bluuebunny/crossref_metadata_2025_split huggingface dataset:
Low‐dose sulprostone for pregnancy termination in cases of fetal abnormality
Authors: Kanhai Humphrey H. H. , Keirse Marc J. N. C. 
Published: March 2007

AbstractThirty‐two pregnancies (11 primi‐ and 21 multi‐gravid) with an abnormal fetus were terminated between 16 and 35 weeks (mean 22 weeks; median 20 weeks) and a continuous intravenous infusion of 1 μg of the prostaglandin analogue sulprostone. All pregnancies were terminated vaginally, 31 of them with this regimen in a median induction‐expulsion interval of 23 h (range 8–52 h). Complete expulsion of the placenta occurred in 72 per cent of cases. Median blood loss was 100 ml (range 20–2000 ml). There were only a few side‐effects. We conclude that this induction regimen is both appropriate and safe for pregnancy termination in cases of fetal anomaly.
Preterm delivery rate and fetal outcome in structurally affected twin pregnancies: A retrospective matched control study
Authors: Heydanus R. , Santema J. G. , Stewart P. A. , Mulder P. G. H. , Wladimiroff J. W. 
Published: March 2007

AbstractData from 23 twin pregnancies with one structurally affected fetus were compared with data from 23 twin pregnancies with proven absence of structural fetal anomalies and matched for maternal age, parity, and year of delivery. The preterm delivery rate ( < 37 weeks) was high in both groups but not significantly different (57 vs. 48 per cent). Perinatal mortality was significantly higher in the structurally affected twin pregnancies (65 vs. 9 per cent). In the affected twins, birth weight of the anomalous fetus was significantly lower than that of the normal co‐twin. Since there was no difference in the incidence of maternal disease (hypertensive disorders, diabetes), it was concluded that the higher perinatal mortality was determined mainly by the nature of the anomaly and not by the preterm delivery rate.
Complex mosaicism associated with trisomy 9
Authors: Smoleniec J. S. , Davies T. , Lunt P. , Berry P. J. , James D. 
Published: March 2007

AbstractFetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus with a total of three karyotypically different cell lines (46,XXrpar; 47,XX, + 9; and 47,XX, + del (9) (q11) in different tissues (placenta, lung, gonad, and skin).
Evaluation of amniotic fluid cell filtration: An experimental approach to early amniocentesis
Authors: Kennerknecht Ingo , Krämer Sabine , Grab Dieter , Terinde Rainer 
Published: March 2007

AbstractPrior to a prospective application of amniotic fluid (AF) cell filtration to early amniocentesis, we tested the technique on a surplus from mid‐trimester samples. By using the same sample size of 5 ml in experiments with a filter and in routine diagnostic procedures (control), we evaluated an optimal filter system. The prolonged culture time of filtered cells and the reduced number of clones are most probably due to mechanical stress (filtration pressure), whereas loss of the cells by adhesion to the filter system, and an AF‐free culture medium (growth factors) are suggested to be less important. The AF cells are very sensitive to mechanical stress. Slow filtration (⩽3 ml AF/min) through filters with a high porosity and the largest possible pore size should be preferred. A mixed cellulose ester filter membrane with a pore size of 5·0 μm proved to be the most efficient, allowing harvest of the filtered cells after only a slight prolongation of the culture time (+2·4 days) compared with unfiltered aliquots. A filter set with a bypass connected by three‐way taps allows cell filtration during either aspiration or reinjection of the AF. Cell filtration after amniocentesis and consecutive reverse flushing of the membrane with the appropriate amount of culture medium proved to be the best with regard to easy handling and reducing the risk of bacterial contamination.
Second‐trimester unconjugated oestriol levels in maternal serum from chromosomally abnormal pregnancies using an optimized assay
Authors: Crossley J. A. , Aitken D. A. , Connor J. M. 
Published: March 2007

AbstractSecond‐trimester unconjugated oestriol (UE3) levels were measured retrospectively in maternal serum from 78 chromosomally abnormal pregnancies and 390 matched controls using a radioimmunoassay kit (Amersham AMERLEX‐M) optimized for use in the second trimester. Reduced levels of UE3 were found in a group of 49 Down's syndrome pregnancies with a median UE3 level of 0·79 multiples of the median (MOM) of the controls. Four trisomy 18 pregnancies had UE3 levels less than 0·7 MOM. There was a highly significant level of correlation between alpha‐fetoprotein (AFP) and UE3 levels in the controls (r = 0·25, P <0·01), the Down's syndrome pregnancies (r = 0·44, p 0·01), and the other chromosome abnormalities (r = 0·61, p0·01). When used as an additional marker to AFP and human chorionic gonadotrophin in screening for Down's syndrome, UE3 does not appear to add to the sensitivity of such screening.
Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid‐triploid discrepancy after CVS
Authors: Tuerlings J. H. A. M. , Breed A. S. P. M. , Vosters R. , Anders G. J. P. A. 
Published: March 2007

AbstractA 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two‐cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.
Cytogenetic analysis of human oocytes after subzonal insemination
Authors: Selva Jacqueline , Wolf Jean Philippe , Rince Patricia , Rodrigues Daniel , Frydman René , Jouannet Pierre 
Published: March 2007

AbstractSubzonal insemination has been proposed to achieve fertilization in cases where standard in vitro fertilization has failed. We present the results of chromosome analysis of oocytes after subzonal insemination. Our data suggest that the main cause (76 per cent) of the absence of cleavage after subzonal insemination is the total absence of sperm nucleus evolution of the injected spermatozoa. Our results also suggest that spermatozoa chromatin development is normal after subzonal insemination. Aneuploidy does not seem to be increased in zygotes after subzonal insemination. However, polyploidy was often more important than predicted by the observation of pronuclei (PN). Pronucleus development might be asynchronous and can appear earlier or later than after standard IVF. The cytogenetic risk after subzonal insemination might therefore be triploidy (if a triploid egg is transferred, because only 2 PN were seen) rather than aneuploidy or structural abnormalities.
Applicability of DNA isolated from syncytiotrophoblast vesicles to gene amplification and molecular analysis
Authors: Colucci G. , Pesenti E. , Molteni E. , Lobbiani A. , De Andreis C. , Pariani S. , Rossella F. , Semprini A. E. , Simoni G. 
Published: March 2007

AbstractMaternal contamination of fetal DNA represents a major problem when highly sensitive molecular techniques are used in the prenatal diagnosis of genetic diseases. For this reason, we have studied the possibility of using DNA isolated from syncytiotrophoblast vesicles as a target of gene amplification (PCR). Three PCR systems were selected which included a repetitive 149 bp fragment of the Y chromosome, the VNTR locus D1S80, and a portion of the β‐globin gene. The results of these experiments indicate that DNA isolated from syncytiotrophoblast vesicles is free of maternal contamination and is suitable for gene amplification and DNA analysis.
False‐positive amniotic fluid acetylcholinesterase analysis in the third trimester
Authors: Suchy Sharon F. , Yeager Maria T. 
Published: March 2007

AbstractThirty‐two third‐trimester amniotic fluid samples were studied according to the indication for amniocentesis, result of acetylcholinesterase (AChE) analysis, and outcome, in order to address the issue of the effectiveness of AChE testing late in gestation. The results indicate that third‐trimester AChE analysis is less effective than second trimester in distinguishing open neural tube defects (ONTDs) and ventral wall defects (VWDs) from other abnormalities. False‐positive results occurred in cases of isolated hydrocephaly (four of seven cases), polyhydramnios, and intrauterine growth retardation (IUGR). Caution is recommended in interpreting third‐trimester AChE tests, particularly when neither an ONTD nor a VWD is observed by ultrasound.
First‐trimester diagnosis of duodenal stenosis associated with oesophageal atresia
Authors: Tsukerman G. L. , Krapiva G. A. , Kirillova I. A. 
Published: March 2007

AbstractDuodenal stenosis associated with oesophageal atresia was diagnosed by ultrasound at 12 weeks' gestation. The diagnosis was made by recognition of a double bubble sign which was more pronounced when a vaginal transducer was used. Post‐abortion autopsy confirmed the diagnosis. Oesophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha‐fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation.
Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis
Authors: Verschraegen‐Spae M. R. , Van Roy N. , De Perdigo A. , De Paepe A. , Speleman F. 
Published: March 2007

AbstractThe nature and origin of two de novo small marker chromosomes found at prenatal diagnosis were determined by fluorescence in situ hybridization using chromosome centromere‐specific probes and chromosome‐specific plasmid libraries. One marker was found in a mosaic state and was shown to be an i(18p). The second marker was characterized as an inv dup(22). We conclude that molecular cytogenetic analysis contributes to the identification of marker chromosomes and therefore facilitates genetic counselling and decision‐making for the parents.
Prenatal diagnosis of isolated bilateral microphthalmia with confirmation by evaluation of products of conception obtained by dilation and evacuation
Authors: Shulman Lee P. , Gordon Patricia L. , Emerson Donald S. , Wilroy R. Sidney , Elias Sherman 
Published: March 2007

AbstractWe describe the prenatal diagnosis of isolated bilateral fetal microphthalmia in a woman at increased risk of having a fetus with microphthalmia. Ultrasound examinations at 161 and 19‐5 weeks' gestation demonstrated bilateral fetal microphthalmia with no other associated structural defects. The patient elected to terminate her pregnancy at 19.5 weeks. Pathological evaluation of the products of conception obtained by dilation and evacuation confirmed the prenatal diagnosis of isolated bilateral fetal microphthalmia.
Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia
Authors: Gullino Elena , Abrate Mario , Zerbino Ezio , Bricchi Giuseppe , Rattazzi Pier Dino 
Published: March 2007

AbstractA prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19‐week‐old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs associated with articular anomalies together with absence of active fetal movements. A therapeutic interruption of pregnancy was performed and the diagnosis was confirmed. At autopsy, architectural disorder of the motor neurons of the anterior medullary horn revealed a neuropathic pathogenesis of the arthrogryposis. Moreover, at the lumbar level the spinal cord was progressively replaced by heterotopic bony tissue which caused a more severe deformity of the lower limbs compared with the upper. The aspects of anatomo‐pathological, genetic, and differential diagnosis are discussed showing the precocity of the prenatal diagnosis and the peculiarity of the aetiology of our case.
β‐glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid
Authors: Chabás A. , Guardiola A. 
Published: March 2007

AbstractFour pregnancies at risk for mucopolysaccharidosis VII were monitored by chorionic villus sampling obtained in the first or second trimester of gestation. One fetus showed reduced β‐glucuronidase activity following simultaneous sampling of chorionic villus and amniotic fluid at 17 weeks of gestation. The pregnancy was terminated. Subsequent assay of β‐glucuronidase activity in the fetal tissues was consistent with a diagnosis of mucopolysaccharidosis VII, thus confirming that chorionic villus samples provide useful information for diagnosis of this condition.
Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy
Authors: Sims Cynthia J. , Fujito Don T. , Burholt Dennis R. , Dadok Josef , Giles Harlan R. , Wilkinson D. Allan 
Published: March 2007

AbstractWe have investigated the ability of high‐resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid‐trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a‐fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two‐dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained.
Disappearing lung echogenicity in fetal bronchopulmonary malformations: A reassuring sign?
Authors: Meagher Simon E. , Fisk Nicholas M. , Harvey Jonathan G. , Watson Geoffrey F. , Boogert Antheunis 
Published: March 2007

AbstractCongenital bronchopulmonary malformations detectable on prenatal ultrasound include cystic adenomatoid malformation (CAM), lobar sequestration, and upper airway atresia. We describe three fetuses with prenatally detected intrathoracic lesions in which the associated pulmonary hyperechogenicity disappeared before delivery. In the first case of pulmonary sequestration, the infant was asymptomatic after birth. However, in a case of CAM and another with laryngeal atresia, respiratory distress developed after delivery, despite recent scans showing apparently normal lung fields. This experience suggests that ultrasonic resolution of hyperechogenic lung lesions in utero does not necessarily indicate resolution of the underlying pathology.
Sonographic diagnosis of fetal congenital cataracts
Authors: Zimmer Etan Z. , Bronshtein Moshe , Ophir Ela , Meizner Israel , Auslender Ron , Groisman Gabriel , Meyer Hava 
Published: March 2007

AbstractFive fetuses with congenital cataracts diagnosed in utero by ultrasound are reported. The fetuses, who were between 14 and 27 weeks' gestation, also had other severe malformations. The sonographic features of the cataracts are presented.
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome
Authors: Bronshtein M. , Gershoni‐Baruch R. 
Published: March 2007

AbstractTransvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster‐claw deformities of the hands and feet, in keeping with the diagnosis of EEC syndrome (ectrodactyly or lobster‐claw deformity, ectodermal dysplasia, and cleft lip and palate). The fetus was aborted and the diagnosis of EEC syndrome was confirmed.
A comparison of total and free β‐HCG assays in Down syndrome screening
Authors: Stone S. , Henley R. , Reynolds T. , John R. 
Published: March 2007

AbstractFree β‐HCG is a new analyte that has been suggested to be superior to total HCG when used in combination with alpha‐fetoprotein (AFP) for Down syndrome risk screening in early pregnancy. We have evaluated this claim on 21 samples collected from Down syndrome pregnancies and 180 samples from unaffected pregnancies. The detection rates for the combination of AFP with free β‐HCG or the combination of AFP with total HCG were identical (71 per cent) but the initial screen positive rate (equivalent to the false‐positive rate) was 7·5 per cent for AFP+free β‐HCG screening compared with 3·5 per cent for AFP+ total HCG screening. We conclude that the case for free β‐HCG is unproven and suggest that further data be collected before free β‐HCG becomes acceptable.
Myasthenia gravis with polyhydramnios in the fetus of an asymptomatic mother
Authors: Verspyck E. , Mandelbrot L. , Dommergues M. , Huon C. , Woimant F. , Baumann C. , Garabedian B. Vernet‐Der 
Published: March 2007

AbstractTransient myasthenia gravis was observed in an infant whose mother had no signs of neuro‐muscular disease. The case presented with severe polyhydramnios at 31 weeks. Sonographic and invasive work‐up showed only an absence of fetal swallowing. At birth, the infant had severe muscle weakness and respiratory distress. He had high titres of anti‐acetylcholine receptor (anti‐AChR) antibodies of maternal origin. Anti‐AChR antibodies were also found in stored samples of fetal serum and amniotic fluid. To our knowledge, this is the first case of neonatal myasthenia gravis for which neither past nor present evidence of disease could be obtained in the mother. Anti‐AChR antibody testing should be considered in cases of unexplained polyhydramnios.
Fetal renal artery flow velocity waveforms in the presence of congenital renal tract anomalies
Authors: Wladimiroff J. W. , Heydanus R. , Stewart P. A. , Cohen‐Overbeek T. E. , Brezinka Ch. 
Published: March 2007

AbstractColour Doppler flow mapping of the renal arteries and subsequent pulsed Doppler measurement of impedance to flow in these vessels were attempted in 33 fetuses with postnatally confirmed renal pathology. The majority presented with unilateral or bilateral hydronephro‐sis (n = 21) and bilateral renal agenesis (n = 8). Renal artery blood flow could be visualized in all, except for the eight cases of bilateral renal agenesis. Bilateral flow velocity recordings were collected in six out of 12 cases of bilateral hydronephrosis and in five out of nine cases of unilateral hydronephrosis. The pulsatility index (PI), as a measure of downstream impedance, was in the normal range in 16 out of 18 kidneys (88 per cent) in bilateral hydronephrosis and in 12 out of 14 kidneys (85 per cent) in unilateral hydronephrosis. The PI was significantly higher in severe hydronephrosis compared with mild hydronephrosis. In four cases of unilateral multicystic kidney, the PI was always higher on the affected side. Colour Doppler flow mapping and pulsed Doppler evaluation may be helpful in our understanding of renal vascularization in renal pathology and in confirming the diagnosis of renal agenesis.
First‐trimester free beta (hCG) screening for Down syndrome
Authors: Macri James N. , Spencer Kevin , Aitken David , Garver Kenneth , Buchanan Philip D. , Muller Françoise , Boue Andre 
Published: March 2007

AbstractMaternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.
Walker‐Warburg syndrome: Prenatal ultrasound findings
Authors: Vohra Nidhi , Ghidini Alessandro , Alvarez Manuel , Lockwood Charles 
Published: March 2007

AbstractThe prenatal sonographic findings in a case of Walker‐Warburg syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy‐Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this syndrome, ocular abnormalities are rather characteristic for this syndrome and they should be searched for in every case of hydrocephaly or encephalocele.
First‐trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography
Authors: Dimaio Miriam S. , Barth Richard , Koprivnikar Kathryn E. , Sussman Betsy L. , Copel Joshua A. , Mahoney Maurice J. , Byers Peter H. , Cohn Daniel H. 
Published: March 2007

AbstractOsteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic for a mutation in the gene (COL1A2) which encodes the α2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutation in amplified chorionic villus genomic DNA. Ultrasound examination at 13 weeks 4 days demonstrated femoral deformity and virtual absence of calvarial mineralization. In pregnancies at risk for osteogenesis imperfecta type II, sonographic evidence of skeletal abnormalities may be evident by 13 weeks' gestation.
Transvaginal sonographic detection of skeletal anomalies in the first and early second trimesters
Authors: Bronshtein M. , Keret D. , Deutsch M. , Liberson A. , Chava I. Bar 
Published: March 2007

AbstractWe report the detection of 42 cases of musculoskeletal anomalies routinely screened by transvaginal sonography at 12‐16 weeks of gestation out of 7325 examined pregnant women (incidence of 0·57 per cent).
Emotional reactions in women in late pregnancy (24 weeks or longer) following the ultrasound diagnosis of a severe or lethal fetal malformation
Authors: Hunfeld J. A. M. , Wladimiroff J. W. , Passchier J. , Uden M. Uniken Venema‐Van , Frets P. G. , Verhage F. 
Published: March 2007

AbstractWe studied the emotional reactions of 41 women in late pregnancy shortly after they had been informed of the diagnosis of ‘severe or lethal fetal malformations’ and 3 months after delivery. In addition, situational variables were explored as determinants of grieving. While grief did not diminish during the study period, psychological instability was less pronounced at 3 months after delivery. More grief reactions were evoked by self‐reported easily versus self‐reported not easily initiated pregnancy, gestational age between 24 and 34 weeks versus beyond 34 weeks, multiparity versus primiparity, and viewing versus not viewing the baby.