bluuebunny/crossref_metadata_2025_split huggingface dataset:
Echocardiographic diagnosis of fetal marfan syndrome at 34 weeks' gestation
Authors: Lopes Lilian M. , Cha Sang Choon , De Moraes Edécio Armbruster , Zugaib Marcelo 
Published: March 2007

AbstractFetal echocardiography was performed during the third trimester in a normal primigravida. The fetal heart was severely affected with the typical cardiac manifestations of Marfan syndrome. The medical history of the father was investigated and a mild form of the syndrome was diagnosed. The neonate died at 2 months of age of congestive heart failure.
Fetal cholecystomegaly: A prenatal marker of aneuploidy
Authors: Sepulveda Waldo , Nicolaidis Peter , Hollingsworth Jean , Fisk Nicholas M. 
Published: March 2007

AbstractThe fetal gall bladder can now be easily identified during the second and third trimesters using high‐resolution ultrasonography. In this report we present eight fetuses with an enlarged gall bladder detected on prenatal ultrasonography at a mean gestational age of 24.6 weeks (range 19–31 weeks). Additional ultrasonographic findings were present in four cases: fetal anomalies and intrauterine growth retardation in three and polyhydramnios in one. Of those cases associated with fetal anomalies, one woman underwent amniocentesis at 21 weeks revealing trisomy 18. The other two declined prenatal karyotyping; neonatal karyotyping revealed trisomy 13 in one and trisomy 18 in the other. Although an enlarged fetal gall bladder can be a normal variant in the second and third trimesters, the prenatal detection of cholecystomegaly should prompt a search for associated anomalies and other markers of aneuploidy. If found, prenatal karyotyping should be considered.
An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS)
Authors: Burton Barbara K. , Schulz Charlene J. , Angle Brad , Burd Laurence I. 
Published: March 2007

AbstractThe incidence of haemangiomas was ascertained by questionnaire in infants born to 578 consecutive CVS patients and 445 consecutive mid‐trimester amniocentesis patients seen at a single institution between 1 January 1989 and 31 May 1991. The incidence of 7·4 per cent reported in the amniocentesis group was comparable to previous estimates of the incidence of haemangiomas in the general population. In contrast, a 21·1 per cent incidence, three‐fold higher than that observed in the amniocentesis group, was observed among CVS‐exposed infants (P<0·001). This increased incidence was largely confined to patients undergoing a transcervical procedure. No correlation was observed between the incidence of haemangiomas and gestational age at sampling, sample size, number of sampling attempts, or a history of bleeding following the procedure.
Prenatal sonographic signs of possible fetal genital anomalies
Authors: Bronshtein Moshe , Riechler Avihai , Zimmer Etan Z. 
Published: March 2007

AbstractThe sonographic markers of female and male external genitalia have been documented in early and late gestation. The aim of the present study was to report our experience of possible sonographic markers of fetal genital anomalies. Sonography was performed with a vaginal probe in early gestation and an abdominal sector scanner in advanced gestation. The following genital anomalies were observed: hypospadias, epispadias, ambiguous genitalia, and testicular feminization or Smith‐Lemli‐Opitz syndrome. It is therefore concluded that prenatal diagnosis of some genital anomalies is now possible.
Genetic amniocentesis following multifetal pregnancy reduction to twins: Assessing the risk
Authors: Tabsh Khalil M. A. , Theroux Nancy L. 
Published: March 2007

AbstractFifty‐three patients who elected to reduce their pregnancies to a twin gestation in our centre are known to have subsequently undergone genetic amniocentesis. Five of these patients lost their entire pregnancy following the genetic amniocentesis procedure. This is equivalent to a 9·4 per cent pregnancy loss rate for reduced twin gestations in comparison with an expected loss rate of 2 per cent for non‐reduced twin gestations.
Serum lipid, apolipoprotein and lipoparticle levels in the human fetus
Authors: Legras B. , Durou M. R. , Ruelland A. , Gallou G. , Jezequel C. , Cloarec L. 
Published: March 2007

AbstractBlood collected from 62 fetuses aged 20–38 weeks of gestation was studied. The values of ten lipid parameters were determined: cholesterol (TC), triglycerides (TGs), apolipoprotein Al (apo A1), apolipoprotein B (apo B), apolipoprotein E (apo E), total apolipoprotein CIII (apo CIII), apolipoprotein CIII present in particles containing apo B (apo CIII LpB) or not (apo CIII Lp non‐B), lipoparticles A1 (LpA1), and lipoprotein a (Lp(a)). The results show that, except for apo E, all the studied parameters were present in lower concentrations than in adults and newborns, and that Lp(a) is not detectable at that stage in life.
Prenatal sonographic diagnosis of intracranial haemorrhage: Report of a case with a sinusoidal fetal heart rate tracing, and review of the literature
Authors: Catanzarite Val A. , Schrimmer David B. , Maida Cynthia , Mendoza Art 
Published: March 2007

AbstractThe sinusoidal fetal heart rate pattern has been described in association with severe fetal anaemia, with fetal hypoxaemia, and with the administration of parenteral narcotics. Here, we report a case of decreased fetal movement in which a sinusoidal tracing was recorded. The sonographic diagnosis of a massive fetal intracranial haemorrhage was made. A non‐interventive approach was taken and the fetus died soon after in utero. We review 28 previous cases in which the prenatal sonographic diagnosis of fetal intracranial haemorrhage was made, including the underlying maternal and fetal factors and neonatal outcomes. We propose that the sinusoidal tracing in this case was due to the intracranial bleed and suggest that fetal intracranial haemorrhage be considered in the sonographic evaluation of the fetus with a sinusoidal pattern.
Parental reaction and adaptability to the prenatal diagnosis of fetal defect or genetic disease leading to pregnancy interruption
Authors: Dallaire L. , Lortie G. , Des Rochers M. , Clermont R. , Vachon C. 
Published: March 2007

AbstractThe objective of the study was to evaluate the psychological reaction of two groups of parents to a pregnancy termination after they had undergone a prenatal diagnostic procedure. The analysis involved interviews with a study group of 76 patients who were at risk of giving birth to a child with a genetic disease or defect and a comparison group of 124 who had a pregnancy termination after a major anomaly had been detected by routine ultrasound and who were not at known risk for a genetic disease. Only patients in the study group had received counselling before the prenatal diagnosis and were aware that the fetus could be affected. The overall reaction of the comparison group was one of shock, denial of fetal abnormality, and guilt over ‘abandoning the fetus’. A feeling of guilt was expressed by patients in the comparison group (73 per cent versus 29 per cent) in the period immediately following the interruption. One‐third of patients in both groups felt obliged to undergo a therapeutic abortion. More patients in the study group than in the comparison group expressed the need to see a psychiatrist at the time of the study (19 per cent versus 7 per cent) and viewed future pregnancies as a replacement for the lost pregnancy (63 per cent versus 19 per cent). The recommendations of the study focus on information sessions to personnel, nursing support, analgesia during the expulsion period, an atmosphere of respect that should be present at the time that the fetus is viewed, the anticipation of mourning, and the long‐term follow‐up of the couple to ensure that counselling for future pregnancies and psychological support are provided when needed.
Prenatal diagnosis of familial ring 21 chromosome
Authors: Melnyk A. R. , Ahmed I. , Taylor J. C. 
Published: March 2007

AbstractRing chromosome 21 is a rare chromosome anomaly often associated with mental retardation and dysmorphic features. Less commonly, the ring chromosome can be familial and associated with a normal phenotype. Phenotypically normal female carriers, however, are at increased risk of having children with Down syndrome, mosaic monosomy 21, and variable duplication or deletion of chromosome 21. Because of the relative mitotic and meiotic instability of ring chromosomes, abnormal cytogenetic findings encountered during prenatal diagnosis may not reflect the true genetic status of the fetus. This is a report of a phenotypically normal female carrier of a familial ring 21 chromosome. Prenatal diagnosis on her twin pregnancy revealed a mosaic 46,XX,r(21)(p13;q22) (77 per cent)/45,XX, – 21 in one fetus and a normal male karyotype in the second. The pregnancy was carried to term. Both infants are completely normal, with a non‐mosaic ring 21 karyotype from the lymphocytes of one twin. The diagnostic uncertainty and problematic genetic counselling related to fetal cytogenetic abnormalities are the subjects of this report.
Blood transferrin receptor expression in chromosomally abnormal fetuses
Authors: Thilaganathan Baskaran , Meher‐Homji Nilaofer J. , Nicolaides Kypros H. 
Published: March 2007

AbstractIn a cross‐sectional study of 13 chromosomally abnormal fetuses, umbilical venous blood was obtained by cordocentesis at 17–32 weeks' gestation. Fetal blood transferrin receptor (CD71) expression (mean=79·8 per cent, range=60–98 per cent) and nucleated red cell count (mean=10·4 × 109 per 1, range=1·0–25·0 × 109 per 1) were significantly higher than the appropriate normal mean for gestation (z=3·92, P<0·0001 and z=3·69, P<0·001, respectively). These haematological changes in chromosomally abnormal fetuses would facilitate their prenatal diagnosis by analysis of fetal nucleated red blood cells isolated from the maternal circulation on the basis of CD71 expression.
46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long‐term culture and fetal tissue
Authors: Sijmons R. H. , Sikkema‐Raddatz B. , Kloosterman M. D. , Briet J. W. , De Jong B. , Leschot N. J. 
Published: March 2007

AbstractChorionic villus sampling (CVS) was performed on a 40‐year‐old woman at 9 1/2 menstrual weeks because of advanced maternal age. The direct preparation showed 46,XY,dup(10)(q11.2q23.2). CVS long‐term culture and fetal tissue revealed a rare additional abnormality: 48,XXXY,dup(10)(q11.2q23.2). This abnormality represented the major cell line (>85 per cent in 691 cells) in an (XY)/XXY/XXXY/(XXXXY) mosaic (all cell lines presumably bearing the dup(10q); the presence of XY and XXXXY cell lines is uncertain). To our knowledge, this is the first report of trisomy 10q11‐q23 and of prenatally detected 48,XXXY in chorionic villi. The mosaic could have resulted from early post‐zygotic non‐disjunctions in a 46,XY,dup(10q) or 47,XXY,dup(10q) zygote. The results from DNA studies of four polymorphisms, mapped to Xp and Xq, support this theory. The literature on prenatally detected cases with sex chromosome tetrasomy and pentasomy and those with additional autosomal abnormalities is reviewed. The reported case underlines the problem of false‐negative findings when only direct CVS preparations are karyotyped.
Assessment and management of fetal agenesis of the corpus callosum
Authors: Gupta Janesh K. , Lilford Richard J. 
Published: March 2007

AbstractPrenatal counselling for fetal agenesis of the corpus callosum is difficult as the prognosis until now has been so uncertain. We have reviewed the current world English literature to provide the best probabilistic information for prospective parents. In total, there are 70 cases where the diagnosis was made prenatally. The diagnosis of apparently isolated agenesis of the corpus callosum (in the absence of other sonographically detectable anomalies) appears to carry an excellent prognosis, with an 85 per cent chance of a normal developmental outcome and a 15 per cent risk of handicap. Fetal karyotyping is recommended as there is a 1 in 10 risk of aneuploidy. If other anomalies are detected prenatally, the outcome is very poor. Termination of pregnancy is advised in these circumstances.
Detection of fetomaternal haemorrhage associated with cordocentesis using serum α‐fetoprotein and the kleihauer technique
Authors: Van Selm Maria , Kanhai Humphrey H. H. , Van Loon Aren J. 
Published: March 2007

AbstractFetomaternal haemorrhage (FMH) was studied after 46 cordocenteses. α‐Fetoprotein (AFP) concentration and Kleihauer staining of maternal blood, taken both before and after the procedure, revealed increases in AFP values of more than 40 per cent in 30 per cent of the patients examined; fetal haemorrhage of more than 0.25 ml was detected in 46 per cent of the cases by the Kleihauer test. In the second trimester of pregnancy both techniques are comparable, while in the third trimester the Kleihauer technique appears to be more sensitive in detecting FMH after cordocentesis. An anterior position of the placenta is a risk factor for FMH.
Training obstetricians and midwives to present screening tests: Evaluation of two brief interventions
Authors: Smith D. K. , Shaw R. W. , Slack J. , Marteau T. M. 
Published: March 2007

AbstractThe objective of this study was to assess the effects of two brief training interventions to improve obstetricians' and midwives' explanations to patients of a routine prenatal screening test. Health professionals were randomly allocated to one of two intervention groups or a control group. Information‐giving about the test and communication skills were assessed at baseline, post‐training and 3‐month follow‐up from audiotaped consultations. Both intervention groups received a 1‐h training session involving small group discussions focused around a video. In addition, one group received individual feedback on their baseline and post‐training consultations. Twenty‐six midwives and nine obstetricians completed the study according to the protocol. Changes between baseline and post‐training, and between baseline and follow‐up, were computed. Information‐giving and communication skills improved significantly in subjects receiving training and feedback on their performance, with the greatest improvements occurring before feedback was given. Those receiving training without feedback significantly improved their communication skills and showed some improvement in information‐giving. These results show that modest improvements in communication can be made with relatively brief training. Greater and more sustained improvements may be found if all staff were trained, and trained on a regular basis.
Neutrophil and monocyte β2‐integrin expression in trisomic fetuses
Authors: Makrydimas G. , Thilaganathan B. , Plachouras N. , Nicolaides K. H. 
Published: March 2007

AbstractFlow cytometry was used to measure neutrophil and monocyte β2‐integrin expression in fetuses with trisomy 18 (n=7) and trisomy 21 (n=7) at 20–25 weeks' gestation. The values were compared with those of 112 chromosomally normal fetuses. There were no significant differences in β2‐integrin expression between normal and aneuploid fetuses. These findings demonstrate that in trisomies 21 and 18, alteration in β2‐integrin expression is unlikely to contribute to the pathogenesis of immunological deficiencies that have been observed in these aneuploidies both prenatally and postnatally.
Lesch—Nyhan syndrome: Carrier and prenatal diagnosis
Authors: Alford R. L. , Redman J. B. , O'brien W. E. , Caskey C. T. 
Published: March 2007

AbstractWe report the results of carrier and prenatal diagnosis for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, Lesch—Nyhan syndrome, by carrier testing of 83 women and prenatal analysis of 26 pregnancies. Our diagnostic methodologies include mutation detection and linkage analysis for probands and their families and biochemical measurement of HPRT enzyme activity for at‐risk pregnancies. Identification of the mutation in the index case of each family permits precise carrier diagnosis using polymerase chain reaction (PCR) amplification of HPRT gene sequences and automated DNA sequencing. We demonstrate 100 per cent sensitivity for the detection of mutations in the HPRT gene of affected males and highly efficient carrier testing of at‐risk females. Two other molecular methods proven to have high utility include PCR‐based dosage analysis and linkage analysis by PCR amplification of a short tandem repeat (STR) in intron 3 of the HPRT gene. As a result, 45 at‐risk women, 56 per cent of those tested, were identified not to be carriers of their family's HPRT gene mutation. Seven of these women were the mothers of affected males and prenatal testing for future pregnancies was recommended because of the possibility of gonadal mosaicism. Thirty‐eight of these women were more distant relatives of affected males, thereby eliminating the need for future prenatal procedures. These studies illustrate the utility and precision of molecular methodologies for carrier and prenatal diagnosis of Lesch—Nyhan syndrome. These studies also illustrate that molecular diagnostic studies of affected males and carrier testing prior to pregnancy can clarify genetic risk predictions and eliminate unnecessary prenatal procedures.
Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion
Authors: Liu Jiaen , Lissens Willy , Van Broeckhoven Christine , Löfgren Ann , Camus Michel , Liebaers Ingeborg , Van Steirteghem André 
Published: March 2007

AbstractTo perform preimplantation DNA diagnosis for Duchenne muscular dystrophy (DMD) in a female carrier of a dystrophin gene deletion of exons 3–18, we developed a polymerase chain reaction (PCR)‐based assay of exon 17 sequences. Exon 17 was efficiently amplified in all 50 single blastomeres of normal control embryos and in five blastomeres of one male embryo of the DMD carrier obtained after a first preimplantation diagnosis (PID) for gender determination. In ten blastomeres of another two male embryos of the DMD carrier, no PCR signals were observed, probably as a result of the deletion. After intracytoplasmic sperm injection, embryos were analysed for exon 17 and three of the four embryos showing normal PCR signals were replaced, resulting in a singleton pregnancy. Prenatal diagnosis showed a female karyotype and DNA analysis indicated that the fetus was not a DMD carrier.
Evaluation of maternal serum dimeric inhibin a as a first‐trimester marker of down's syndrome
Authors: Wallace E. M. , Grant V. E. , Swanston I. A. , Groome N. P. 
Published: March 2007

AbstractWhile second‐trimester prenatal screening programmes for Down's syndrome have become established in prenatal care, it would be advantageous to be able to offer screening in earlier preganancy. To this end, we have evaluated a new potential maternal serum marker, dimeric inhibin A, as a possible first‐trimester marker. Dimeric inhibin A was measured in propsectively collected maternal serum from 23 cases of Down's syndrome and matched chromosomally normal controls, at 11–13 weeks' gestation. Levels of this protein were significantly elevated in the Down's pregnancies compared with the control pregnancies. The median multiple of the normal median (MOM) for the Down's samples was 2.46 (95 per cent confidence interval: 2.11–3.26, P<0.0001 vs. controls). These results suggest that dimeric inhibin A is a useful discriminator of Down's‐affected pregnancies from normal pregnancies in the first trimester and that sensitive screening in combination with maternal age and other possible markers may be practicable in the first trimester.
Sonographic depiction of fetal tooth germs
Authors: Ulm M. R. , Chalubinski K. , Ulm C. , Plöckinger B. , Deutinger J. , Bernaschek G. 
Published: March 2007

AbstractRecently, sonography of the fetal face has gained increasing importance in prenatal diagnosis. It is not yet clear whether sonographic depiction of fetal tooth germs would have an influence on the prenatal diagnosis of ectodermal dysplasia syndromes. During routine malformation screening, horizontal sections of fetal jaws were visualized and examined for tooth germs in 124 pregnant women following sonographic ‘facing’. Histological jaw sections of fetuses that had died in utero at various gestational ages were produced in order to examine the degree of correspondence between the sonographic and histological findings. At least four tooth germs were found in the jaws of all fetuses between 19 and 34 gestational weeks (n=104). Although jaw visualization was possible between 14 and 18 gestational weeks (n=20), the exact number and location of the tooth germs could not be determined. Assessment of tooth germs may become increasingly important, as aplasia of the tooth germs is one of the principal signs of various hereditary ectodermal diseases.
Three‐dimensional ultrasound in prenatal diagnosis of skeletal dysplasia
Authors: Steiner Horst , Spitzer Dietmar , Weiss‐Wichert Peter H. , Graf Anton H. , Staudach Alf 
Published: March 2007

AbstractA lethal form of bone dysplasia, platylospondylic lethal chondrodysplasia, was diagnosed prenatally using three‐dimensional ultrasound. The various types of three‐dimensional imaging mode provided diagnostic details not available by conventional two‐dimensional ultrasound. The diagnosis was made after referral in the 23rd week of gestation, allowing termination of pregnancy due to the poor prognosis. Prenatal sonograms were compared with postnatal radiographs.
Prenatal diagnosis of cleft lip at 11 menstrual weeks using embryoscopy in the Van der Woude syndrome
Authors: Dommergues M. , Lemerrer M. , Couly G. , Delezoide A. L. , Dumez Y. 
Published: March 2007

AbstractOn the basis of prenatal iden fication of a cleft lip by embryoscopy, a case of van der Woude syndrome was diagnosed at 11 menstrual weeks, allowing for early termination of pregnancy. The potential of embryoscopy to detect minor malformations in early pregancy is discussed from both the technical and the ethical point of view.
The fetal phenotype of partial 2q trisomy
Authors: Siffroi J. P. , Gomes D. Molina , Roume J. 
Published: March 2007

AbstractA 22‐week‐old fetus with partial trisomy 2q (q24.1→qter) and 7q35 monosomy is described. To our knowledge, this represents the greatest unbalanced 2q chromosomal segment published in the literature. The clinical phenotype is in agreement with previous descriptions in children and allows us to propose a fetal phenotype for this chromosomal abnormality.