blood cells are used in research settings as a target cell type for investigations of noninvasive prenatal diagnosis, and these cells have a characteristic nuclear morphology and hemoglobin staining pattern that makes them distinguishable from maternal cells. Recently, we developed an erythroblast scoring system based on these characteristics. Here, we employ statistical analyses to further characterize the utility of this scoring system.MethodsA total of 170 nucleated red blood cells isolated from peripheral blood of four women undergoing elective termination of a trisomy 21 male fetus were analyzed. Each of the four scoring system parameters, whose values range from 0 to 3 points, served as an independent variable to determine its significance for the correct identification of a cell as fetal or maternal. A logistic regression was used as a multivariable statistical tool.ResultsForty‐four patterns of the four parameters were found in the overall series. Some patterns were exclusively associated with maternal cells (e.g. 1‐1‐1‐1 and 1‐1‐2‐2), and others were exclusively associated with fetal cells (e.g. 3‐2‐2‐2 and 3‐2‐3‐2). A detection rate of 73.9% at a false‐positive rate of 5% resulted from a random simulation model performed with a 1:5 case:control matched set. The variables most predictive of a cell being fetal were gamma hemoglobin staining intensity of cytoplasm and nuclear roundness.ConclusionsThe modified scoring system presented here improves upon the previously reported, unmodified erythroblast scoring system. These statistical analyses suggest that the scoring system is a promising method that aids in distinguishing fetal and maternal NRBCs for prenatal diagnostic applications and that it may be amenable to automated microscopy by applying the discrete morphological parameters as computational classifiers. Copyright © 2004 John Wiley & Sons, Ltd.
Prenatal diagnosis of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular studies with multiplex STR analysis
Authors: Hwa Hsiao‐Lin , Ko Tsang‐Ming , Chang Yih‐Yuan , Huang Chien‐Hao , Su Yi‐Ning , Tseng Li‐Hui , Hsieh Fon‐Jou 
Published: February 2004

AbstractObjectivesTo present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis.Case and MethodsA 35‐year‐old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization revealed the existence of a Y centromere on the marker chromosome. Analysis with six pairs of short tandem repeat markers showed that the genomic DNA extracted from the uncultured amniotic fluid cells contained a deletion of Yq11.1‐Yq11.2. Spermatogenesis loci of the Y chromosome were studied using four sets of multiplex PCR. The proximal two markers DYS271 and KALY were present and the other 16 distal markers were deleted. No deletion was noted in the Y chromosome of the father.ResultsCytogenetic and molecular analyses revealed deletions of AZFb, d, and c regions on Yq11.2‐Yqter in the fetal Y chromosome. Postmortem examination of the fetus showed a grossly normal male fetus with normal external genitalia and testes.ConclusionThe present report demonstrates that molecular analysis using polymorphic microsatellite markers and multiplex PCR is a useful complement to cytogenetic methods for the identification and the characterization of Y‐chromosomal deletions. Copyright © 2004 John Wiley & Sons, Ltd.
Rheological and physical properties of aliphatic hyperbranched polyesters
Authors: Luciani André , Plummer Christopher J. G. , Nguyen Tuan , Garamszegi László , Månson Jan‐Anders E. 
Published: February 2004

AbstractThe effects of the size (pseudo‐generation number) and nature of end groups on physical and rheological properties were investigated for a series of hyperbranched polyesters based on an ethoxylated pentaerythritol core and 2,2‐bis‐(hydroxymethyl)propionic acid repeat units. The observed linear dependence of the melt viscosity on the molar mass in the high pseudo‐generation‐number limit indicated that entanglement effects were substantially absent. Moreover, the marked influence of end capping of the end groups on the physical and rheological properties suggested that intermolecular interactions were dominated by contacts between the outer shells of the molecules, in which the end groups were assumed to be concentrated. © 2004 Wiley Periodicals, Inc. J Polym Sci Part B: Polym Phys 42: 1218–1225, 2004
Crystallization behavior of dynamically cured polypropylene/epoxy blends
Authors: Jiang Xueliang , Zhang Yong , Zhang Yinxi 
Published: February 2004

AbstractDynamically cured polypropylene (PP)/epoxy blends compatibilized with maleic anhydride grafted PP were prepared by the curing of an epoxy resin during melt mixing with molten PP. The morphology and crystallization behavior of dynamically cured PP/epoxy blends were studied with scanning electron microscopy, differential scanning calorimetry, and polarized optical microscopy. Dynamically cured PP/epoxy blends, with the structure of epoxy particles finely dispersed in the PP matrix, were obtained, and the average diameter of the particles slightly increased with increasing epoxy resin content. In a study of the nonisothermal crystallization of PP and PP/epoxy blends, crystallization parameter analysis showed that epoxy particles could act as effective nucleating agents, accelerating the crystallization of the PP component in the PP/epoxy blends. The isothermal crystallization kinetics of PP and dynamically cured PP/epoxy blends were described by the Avrami equation. The results showed that the Avrami exponent of PP in the blends was higher than that of PP, and the crystallization rate was faster than that of PP. However, the crystallization rate decreased when the epoxy resin content was greater than 20 wt %. The crystallization thermodynamics of PP and dynamically cured PP/epoxy blends were studied according to the Hoffman theory. The chain folding energy for PP crystallization in dynamically cured PP/epoxy blends decreased with increasing epoxy resin content, and the minimum of the chain folding energy was observed at a 20 wt % epoxy resin content. The size of the PP spherulites in the blends was obviously smaller than that of PP. © 2004 Wiley Periodicals, Inc. J Polym Sci Part B: Polym Phys 42: 1181–1191, 2004