bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of cytomegalovirus (CMV) infection: A preliminary report
Authors: Hogge W. Allen , Buffone Gregory J. , Hogge Joan S. 
Published: March 2007

AbstractEight patients were referred for prenatal diagnosis for suspected fetal cytomegalovirus infection (CMV): six for documented first‐trimester infection and two for abnormal ultrasound evaluation suggestive of fetal infection. Three methods of diagnosis were employed: (1) amniotic fluid viral cultures and CMV‐specific IgM in fetal serum; (2) amniotic fluid cultures and detection by polymerase chain reaction amplification of CMV‐specific DNA in chorionic villi; and (3) detection of CMV‐specific DNA in villus samples only. Amniotic fluid cultures detected all cases of infection, but CMV‐specific IgM was not a reliable indicator of infection in any case. DNA analysis correlated well with both culture results and clinical outcome.
Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: Prenatal diagnosis in chorionic villi and amniotic fluid
Authors: Soler A. , Carrio A. , Perez‐Vidal M. T. , Borrell A. , Fortuny A. 
Published: March 2007

AbstractThe prenatal diagnosis of an 11q;22q translocation in a triplet pregnancy detected at the time of chorionic villus sampling (CVS) because of advanced maternal age is reported. Karyo‐types obtained from two apparently different CV samples showed the balanced form of translocation, while the one obtained from a third empty sac showed the unbalanced form: 46, XX, −22, + der(22)t(11;22). Second‐trimester amniocentesis confirmed the balanced translocation in one of the two viable fetuses and a normal karyotype in the other. The detected karyotypes derived from two different types of meiotic segregation, alternate and adjacent 1. To our knowledge, this is the first reported case of an unbalanced karyotype not due to a 3:1 meiotic segregation of this specific translocation.
Prenatal diagnosis of Hb H disease due to compound heterozygosity for South‐East Asian deletion and Hb constant spring by polymerase chain reaction
Authors: Ko Tsang‐Ming , Tseng Li‐Hui , Hsieh Fon‐Jou , Lee Tzu‐Yao 
Published: March 2007

AbstractA pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South‐east Asian deletion and Constant Spring mutation. In her third pregnancy, transabdominal chorionic villus sampling was performed at the tenth gestational week to obtain fetal DNA. The polymerase chain reaction was used for detection of both the South‐east Asian deletion and the Constant Spring mutation. Hb H disease was diagnosed in the fetus. After genetic counselling, the couple elected to have the pregnancy terminated.
Prenatal detection of monosomy 21 mosaicism
Authors: Ghidini Alessandro , Fallet Shari , Robinowitz Jane , Lockwood Charles J. , Dische Renate , Willner Judith 
Published: March 2007

AbstractWe report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.
Heteroduplex formation: A potential source of genotyping error from PCR products
Authors: Hatcher Sandra L. S. , Lambert Que Trang , Teplitz Raymond L. , Carlson James R. 
Published: March 2007

AbstractThe formation of heteroduplexes from polymerase chain reaction (PCR) products has recently become a diagnostic tool that is routinely used for the prenatal detection of small deletions or insertions in a number of disease‐causing alleles. We present evidence illustrating that heterozygous PCR products can manifest ‘invisible’ heteroduplexes that can ultimately lead to genotyping errors. Justifications for these ‘invisible’ heteroduplexes and requisite parameters to optimize their detection are presented.
Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases
Authors: Wang Boris B. T. , Rubin Cathi H. , Williams John 
Published: March 2007

AbstractThe incidence of chromosome mosaicism was analysed in 2612 consecutive chorionic villus sampling (CVS) cases. True mosaicism was found in five cases (0·19 per cent). Confined placental mosaicism (CPM) occurred in 51 cases (1·9 per cent). The chromosomes most frequently encountered in CPM were 2, 7, 8, and the sex chromosomes. Three types of CPM as proposed by Kalousek et al. (1992) were observed. Cases with CPM had a statistically significant association with spontaneous abortion (x2 = 3·92, p < 0·05). Based on the data analysed, we conclude that (1) CPM is as likely to occur in cultured chorionic villi as in the direct preparation; (2) as with amniocyte culture, chromosome 2 mosaicism occurs commonly in villus culture; (3) the incidence of false‐positive results can be greatly reduced and concern about maternal cell contamination can be alleviated by using both direct cyto‐trophoblast preparation and cultured chorionic stroma cells in all cases; and (4) follow‐up cytogenetic and obstetrical studies, such as ultrasound and fetal monitoring, should always be considered in cases where CPM is suspected.
Racial differences in maternal serum human chorionic gonadotropin and unconjugated oestriol levels
Authors: Kulch Peggy , Keener Sherry , Matsumoto Myles , Crandall Barbara F. 
Published: March 2007

AbstractWe assayed maternal serum samples from 134 black and 268 white women from 16 to 18 weeks of gestation for intact human chorionic gonadotropin (hCG), and unconjugated oestriol (uE3). Serum from women with high ( ⩾ 2·5 MOMs) or low (risk for Down syndrome ⩾ 1/365) maternal serum alpha‐fetoprotein (MSAFP) levels were excluded. After correcting for maternal weight, we found that median hCG levels were 16 per cent higher in black women but uE3 levels were not significantly different. These results confirm three other studies for hCG and one study for uE3. Corrections are recommended for both maternal serum hCG and AFP before calculating the risk for Down syndrome in black women.
First‐trimester alpha‐fetoprotein screening for Down syndrome
Authors: Fuhrmann W. , Altland K. , Jovanovic V. , Holzgreve W. , Miny P. , Wenger D. , Rauskolb R. 
Published: March 2007

AbstractScreening for Down syndrome and other chromosomal aneuploidies by biochemical parameters in maternal serum is well established for the second trimester. With screening as late as 16 weeks of gestation, the option of chorionic villus sampling (CVS) unfortunately is lost. In our study population, the maternal serum alpha‐fetoprotein (MSAFP) concentration was determined in 2471 women in the first trimester immediately prior to CVS. Although in this sample MSAFP tended to be lower in Down syndrome (DS) pregnancies than in pregnancies with a chromosomally normal fetus, at this early gestational age neither a fixed cut‐off level of 0·5 multiples of the normal median (MOM) nor one of 0·6 MOM was suitable for identifying pregnancies at higher risk for DS. This also applied to trisomy 18, although on average MSAFP in trisomy 18 pregnancies was lower than in normal and DS pregnancies.
Rapid detection of aneuploidy in uncultured chorionic villus cells using fluorescence in situ hybridization
Authors: Rao P. Nagesh , Hayworth Rosa , Cox Kelly , Grass Frank , Pettenati Mark J. 
Published: March 2007

AbstractRapid detection of aneuploidy using chromosome‐specific repetitive DNA probes and the potential diagnostic accuracy of fluorescence in situ hybridization (FISH) on interphase cells of chorionic villus samples (CVS) are presented. Analyses demonstrated the ability to correctly identify aneuploidy using FISH in uncultured CVS. Our preliminary investigation suggests that this technique offers a significant clinical potential to circumvent problems of culture, time, and cost in cytogenetic analysis.
‘Late’ chorionic villus sampling: Cytogenetic aspects
Authors: Dalprà L. , Nocera G. , Tibiletti M. G. , Martinoli E. , Oldrini A. , Agosti S. , Crosignani P. G. 
Published: March 2007

AbstractCytogenetic data about 145 chorionic villus samples obtained between the 13th and 35th week of gestation are reported. ‘Late’ chorionic villus sampling (CVS) was used to resolve different situations: failed amniotic fluid cell cultures (5 cases); confirmation of an abnormal karyo‐type, previously diagnosed as mosaic (14 cases); and ultrasound fetal malformation (23 cases). Most of the samples (103 cases) were analysed for the classical indications and in these cases, the principal aim was to obtain a rapid fetal karyotype. Excluding the cases used to check fetal karyotype, a chromosomal aberration was found in 11 out of 131 biopsies. In four cases of the group in which the fetal karyotype was checked (14 cases), the pathology observed at the first diagnosis was confirmed, while in the remaining ten cases the anomaly was not observed.
A prospective cytogenetic study of third‐trimester placentae in small‐for‐date but otherwise normal newborns
Authors: Kennerknecht Ingo , Krämer Sabine , Grab Dieter , Terinde Rainer , Vogel Walther 
Published: March 2007

AbstractData in the literature suggest that confined placental mosaicism might be associated with intrauterine growth retardation. However, this association may be coincidental and due to bias of ascertainment. We therefore started a prospective study based on the cytogenetic evaluation of placentae derived from growth‐retarded newborns. We further minimized possible bias by excluding those small‐for‐date infants displaying findings which already could explain intrauterine growth retardation (mothers who are smokers, multiple pregnancies, gestosis, dysmorphic infants). In a collection of 71 small‐for‐gestational age newborns, we did not see a single case of true confined placental mosaicism.
Economic assessment of maternal serum screening for Down's syndrome using human chorionic gonadotropin
Authors: Seror V. , Muller F. , Moatti J. P. , Le Gales C. , Boue A. 
Published: March 2007

AbstractThe effectiveness and costs of prenatal screening programmes for Down's syndrome using maternal serum markers will vary significantly depending on the biological cut‐off values chosen in order to select women, at each maternal age, who will be sent for amniocentesis. On the basis of the first French prospective study of human chorionic gonadotropin (hCG) measurement in maternal serum, this paper shows that the screening protocol currently used in France, where hCG cut‐off values are defined in order to offer amniocentesis to women of all ages with a 1 percent fetal risk of Down's syndrome, would detect 64·06 per cent of all cases of trisomy 21 at birth and would be highly profitable for the French social security system. On the basis of a representative sample of 100 000 pregnant women, the total costs of screening would reach $8 302 000 but would generate net potential savings of $32 186 000 in terms of life‐long costs of care for trisomic 21 children which would be ‘avoided’ by termination of pregnancy following a positive diagnosis of Down's syndrome. Economic assessment shows that cost‐benefit analysis would justify lower hCG cut‐off values and a higher detection rate of fetal Down's syndrome (74·45 per cent) than the current French protocol. This paper concludes that it is ethical and value‐laden issues, such as the consequences for women and couples of false positives and false negatives of screening, rather than economic and financial arguments that may set limits to the utilization of screening for Down's syndrome using maternal serum markers like hCG.
Erythroid‐specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood
Authors: Bianchi Diana W. , Zickwolf Gretchen K. , Yih Melissa C. , Flint Alan F. , Geifman Ossie H. , Erikson Marlena S. , Williams John M. 
Published: March 2007

AbstractFetal nucleated erythrocytes (NRBC) in maternal blood are a non‐invasive source of fetal DNA for prenatal genetic screening. We compared the effectiveness of three monoclonal antibodies for the separation of fetal cells from maternal blood by flow sorting. Mononuclear blood cells from 49 healthy pregnant women were incubated with antibody to CD 71, CD 36, and/or glycophorin A (GPA), employed singly or in combination with each other. These monoclonal antibodies recognize surface antigens on haematopoietic precursor cells. Successful isolation of fetal cells was defined as detection of Y chromosomal sequences in maternal blood from women carrying male fetuses, with absence of Y sequences when female fetuses were carried. Thus, gender prediction accuracy was used as a measure of fetal cell separation.Using anti‐CD 71 to isolate fetal cells, gender prediction was 57 per cent correct; with anti‐CD 36, it was 88 per cent correct. Anti‐GPA, an erythrocyte‐specific antigen, used alone or in combination with anti‐CD 71 or 36, improved gender prediction to 100 per cent. We conclude that antibody to GPA improves the retrieval of fetal NRBC from maternal blood, permitting genetic analysis by the polymerase chain reaction.
Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia
Authors: Baranov V. S. , Gorbunova V. N. , Malysheva O. V. , Artemyeva O. V. , Kascheeva T. K. , Evgrafov O. V. , Polyakov A. V. , Lebedev V. M. , Kuznetzova T. V. , Shlykova S. N. , Mikhailov A. V. , Vakharlovsky V. G. 
Published: March 2007

AbstractOf 126 families referred for counselling of Duchenne muscular dystrophy (DMD), DNA analysis has been suggested to 119 families with at least one affected child or with an affected close male relative of the woman at risk of being a DMD carrier. A large proportion (about 80 per cent) of the families were represented by sporadic cases (only one affected individual). By means of multiplex polymerase chain reactions with different sets of oligoprimers providing amplification of 10–11 different exons, altogether 49 dystrophin gene deletions were identified (41 per cent). Eighteen deletions clustered in the 5′ ‘hot spot’ region of DMD cDNA and 36 in the distal half of the central rod domain around exons 43–53. An unusually high frequency (18 per cent) of deletions involving exons 17–19 was discovered. Large deletions extending through both ‘hot spot’ regions and thus occupying over 30–40 exons were recorded in five cases (10 per cent). Seventy‐six of 94 families were found to be informative by RFLP analysis for intragenic or extragenetic DNA probes. Carrier status was ascertained in 20 and rejected in 32 female relatives in 40 DMD families. Eight DMD‐affected fetuses were diagnosed prenatally by direct deletion testing or by RFLP analysis. Feasible interpopulation variations in the dystrophin gene deletion pattern are discussed. The prospects for more effective prenatal diagnosis and carrier detection in high‐risk DMD families in Russia are briefly outlined.
Grief and mid‐trimester fetal loss
Authors: Seller Mary , Barnes Chris , Ross Sarah , Barby Teresa , Cowmeadow Pauline 
Published: March 2007

AbstractFetal loss through miscarriage or termination of pregnancy for genetic reasons often provokes the grief of bereavement. This is not fully understood, and the extent of the distress is often underestimated by professionals and family alike. We have examined elements of the normal bereavement process and have found that they may occur in specific and accentuated forms in mid‐trimester fetal loss. We discuss our findings in the light of the attachment theory—a psychodynamic model for understanding grief reactions.
Rapid karyotyping in ectopic pregnancies
Authors: Cohen Daniel , Bragos Irma , Berta Cesar , Fodor Mónica , Alonso Eduardo , Nasio César , Kreiman Liliana , Pineda Rafael 
Published: March 2007

AbstractThe aim of this study was to determine the feasibility of karyotyping ectopic Fallopian tube pregnancies utilizing dividing cytotrophoblast cells. Villi from 78 ectopic conceptuses were processed by the direct chromosome technique and cytogenetic diagnosis was successful in 60 cases (76‐9 per cent). The amount of villi obtained, as well as villus morphology, was correlated with cytogenetic success rate. Histological examination of the Fallopian tube was also carried out. A total of 47 cases were chromosomally abnormal (78‐3 per cent), which is the highest frequency of cytogenetic abnormalities reported to date.
Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization
Authors: Yu Loh‐Chung , Williams John , Wang Boris B. T. , Vooljs Marc , Weier Heinz‐Ulrich G. , Sakamoto Masaru , Ying Kuang‐Lin 
Published: March 2007

AbstractA case is presented in which chorionic villus direct preparation and cultured chorionic villus cells revealed a 47,XX, + mar karyotype. The marker was a small metacentric chromosome and appeared to be i(18p)—isochromosome 18p. Follow‐up studies in both amniotic fluid and fetal fibroblasts confirmed the karyotype. In order to characterize the marker, a panel of biotinylated DNA probes was used, including a whole chromosome 18 probe, chromosome 18‐specific alpha satellite DNA, Yac clones, and a pan‐telomeric probe. These studies show that the marker is a monocentric i(18p) in which about 80 per cent of chromosome 18 alpha satellite DNA has been lost.
A large retinoblastoma detected in a fetus at 21 weeks of gestation
Authors: Maat‐Kievit J. A. , Oepkes D. , Hartwig N. G. , Vermeij‐Keers C. , Van Kamp I. L. , Van De Kamp J. J. P. 
Published: March 2007

AbstractThe facial tumour described here is the first reported case of a large retinoblastoma detected early in pregnancy and adds another item to the differential diagnosis of facial tumours visualized by prenatal ultrasound examination. Ultrasound examination of the fetal eyes can be offered in cases of retinoblastomas where prenatal DNA diagnosis is otherwise impossible.
Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation
Authors: Cordone Massimo , Lituania Mario , Bocchino Giancarlo , Passamonti Ubaldo , Tomà Paolo , Camera Gianni 
Published: March 2007

AbstractPrenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First‐level fetal ultrasonography demonstrated short long bones of the lower limbs. Second‐level examination showed a large head; shortened femur, fibula, and tibia; a ‘trident’‐shaped hand; and an abnormal facial profile.
Prenatal diagnosis of exencephaly
Authors: Casellas M. , Ferrer M. , Rovira M. , Pla F. , Martinez M. A. , Cabero L. 
Published: March 2007

AbstractThis paper presents a sonographic diagnosis of exencephaly made during the last trimester of gestation. The sonogram showed the absence of bones in the cranial vault together with the presence of a disorganized cerebral mass, with loss of its normal anatomy. Post‐partum examination of the newborn confirmed the findings of the sonogram. We briefly review the characteristics of exencephaly, its aetiology, and its relationship to anencephaly.
Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers
Authors: Serville Françoise , Benit Paule , Saugier Pascale , Vibert Mireille , Royer Ghislaine , Pelet Anna , Chery Michèle , Munnich Arnold , Lyonnet Stanislas 
Published: March 2007

AbstractX‐linked hydrocephalus‐stenosis of the aqueduct of Sylvius sequence (H‐SAS, MIM number 307 000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son. Therefore, mapping the H‐SAS locus to distal Xq (Xq28) was of primary importance for genetic counselling and prenatal diagnosis. Here, we report prenatal exclusion of H‐SAS with a probability of 97.6 per cent in two male fetuses with a 50 per cent a priori risk of being affected using closely linked Xq28 DNA markers.
Prenatal diagnosis of ornithine transcarbamylase deficiency: Results in SPFASH mice
Authors: Monastiri K. , Rabier D. , Kamoun P. 
Published: March 2007

AbstractOrnithine transcarbamylase (OTC) deficiency is a human X‐chromosome‐linked disease (McKusick 31125). The presence of OTC activity in the human placenta encouraged us to examine the possible diagnosis of the disease in an animal model (Spfash mice) by enzymatic assay on placental samples. A significant positive correlation (P< 0·02) was found between placental and hepatic activities; the pH dependence of OTC was similar in the placenta and liver when compared within normal or homozygous mutant mice. The apparent Km (ornithine) and Km (carbamoylphosphate) values of the enzyme did not show any significant differences when compared in both placentae and livers of normal fetuses. The use of OTC assay in the placenta for prenatal diagnosis of OTC deficiency in mouse fetuses obtained by the crossbreeding of Spfash/+ with +/Y has shown that our method has good diagnostic value. We made the diagnosis of OTC deficiency in male fetuses with a sensitivity and a specificity of 1·0. The + gene from the father in Spfash/ + animals is preferentially inactivated in extraembryonic tissues, explaining why very low placental OTC activity was observed in 12 of the 18 female fetuses studied. Because these 12 females have variable OTC activity in their livers, it is not possible to appreciate the true residual activity in their livers by measuring this activity in the placenta.
Short femur length associated with severe intrauterine growth retardation
Authors: Bromley Bryann , Brown Douglas L. , Benacerraf Beryl R. 
Published: March 2007

AbstractFour fetuses with a femur measuring greater than two standard deviations below the mean compared with the biparietal diameter are presented. These four fetuses were subsequently determined to have severe intrauterine growth retardation and no evidence of skeletal dysplasias.
Evaluation of prenatal diagnosis of congenital heart disease
Authors: Stoll C. , Alembik Y. , Dott B. , Roth P. M. , De Geeter B. 
Published: March 2007

AbstractPrenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high‐risk groups. Thanks to our registry of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 131 760 consecutive pregnancies of known outcome from 1979 to 1988. Only 84 out of 912 malformed fetuses with CHDs without chromosomal anomalies were detected (9.2 per cent). The sensitivity of detection varied from around 38 per cent for malformations such as hypoplastic left heart and single ventricle to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased dramatically since 1987 by including routine examination of the four‐chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite clear four‐chamber view, to perform scans at ⩾ 18 weeks of gestation, and to train sonographers in order to improve the prenatal detection of CHDs.