bluuebunny/crossref_metadata_2025_split huggingface dataset:
A normal 46,XX infant with a 46,XX/ 69.XXY placenta: A major contribution to the placenta is from a resorbed twin
Authors: Callen D. F. , Fernandez H. , Hull Y. J. , Svigos J. M. , Chambers H. M. , Sutherland G. R. 
Published: March 2007

AbstractA predominantly triploid 69,XXY placenta was found associated with a normal 46,XX infant. Therefore, a triploid placenta is apparently capable of supporting normal fetal development. The chromosome and pathological results support the conclusion that the triploid placenta originates from a ‘vanishing twin’ pregnancy. This case is unusual in that persistence of the placenta from the vanished twin has virtually replaced most of the normal placenta.
Duplication of chromosome 11 centromere in fetal and maternal karyotypes: A new variant?
Authors: Till M. , Rafat A. , Charrin C. , Plauchu H. , Germain D. 
Published: March 2007

AbstractFetal chromosome analysis in a 39‐year‐old mother revealed a chromosome 11 aberration interj ireted as a duplication of the centromere. This was also found in the mother's karyotype, raising the possibility that the abnormality was a new variant of no clinical consequence.
Prenatal diagnosis of duplication cyst of the pylorus
Authors: Goyert Gregory L. , Blitz Donald , Gibson Peter , Seabolt Laurie , Olszewski Mary , Wright Debra J. , Schwartz David B. 
Published: March 2007

AbstractThe first description of the antenatal appearance of a duplication cyst of the pylorus is presented. Prior to the infant's delivery, the possibility that this intra‐abdominal cystic mass represented a choledochal cyst was also strongly considered. The antenatal detection of this cystic mass allowed close neonatal surveillance and timely surgical intervention prior to the onset of serious neonatal complications. The embryogenesis of duplication cysts of the gastrointestinal tract and bronchopulmonary foregut malformations is reviewed. The clinical utility of the prenatal diagnosis of such fetal gastrointestinal anomalies is also discussed.
Follow‐up and pregnancy outcome after a diagnosis of mosaicism in CVS
Authors: Breed A. S. P. M. , Mantingh A. , Vosters R. , Beekhuis J. R. , van Lith J. M. M. , Anders G. J. P. A. 
Published: March 2007

AbstractIn 2103 consecutive diagnostic chorionic villus samples, examined in a 4‐year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long‐term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow‐up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.
Alpha‐fetoprotein in fetal serum, amniotic fluid, and maternal serum
Authors: van Lith J. M. M. , Beekhuis J. R. , van Loon A. J. , Mantingh A. , de Wolf B. T. H. M. , Breed A. S. P. M. 
Published: March 2007

AbstractIn order to gain more insight into the association between alpha‐fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data confirm earlier findings on second‐trimester fetal serum AFP concentration. The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production.
The spontaneous resolution of cystic hygromas and early fetal growth delay in fetuses with trisomy 18
Authors: Hill Lyndon M. , Macpherson Trevor , Rivello Dawn , Peterson Carol 
Published: March 2007

AbstractThe spontaneous resolution of cystic hygromas in fetuses with trisomy 18 may be due to a delay in lymphatic‐vascular anastomosis. The severity of growth delay with trisomy 18 appears to be variable in time of onset and extent.
Prenatal diagnosis in advanced maternal age. Amniocentesis or CVS, a patient's choice or lack of information?
Authors: Brandenburg H. , van der Zwan L. , Jahoda M. G. J. , Stunen Th. , Wladimiroff J. W. 
Published: March 2007

AbstractNinety‐six women of advanced maternal age were interviewed about the way they obtained information on prenatal diagnosis and about how the decision was made as to what procedure was to be performed (transabdominal chorionic villus sampling (TA‐CVS) or amnio‐centesis). In the CVS group, women visited their physician or midwife earlier in pregnancy (mean 7.1 weeks) than those in the amniocentesis group (mean 10.7 weeks). The availability of prenatal diagnosis was not mentioned during the first antenatal visit in 55 per cent of women from the amniocentesis group as opposed to 25 per cent from the TA‐CVS group. Approximately 40 per cent of women eligible for prenatal diagnosis did not receive any information from the referring body prior to counselling at our centre. Only 29 per cent of women who underwent amniocentesis had actually chosen this procedure; 71 per cent were too late to undergo TA‐CVS at 12 weeks. It is concluded that information to the patient must be improved in order to ensure early referral for prenatal diagnosis.
Trophoblast‐like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification
Authors: Bruch J. F. , Metezeau P. , Garcia‐Fonknechten N. , Richard Y. , Tricottet V. , Hsi B.‐L. , Kitzis A. , Julien C. , Papiernik E. 
Published: March 2007

AbstractThree monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast‐like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y‐specific sequences from mothers carrying male fetuses. At the ultra‐structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter‐villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y‐specific sequences in two out of three samples of sorted TLCs.These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non‐invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.
Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant
Authors: Shulman Lee P. , Elias Sherman , Andersen Richard N. , Phillips Owen P. , Milunsky Aubrey , Holbrook Karen A. , Smith Lynne T. , Fine Jo‐David , Simpson Joe Leigh 
Published: March 2007

AbstractJunctional epidermolysis bullosa, Herlitz variant (junctional EB‐Herlitz) is a lethal autosomal recessive skin disorder currently amenable to prenatal diagnosis only by direct analysis of fetal skin. However, elevated levels of alpha‐fetoprotein, as well as the presence of acetylcholinesterase in amniotic fluid, have been associated with other severe fetal genodermatoses. Fetal skin samplings were performed in ten pregnancies at risk for fetal junctional EB‐Herlitz, with three fetuses affected on the basis of electron microscopic detection of blisters within the lamina lucida and abnormal hemidesmosomes. In neither affected nor unaffected pregnancies were maternal serum or amniotic fluid alpha‐fetoprotein levels elevated. Moreover, alphafetoprotein levels in both maternal serum and amniotic fluid were not statistically different comparing affected and unaffected fetuses. Acetylcholinesterase was not present in the amniotic fluid samples of the three affected pregnancies. Unlike other severe fetal genodermatoses, neither alpha‐fetoprotein nor acetylcholinesterase was predictive of junctional EB‐Herlitz.
Prenatal diagnosis of 21‐hydroxylase deficiency by rflp analysis of the 21‐hydroxylase, complement C4, and HLA class II genes
Authors: Keller E. , Andreas A. , Scholz S. , Dörr H. C. , Knorr D. , Albert E. D. 
Published: March 2007

AbstractIn 19 pregnancies at risk for 21‐hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.
Routine cytogenetic prenatal diagnosis using dynamic banding (RBG‐GBG): A highly reproducible method for amniocytes, fetal cord blood, and chorionic villus investigations
Authors: Savary J. B. , Vasseur F. , Lai J. L. , Daudignon A. , Deminatti M. 
Published: March 2007

AbstractDynamic banding (RBG‐GBG) using pulse 5‐bromodeoxyuridine (5‐BrdU) incorporation during part of the last S‐phase before harvesting has been used in prenatal investigations. This method has already been routinely applied in 1344 cytogenetic investigations. GBG and RBG bandings produced almost identical patterns to classical G‐ and R‐banding methods except for heterochromatic portions and some euchromatic segments. Nevertheless, these discordances may be somewhat helpful for cytogenetic diagnosis (i.e., X numerical abnormalities). The results showed particularly good contrast and staining; 5‐BrdU incorporation did not prevent additional staining. Likewise, previous RBG or GBG disclosure allowed further chromosomal identification with C‐banding or nucleolar organizer staining. Simplicity and reproducibility were very helpful in cases with a low mitotic index. 5‐BrdU had no significant effect on in‐vitro damage because only 0.31 per cent of cells were affected; so, we believe that dynamic banding should be used more extensively in cytogenetic investigations. Moreover, the staining and contrast qualities were very suitable for automatic methods of analysis now in use: i.e., metaphase finding and computer‐assisted karyogram creation.
Women's opinions on the offer and use of prenatal diagnosis
Authors: Tymstra Tj. , Bajema C. , Beekhuis J. R. , Mantingh A. 
Published: March 2007

AbstractWe have studied the opinions and attitudes of women towards prenatal diagnosis (amnio‐centesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedures, especially if treatable abnormalities can be detected. Younger women and women with a high level of education were less inclined to make use of prenatal diagnosis. If tests were made more widely available, this might lead to a significant increase in the use of prenatal diagnosis.
Comparative audit of booking and mid‐trimester ultrasound scans in the prenatal diagnosis of congenital anomalies
Authors: Constantine G. , McCormack J. 
Published: March 2007

AbstractDuring 1988 and 1989, 3565 women booked under consultants who performed an ultrasound scan at booking, whilst 4984 booked under consultants who performed a formal mid‐trimester scan between 16 and 18 weeks. All significant anomalies diagnosed prenatally and in the neonatal period were recorded, the incidence in each group being 12.9/1000 and 9.83/1000, respectively (NS).The sensitivity of diagnosis before 20 weeks was 45 per cent in the ‘mid‐trimester’ group (kappa 0.62) compared with 30 per cent in the ‘booking’ group (kappa 0.46), overall sensitivity of prenatal diagnosis, however, being similar in both groups (63 vs. 65 per cent, kappa 0.77 vs. 0.79). Cardiac anomalies were the single largest group which were not detected equally prenatally in both groups.This study shows that formal mid‐trimester scanning leads to anomalies being detected significantly earlier in the antenatal period. Although not statistically significant, three lethal anomalies were missed prenatally in the ‘booking’ group which we would have expected to diagnose on a mid‐trimester scan. These figures are discussed in the light of previous reports.
Can gestational dates routinely derived from very early ultrasound be used to interpret maternal serum alpha‐fetoprotein measurements?
Authors: Haddow James E. , Holman Mary S. , Palomaki Glenn E. 
Published: March 2007

AbstractThis study assesses the reliability of estimating gestational age via crown‐rump or gestational sac measurements obtained at 8 weeks' gestation or earlier as part of routine physician office practice. To accomplish this, we studied 88 pregnancies managed at 45 different sites in which both an early first‐trimester ultrasonically‐derived gestational age estimate and a second‐trimester biparietal diameter (BPD) estimate were available. The first‐and second‐trimester determinations were highly correlated, but the first‐trimester determinations were, on average, 0.43 weeks earlier than the second. The first‐trimester estimates were satisfactory for use in interpreting maternal serum alpha‐fetoprotein (MSAFP) screening measurements, but second‐trimester BPD measurements obtained prior to MSAFP screening should be the method of choice for interpreting MSAFP values, due to the increased sensitivity for detecting open spina bifida.
Preconception and preimplantation diagnosis for cystic fibrosis
Authors: Verlinsky Yury , Rechitsky Svetlana , Evsikov Serge , White Melody , Cieslak Jeanine , Lifchez Aaron , Valle Jorge , Moise Jacob , Strom Charles M. 
Published: March 2007

AbstractPreimplantation diagnosis provides couples at high genetic risk the possibility of avoiding genetic disease without the need for prenatal diagnosis and selective abortion of the affected pregnancy. Following extensive background work on the reliability of genetic diagnosis in a single cell, we offered on a research basis preimplantation diagnosis to five couples at risk for offspring with the delta‐F508 mutation (the major mutation causing cystic fibrosis). There was no detrimental effect from polar body removal on either fertilization or preimplantation development. Genetic analysis, undertaken in 22 polar bodies and 15 corresponding blastomeres, identified 21 embryos of which ten were transferred.
Adverse outcome in pregnancy following amniotic fluid isolation of Ureaplasma urealyticum
Authors: Gray David Jeffrey , Robinson Haynes B. , Malone James , Thomson Richard B. 
Published: March 2007

AbstractInfections in pregnancy with Ureaplasma urealyticum have been associated with a wide range of adverse outcomes, such as early abortion, stillbirth, prematurity, and neonatal morbidity and mortality. Causality has been difficult to demonstrate secondary to the high prevalence of asymptomatic lower genital tract (LGT) colonization and culture data from inaccessible or potentially contaminated sites.Between 1985 and 1989, 2461 second‐trimester genetic amniocenteses were evaluated at the cytogenetics section of the Children's Hospital Medical Center of Akron. All were cultured for the genital mycoplasmas: Mycoplasma hominis and Ureaplasma urealyticum. A total of nine patients were positive, all for Ureaplasma urealyticum, with one patient excluded because of subsequent therapeutic abortion. In addition, complete follow‐up data, such as indication for amniocentesis, serum alpha‐fetoprotein levels, gestational age at parturition, and out‐ come of pregnancy, were available on 86 Ureaplasma‐negative (U –) patients during an approximate 2‐year span within the time‐frame of the study. This was in part due to physician response to a questionnaire sent after amniocentesis.Of the eight positive cultures, 100 per cent were associated with an adverse outcome, defined as fetal loss or premature delivery. This was significant compared with the U–group (p<0.001) with a more than eight times greater risk of adverse outcome. Six (75 per cent) resulted in spontaneous miscarriage within 4 weeks of amniocentesis and at less than 21 weeks' gestation. Two (25 per cent) delivered prematurely, with one (12.5 per cent) neonatal death at 24+ weeks. Histological examination of all eight placentae and the seven fetuses revealed a 100 per cent incidence of chorioamnionitis and pneumonia, respectively. In addition, in four of the five cases (80 per cent), cultures were positive for Ureaplasma urealyticum in pure culture from either placenta, fetal lung, or both tissues. The remaining case (20 per cent) was negative for aerobes, anaerobes, and mycoplasmas.The study demonstrates a significant association and supports a causal relationship between isolation of Ureaplasma from mid‐trimester amniotic fluid with fetal wastage and premature birth.
Contribution of a New PCR assay to the prenatal diagnosis of congenital toxoplasmosis
Authors: Cazenave Jean , Forestier Francois , Bessieres Marie Hélène , Broussin Bernard , Begueret Joël 
Published: March 2007

AbstractA polymerase chain reaction (PCR) assay has been developed for the detection of Toxoplasma gondii. The target sequence (88 bp) is part of a rDNA repetitive gene. A signal can be observed with only one parasite. It is directly and rapidly detected by electrophoresis and ethidium bromide staining. We report a prospective study of 80 documented cases of toxoplasmic seroconversions during pregnancy. The PCR assay of the amniotic fluids was compared with the current standard methods for diagnosis of fetal infection. Seventy specimens gave no PCR signal, and were negative according to prenatal tests and postnatal examinations. The presence of T. gondii was detected in ten specimens by PCR analysis. Four were confirmed by isolation of the parasite from the amniotic fluid; four by biological study of the fetal blood. For the remaining two, infection was diagnosed after birth. Together with ultrasonographic and biological data, this technique permits prenatal diagnosis within 1 day.
Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: A possible association with intrauterine growth retardation and elevated maternal serum alpha‐fetoprotein
Authors: Fryburg J. S. , Dimaio M. S. , Mahoney M. J. 
Published: March 2007

AbstractDetection of trisomy 2 and trisomy 16 mosaicism through chorionic villus sampling (CVS) is not an infrequent finding. We describe here two cases, one of non‐mosaic trisomy 2 and the other of high level mosaicism for trisorny 16. Amniocentesis in both cases demonstrated non‐mosaic 46,XY karyotypes. Each pregnancy continued to delivery of liveborn, normal‐appearing boys; both pregnancies were complicated by severe intrauterine growth retardation (IUGR). Postnatal studies of placental biopsies in both cases confirmed the original CVS findings, whereas cord blood karyotypes were normal in both boys. Both children have demonstrated adequate catch‐up growth.
Apparent non‐mosaic trisomy 16 in chorionic villi: Diagnostic dilemma or clinically significant finding?
Authors: Williams John , Wang Boris B. T. , Rubin Cathi H. , Clark Robin D. , Mohandas T. K. 
Published: March 2007

AbstractA case is presented in which apparent non‐mosaic trisomy 16 was found in chorionic villi (direct and culture) obtained from a patient undergoing first‐trimester prenatal diagnosis. The fetal karyotype subsequently was determined to be 46,XX by follow‐up amniocentesis. Serial ultrasonographic examinations revealed placental sonolucencies and intrauterine growth retardation. At 37 weeks, a small‐for‐gestational‐age female was delivered by Caesarean section for fetal distress. Postnatal cytogenetic studies revealed a normal female karyotype in cord blood and mosaic trisomy 16 in plaental tissues. These findings suggest that in cases where aneuploidy is confined to placental tissues, it may have biological significance, as evidenced by the apparent placental dysfunction and poor fetal growth in this case.
Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate
Authors: Park Hae K. , Kay Helen H. , McConkie‐Rosell Allyn , Lanman Joe , Chen Yuan‐Tsong 
Published: March 2007

AbstractUncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8–12 weeks were assayed for alpha‐glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.
Prenatal sonography in trisomy 9
Authors: Benacerraf Beryl R. , Pauker Susan , Quade Bradley J. , Bieber Frederick R. 
Published: March 2007

AbstractTwo cases of trisomy 9 are presented with the description of the prenatal sonographic findings prompting prenatal cytogenetics evaluation. The characteristic sonographic abnormalities included structural heart defects; limb, renal, and facial anomalies; and intrauterine growth retardation. The clinical course and cytogenetic and autopsy findings are described.
The psychosocial sequelae of a second‐trimester termination of pregnancy for fetal abnormality
Authors: Mourik M. C. A. White‐Van , Connor J. M. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractA retrospective study to investigate the psychosocial sequelae of a second‐trimester termination of pregnancy (TOP) for fetal abnormality (FA) is described. After appropriate consent was obtained, 84 women and 68 spouses were visited 2 years after the event and asked to complete an extensive questionnaire. Most couples reported a state of emotional turmoil after the TOP. There were differences in the way couples coped with this confusion of feelings. After 2 years about 20 per cent of the women still complained of regular bouts of crying, sadness, and irritability. Husbands reported increased listlessness, loss of concentration, and irritability for up to 12 months after the TOP. In the same period, there was increased marital disharmony in which 12 per cent of the couples separated for a while and one couple obtained a divorce. These problems could be attributed to a lack of synchrony in the grieving process. Confusing and conflicting feelings led to social isolation and lack of communication. Difficulties in coming to terms with the fetal loss were not found to be linked to the type of fetal abnormality or religious beliefs but were related to parental immaturity, inability to communicate needs, a deep‐rooted lack of self‐esteem before the pregnancy, lack of supporting relationships, and secondary infertility. Suggestions for improved management are given.
Chorionic villus sampling and selective termination of a chromosomally abnormal fetus in a triplet pregnancy
Authors: Appelman Z. , Caspi B. 
Published: March 2007

AbstractTransabdominal chorionic villus sampling (CVS) was performed on a patient with a triplet pregnancy. The karyotypes were as follows: 46,XX; 46,XY; and 46,XY/47,XXY. Selective termination was done on the affected fetus successfully by intrathoracic potassium chloride (KCI) injection. Amniocentesis which was performed at the same time confirmed the CVS results, showing the same mosaic findings. Following the procedure, the pregnancy proceeded uneventfully and two normal newborns were delivered at term.