bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intrauterine mediastinal teratoma associated with non‐immune hydrops fetalis
Authors: Weinraub Z. , Gembruch U. , Födisch H. J. , Hansmann M. 
Published: March 2007

AbstractWe describe a rare case of non‐immune hydrops fetalis caused by mediastinal teratoma. The sonographic appearance was that of a mixed cystic and solid mass in the antero‐superior mediastinum. The teratoma, on post mortem, extended cranially to the upper part of the thyroid, exerting pressure and causing deviation of the trachea, oesophagus, and aortic arch. The pathogenesis of non‐immune hydrops fetalis suggests obstruction of venous return caused by this tumour.
Direct preparations from chorionic villi–relationship between villous morphology and mitotic index
Authors: Romagnano A. , Featherstone T. , Sun L. , Crane J. P. , Cheung S. W. 
Published: March 2007

AbstractIt has been postulated that chorionic villi with abundant sprouts have a higher mitotic index and are therefore preferable for obtaining direct chromosome preparations from chorionic villus samples. This theory was tested by correlating villous morphology with mitotic index. Surprisingly, no statistically significant relationship was found. Choice of culture medium, however, was found to be important, with serum‐free RPMI yielding a higher mitotic index than 40 per cent FCS in MEM. We conclude that villous morphology, as assessed in this study, is not a major factor in determining the success of direct chromosome preparations.
Prenatal screening and diagnosis of neural tube defects in England and Wales in 1985
Authors: Cuckle H. S. , Wald N. J. , Cuckle P. M. 
Published: March 2007

AbstractA survey was carried out to determine the effect of prenatal screening and therapeutic abortion on births in 1985 with anencephaly and spina bifida in England and Wales. Maternal serum alpha‐fetoprotein tests were done on 399 288 women (60 per cent of pregnant women): 4 per cent were reported as being screen‐positive and 1 per cent had an amniocentesis. An estimated 534 pregnancies associated with anencephaly were terminated and an estimated 445 pregnancies associated with spina bifida (but without anencephaly) were terminated. Most (63 per cent) of the anencephalic pregnancies were first suspected from an ultrasound examination; 57 per cent of the spina bifida pregnancies were first suspected from a positive maternal serum alpha‐fetoprotein test, 35 per cent by ultrasound, and the remaining 8 per cent by other means. The birth prevalence of anencephaly declined by 94 per cent between 1964–1972 and 1985, but when the terminations of pregnancy on account of having a fetus with anencephaly are added to the births the decline in prevalence was only 50 per cent. The birth prevalence of spina bifida declined by 68 per cent over the same period but when the terminations were added to the births the decline in prevalence was only 32 per cent. Among births with anencephaly 66 per cent had had no screening or diagnostic tests in early pregnancy, but in those that did nearly all were positive–usually in twin pregnancies where one fetus was affected but not the other. Among births with spina bifida, 48 per cent had no tests and in those that did the results were mainly negative. We conclude that in order to monitor adequately the national screening programme for anencephaly and spina bifida a special neural tube defects register should be formed.
Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy
Authors: Kleijer W. J. , Hussaarts‐Odijk L. M. , Los F. J. , Pijpers L. , de Bree P. K. , Duran M. 
Published: March 2007

AbstractPrenatal diagnosis was performed in two successive pregnancies of a mother with a previous child with purine nucleoside phosphorylase (PNP) deficiency. In one pregnancy, an affected fetus was diagnosed in the 18th week of gestation after the demonstration of PNP deficiency in cultured amniotic fluid cells. Also an abnormal purine nucleoside profile was found in the amniotic fluid. The diagnosis of an affected fetus was confirmed by the analysis of cultured fetal skin fibroblasts and placental villi. The complete deficiency of PNP activity in placental villi confirms that the prenatal diagnosis of this disorder is possible by the direct investigation of chorionic villi. In the subsequent pregnancy, a heterozygous fetus was predicted in the tenth week of pregnancy by using chorionic villi.
Prenatal diagnosis of phenylketonuria by haplotype analysis
Authors: Wulff K. , Wehnert M. , Schütz M. , Seidlitz G. , Herrmann F. H. 
Published: March 2007

AbstractPrenatal diagnosis of classic phenylketonuria (PKU) was performed after chorionic villus sampling by means of linked restriction fragment length polymorphisms (RFLPs) using the cDNA probe ph PAH 247 (Kwok et al. (1985) Biochemistry, 24, 556–561). We report in this paper a PKU family who were only informative for RFLP analysis by a combination of two RFLPs on the basis of haplotype determination of the normal and mutant phenylalanine hydroxylase (PAH) alleles. The DNA analysis detected a PKU fetus homozygous for mutant PAH alleles and the mother opted for termination in the 12th week of gestation.
Trisomy 16 detected at chorion villus sampling
Authors: Hashish A. F. , Monk N. A. , Lovell‐Smith M. P. F. , Bardwell L. M. , Fiddes T. M. , Gardner R. J. M. 
Published: March 2007

AbstractTrisomy 16 detected at chorion villus sampling (CVS) may reflect the placental but not the fetal karyotype. We describe a case in which the pregnancy continued until intrauterine death at 37 weeks. Cytogenetic study of two placental samples showed 47, +16 and 46,XX; the fetus was morphologically grossly normal, but fetal tissue culture was unsuccessful. Conservative management may be appropriate when trisomy 16 is detected at CVS and the pregnancy is normal ultransonographically.
Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample
Authors: von Koskull Harriet , Ritvanen Annukka , Ämmälä Pirkko , Gahmberg Nina , Salonen Riitta 
Published: March 2007

AbstractTrisomy 12 mosaicism (44 per cent) was detected prenatally in cultured amniocytes. A cordocentesis was performed to confirm the result. Only normal cells were found in the fetal blood sample. The fetus was estimated to be at a low risk of having a chromosomal abnormality and the pregnancy continued. Eight days after birth, a congenital heart defect was detected in the child. Several dysmorphic features were also evident. Further karyotyping of different tissues revealed normal blood and urinary cells but trisomic cells in the placenta (100 per cent) and in skin fibroblasts (25 per cent). The child died at 5 weeks of age. In this case, the fetal blood sample failed to reveal the real chromosome constitution of the fetus.
Resorbed co‐twin as an explanation for discrepant chorionic villus results: Non‐mosaic 47,XX, +16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood
Authors: Tharapel Avirachan T. , Elias Sherman , Shulman Lee P. , Seely Linda , Emerson Donald S. , Simpson Joe Leigh 
Published: March 2007

AbstractNon‐mosaic trisomy 16 was observed in chorionic villus cytotrophoblasts (direct) as well as cultured mesenchymal core cells derived from the pregnancy of a 38‐year‐old woman. Chromosome preparations from amniotic fluid and neonatal cultures (cord blood) were 46,XX. Normal fetal growth as determined by serial ultrasound examinations occurred throughout the pregnancy, which resulted in a healthy 2724 g female. Multiple biopsies taken from the umbilical cord, placental cotyledons, and fetal membranes were 46,XX. However, a placental nodule and three of six cultures initiated from membranes (amnion and chorion) showed 46,XX/47,XX, + 16 mosaicism.We propose that the trisomy 16 cells arose from residual villi derived from a trisomic cotwin that never developed. This case further demonstrates that normal fetal growth may presage normal outcome irrespective of cytogenetic findings in cytotrophoblasts (direct) and cultured mesenchymal core cells.
Prenatal diagnosis and psychological distress: Amniocentesis or chorionic villus biopsy?
Authors: Sjögren B. , Uddenberg N. 
Published: March 2007

AbstractThe psychological reactions of 211 women undergoing prenatal diagnosis (PND) with amniocentesis (group A, n = 122) or chorionic villus biopsy (group V, n = 90) were exmained by questionnaires and interviews. The distress experienced while waiting for the test, during the test procedure, and while waiting for the result was reported by the women, both in questionnaires and in interviews. In the questionnaires, no difference between the two diagnostic methods was observed. In the interviews, however, the women undergoing amniocentesis appeared significantly more distressed by the procedure. In group A 97 per cent and in group V 100 per cent wished a method which, like chorionic villus biopsy, could be used in the first weeks of pregnancy. The risk of miscarriage was, as described in other studies, regarded as a serious threat by the pregnant women.
Rapid sexing of human embryos by non‐radioactive in situ hybridization: Potential for preimplantation diagnosis of X‐linked disorders
Authors: Penketh R. J. A. , Delhanty J. D. A. , van den Berghe J. A. , Finklestone E. M. , Handyside A. H. , Malcolm S. , Winston R. M. L. 
Published: March 2007

AbstractSixty spare human embryos at various stages of preimplantation development were prepared for cytogenetic analysis. Fluorescent staining of those with metaphases allowed scoring for the presence of a Y chromosome. In situ hybridization was then performed using a biotinylated Y‐specific sequence, and the probe was detected by a standard streptavidinlinked alkaline phosphatase system. This enabled comparison of the chromosomal sex with that obtained after in situ hybridization in 28 embryos, and the sexing result obtained by the two methods was concordant in all cases. A further 21 embryos in which no metaphase chromosomes were obtained were sexed by biotinylated in situ hybridization only. Overall, 66 per cent of male interphase nuclei demonstrated a Y‐specific hybridization signal. Results were obtained in under 24 h, which may permit the sexing of an embryo biopsied during cleavage and the transfer of sexed embryos at the blastocyst stage to the mother's uterus in the same cycle as oocytes are collected for in vitro fertilization.
Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn
Authors: Park Jonathan P. , Moeschler John B. , Rawnsley Eileen , Berg Susan Z. , Wurster‐Hill Doris H. 
Published: March 2007

AbstractPrenatal diagnosis of trisomy 20 mosaicism in this case was based on cytogenetic analysis of cultured amniotic fluid cells (23/52 cells were trisomy 20 representing cells from each of four primary cultures). The pregnancy continued to term and the mosaicism was confirmed in the phenotypically normal male neonate by analysis of cultured foreskin fibroblasts (7/49 cells + 20) and placental cells 20/20 cells + 20) whereas the peripheral lymphocytes were cytogenetically normal (20/20 cells were 46,XY). This represents the first confirmation of trisomy 20 mosaicism in a phenotypically normal full‐term neonate.
Confirmation of a balanced chromosomal translocation using molecular techniques
Authors: Smart R. D. , Retief A. E. , Overhauser Joan 
Published: March 2007

AbstractInvestigation of a couple, who had produced three babies with cri du chat syndrome, showed initially that the mother had an apparent deletion of chromosome 5. It seemed likely that she had a balanced chromosomal translocation but it proved impossible to detect the second chromosome involved using routine cytogenetic methods.Molecular techniques using quantitative hybridization dosage studies were performed and these showed that the mother had a double dose of DNA in the suspected delected area of chromosome 5.Further studies, using in situ hybridization techniques, revealed that the missing segment of chromosome 5 had translocated onto the short arms of a C group chromosome and further analysis of prometaphase chromosomes showed the presence of a balanced translocation, 46,XY, t(5;9)(5qter → 5p14.1::9p22 → 9pter;9qter → p22::5p14.1 5pter).As a result of these findings, it was possible to offer prenatal diagnosis to the patient in furture pregnancies, by detecting the presence of a balanced or unbalanced translocation in the fetus using molecular and cytogenetic techniques.
Cardiac and extra‐cardiac anomalies as indicators for trisomies 13 and 18: A prenatal ultrasound study
Authors: Wladimiroff J. W. , Stewart P. A. , Reuss A. , Sachs E. S. 
Published: March 2007

AbstractThe purpose of the present study was to establish sonographic markers for prenatal diagnosis of trisomies 13 and 18. Retrospective analysis of sonographic morphology was therefore carried out in seven fetuses with trisomy 13, and 16 fetuses with trisomy 18. Gestational age ranged between 17 and 39 weeks (median 28 weeks). Polyhydramnios and symmetrical growth retardation were present in 14 of 23 fetuses. A cardiac anomaly was diagnosed in all 23 fetuses, the majority representing a ventricular septal defect (n = 8) or double outlet right ventricle (n = 8). Extra‐cardiac anomalies were characterized by a high incidence of limb deformities (polydactyly, clenched hands, club feet; n = 15) and omphalocele (n = 7).We conclude that the combined appearance of cardiac and extra‐cardiac anomalies should prompt fetal karyotyping. Cardiac anomalies in combination with fetal limb deformities and omphalocele are suspicious for trisomies 13 and 18.
Achondrogenesis type II (Langer–Saldino) in association with jugular lymphatic obstruction sequence
Authors: Wenstrom Katharine D. , Williamson Roger A. , Hoover William W. , Grant Stanley S. 
Published: March 2007

AbstractThe prenatal diagnosis of achondrogenesis in association with cystic hygroma is described. Ultrasound findings of severe short‐limbed dwarfism, decreased vertebral ossification, and normal ossification of the calvarium were all consistent with achondrogenesis type II. Although the unusual finding of associated cystic hygroma raised the suspicion of a concurrent chromosome abnormality, the karyotype of both fetal lymphocytes and fetal fibroblasts was normal. Autopsy confirmed dilated lymphatic channels in the basal endothelial layer of the skin, cystic hygroma, and coarctation of the aorta. Although previously unreported, we suggest that the features of this case of achondrogenesis indicate an association with lymphatic stasis and jugular lymphatic obstruction sequence in this syndrome.
Abnormal pregnancy sonogram and chromosomal anomalies: Four years' experience with rapid karyotyping
Authors: Hentemann M. , Rauskolb R. , Ulbrich R. , Bartels I. 
Published: March 2007

AbstractOver a four‐year period, 140 pregnancies with different malformations detected by ultrasound were examined cytogenetically. Gestational age ranged from 13 to 36 weeks. Twenty‐six fetuses (18.6 per cent) had abnormal karyotypes, including trisomies, triploidy, monosomy X, and structural anomalies. Similar malformations were found in fetuses with different chromosomal anomalies, indicating that the types of malformations are not specific for particular chromosomal anomalies.Chromosomal analysis was performed on amniotic fluid culture and by direct karyotyping of placental biopsies. Direct karyotyping is suggested to be the most rapid approach, especially if sonographic anomalies are detected close to the 24th week of gestation, shortly before delivery, and in cases of significant oligohydramnios.
Prenatal diagnosis of fetal glioblastoma multiforme
Authors: Geraghty A. V. , Knott P. D. , Hanna H. M. 
Published: March 2007

AbstractIntracerebral tumours of the fetus are very rare conditions, most often presenting clinically as polyhydramnios and hydrocephalus. These conditions can be diagnosed with ultrasound and clearly differentiated from hydrocephalus and other intracranial lesions. The following report is of a case of an intracerebral tumour (glioblastoma multiforme) diagnosed at 33 weeks in utero using ultrasound. The prognosis for this condition is universally poor.
Prenatal diagnosis of β‐thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes
Authors: Ristaldi M. S. , Pirastu M. , Rosatelli C. , Monni G. , Erlich H. , Saiki R. , Cao A. 
Published: March 2007

AbstractIn this study, we describe a simple strategy to detect β‐thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non‐radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.
Schizencephaly: Prenatal diagnosis by computed sonography and magnetic resonance imaging
Authors: Lituania M. , Passamonti U. , Cordone M. S. , Magnano G. M. , Toma P. 
Published: March 2007

AbstractMagnetic resonance (MR) imaging was performed at 29 weeks of pregnancy after ultrasonographic detection of an abnormal cleft in the fetal brain. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of schizencephaly improving the visualization of symmetrical broad clefts connecting the lateral ventricles with the subarachnoid space. Schizencephaly was finally confirmed by neonatal US, computed tomography, and MR.
Prenatal diagnosis of Lesch‐Nyhan syndrome: Experience with three fetuses at risk
Authors: Zoref‐Shani E. , Bromberg Y. , Goldman B. , Shaki R. , Barkai G. , Legum C. , Sperling O. 
Published: March 2007

AbstractOur experience with the prenatal detection of the Lesch‐Nyhan syndrome (LNS; hypoxanthine‐guanine phosphoribosyltransferase (HGPRT) deficiency) in three fetuses at risk is reported. Enzyme activities were measured in cultured amniocytes in two pregnancies, and in tissues and cultures obtained from chorionic villus sampling (CVS) in a third pregnancy. In all tissues the specific activities of HGPRT and adenine phosphoribosyltransferase (APRT) were determined and APRT/HGPRT ratios were calculated. In addition to the enzyme assays, the rate of purine synthesis de novo was assessed in the two amniocyte cultures, and the rate of [14C]hypoxanthine incorporation into nucleotides and sensitivity to azaguanine were measured in one of the amniocyte cultures. We report the diagnosis of normal fetuses by study of amniocytes in two pregnancies and of LNS using CVS in one pregnancy. In all three cases the diagnosis was confirmed.
Unexpected ultrasonographic prenatal diagnosis of autosomal dominant polycystic kidney disease
Authors: Journel H. , Guyot C. , Barc R. M. , Belbeoch P. , Quemener A. , Jouan H. 
Published: March 2007

AbstractThe prenatal diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is now being reported with increasing frequency. We report three cases and review 12 cases of ADPKD diagnosed in the fetus by ultrasonographic findings. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ADPKD. Renal cysts are uncommon. Diagnosis is easy in a family with a positive ADPKD history. Conversely, there may be no apparent family history, as in our three cases and three cases from the literature. We consider the problems of unexpected diagnosis, family investigation, and the prognosis of ADPKD in children with prenatally diagnosable forms.
Trisomic 22 placenta in a case of severe intrauterine growth retardation
Authors: Stioui S. , de Silvestris M. , Molinari A. , Stripparo L. , Ghisoni L. , Simoni G. 
Published: March 2007

AbstractWe describe a case in which a trisomic 22 placenta could be the cause of severe growth retardation in a chromosomally normal female fetus. At amniocentesis a mosaic 46,XX/ 47,XX, +22 was observed in amniotic fluid specimens sampled on two different occasions, while fetal blood from a diagnostic cordocentesis revealed a normal chromosome constitution. Postnatal studies showed the consistent presence of trisomic 22 cells in the placenta, while only normal metaphases were found in amnion, blood, and fibroblast cultures.
MATERNAL SERUM ALPHA‐FETOPROTEIN SCREENING FOR OPEN NEURAL TUBE DEFECTS IN TWIN PREGNANCIES
Authors: Cuckle H. , Wald N. , Stevenson J. D. , May H. M. , Ferguson‐Smith M. A. , Ward A. Milford , Barbour H. M. , Laurence K. M. , Norgaard‐Pedersen B. 
Published: March 2007

AbstractData on maternal serum alpha‐fetoprotein (AFP) levels at 13–24 weeks' gestation in 46 twin pregnancies with open neural tube defects (22 with anencephaly, 24 with open spina bifida) and 169 unaffected twins were used to estimate the detection and false‐positive rates associated with different cut‐off levels. Using the conventional cut‐off level of 2·5 multiples of the median (MoM) for unaffected singleton pregnancies of the same gestation and laboratory, the detection rate in twins was 99 per cent for anencephaly and 89 per cent for open spina bifida, with a false‐positive rate of 30 per cent. Using a 5·0 MoM cut‐off level to maintain a similar false‐positive rate to that found among singleton pregnancies at 16–18 weeks' gestation (about 3 per cent), the detection rate was 83 per cent for anencephaly and 39 per cent for open spina bifida. Estimates are provided of the odds of having an affected twin pregnancy given a positive AFP result as well as the odds for individual women with a raised AFP level.
Early amniocentesis: Experience of 222 consecutive patients, 1987–1988
Authors: Nevin J. , Nevin N. C. , Dornan J. C. , Sim D. , Armstrong M. J. 
Published: March 2007

AbstractEarly amniocentesis from 9 to 14 weeks' gestation provides a safe and accurate method of prenatal diagnosis of cytogenetic and biochemical disorders. There was a 100 per cent success rate in culturing the amniotic cells from 222 samples obtained between 9 and 14 weeks' gestation. Follow‐up of the patients to delivery revealed an abortion rate of 1·4 per cent. Among the 207 live‐ and stillborn infants, only one had a congenital abnormality (bilateral talipes equino‐varus) and no infant had respiratory distress syndrome or pneumonia. Eleven pregnancies were terminated following the detection of a chromosomal, biochemical, or congenital abnormality (5·0 per cent). However, before the procedure of early amniocentesis becomes routine clinical practice, it requires appraisal by a randomized clinical trial.
Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay
Authors: Zhao H. , Van Diggelen O. P. , Thoomes R. , Huumans J. , Young E. , Mazurczak T. , Kleijer W. J. 
Published: March 2007

AbstractA new fluorogenic substrate, 4 methylumbelliferylβ‐D‐6‐sulphogalactoside, was used for the assay of galactose‐6‐sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non‐affected fetus in one.