bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of neonatal alloimmune thrombocytopenia using an allele‐specific oligonucleotide probe
Authors: Johnson Jo‐Ann M. , McFarland Janice G. , Blanchette Victor S. , Freedman John , Siegel‐Bartelt Jacqueline 
Published: March 2007

AbstractThe prediction of neonatal alloimmune thrombocytopenia (NAIT) in affected families is usually based on information about gene frequencies of the antigen systems involved, parental phenotyping, and fetal platelet counts. Recently the use of allele‐specific oligonucleotide probe typing for PlA (HPA‐1) antigens has been described to determine the risk of second or subsequent fetuses in families where one infant had the diagnosis of anti‐PlA1 (HPA‐1 a)‐mediated NAIT (McFarland et al, 1991a). This paper describes the first case in which the prenatal diagnosis of P1A (HPA‐1) antigen status was accomplished using this technology on genomic DNA derived from chorionic villus tissue in the first trimester, and presents the implications of these findings for the clinical management of this disorder.
Serum alpha‐fetoprotein and neural tube defects in the first trimester of pregnancy
Authors: Wald Nicholas J. , Hackshaw Allan , Stone Rossana 
Published: March 2007

AbstractAs part of the Medical Research Council randomized trial of vitamin supplementation in the prevention of neural tube defects (NTDs), maternal serum alpha‐fetoprotein (AFP) was available for 19 NTD pregnancies. Each of these was matched with four unaffected controls, by maternal age, participating centre, and duration of sample storage. The samples came from women whose gestational age ranged from 6 to 14 completed weeks. The median AFP level in the affected pregnancies was 1·2 multiples of the median value in unaffected pregnancies of the same gestational age (95 per cent confidence interval (CI) 0·83–1·59). This confirmed the view that serum AFP measurement is of no practical value in the detection of NTDs in the first trimester of pregnancy. The study also showed that folic acid supplementation, used as a method of preventing NTDs, had no effect on the concentrations of maternal serum AFP up to 14 weeks of pregnancy.
Transverse limb reduction defects after chorion villus sampling: A retrospective Cohort study
Authors: Mastroiacovo Pierpaolo , Tozzi Alberto Eugenio , Agosti Silvano , Bocchino Giancarlo , Bovicelli Luciano , Dalprà Leda , Carbone Laura Doria Laba , Lituania Mario , Luttichau Angelica , Mantegazza Franco , Nocera Gianfranco , Pachi Antonio , Passamonti Ubaldo , Piombo Giuseppe , Vasta Anna Franca 
Published: March 2007

AbstractA retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2·9/1000 for CVS performed at 9 weeks' gestation and 1·0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow‐up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained.
Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy
Authors: Cartolano Rosa , Guerneri Silvana , Fogliani Roberto , Galimberti Andrea , Nicolini Umberto 
Published: March 2007

AbstractTrisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42‐year‐old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid.
The association between ‘faint‐positive’ amniotic fluid acetylcholinesterase and fetal malformations
Authors: Sadovsky Yoel , Robbin Michelle L. , Crandall Barbara F. , Filly Roy A. , Golbus Mitchell S. 
Published: March 2007

AbstractThe finding of a ‘faint‐positive’ acetylcholinesterase band in amniotic fluid samples of women at 15 weeks' gestation or above is associated with an increased risk of fetal abnormalities, most commonly gastroschisis. This finding warrants a targeted sonographic evaluation, in order to rule out significant fetal malformations.
Prenatal sonographic assessment of early, rapidly growing fetal cervical teratoma
Authors: Sherer David M. , Woods James R. , Abramowicz Jacques S. , Dipreta John A. , Metlay Leon A. , Jaffe Richard 
Published: March 2007

AbstractAlthough malignant transformation of fetal cervical teratoma is extremely rare, perinatal morbidity is high and usually related to the size of the tumour, which may compromise fetal swallowing and subsequently lead to upper airway obstruction. We present a case in which mid‐trimester serial sonography demonstrated markedly rapid early growth of a lesion of this type between 17 and 19 weeks' gestation indicating the aggressive nature of this tumour, assisting parental decision to terminate the pregnancy. Histopathology confirmed grade 3 immaturity of the lesion.
Abnormal amniotic fluid levels of CA 125 in second‐trimester Down syndrome pregnancies
Authors: Borri Patrizia , Noci Ivo , Biagiotti Roberto , Torricelli Francesca , D'Agata Alberino , Croci Donatella , Branconi Francesco 
Published: March 2007

AbstractThe aim of this study was to evaluate the concentration of CA 125 in second trimester amniotic fluid from Down syndrome pregnancies. CA 125 was measured in stored amniotic fluid samples from pregnancies of 14–19 weeks' gestation with and without Down syndrome fetuses. CA 125 levels were expressed in multiples of the median (MOM) for normal pregnancies of the same gestational age. Twenty‐one pregnancies with Down syndrome fetuses and 63 unaffected controls matched for maternal age, gestational age, and duration of storage were studied. The median MOM values of the affected pregnancies were significantly higher than those of the controls (1·41 MOM versus 0·99 MOM). These findings show that there is an increased concentration of CA 125 in second‐trimester amniotic fluid from Down syndrome pregnancies.
Co‐amplification of the cystic fibrosis ΔF508 mutation with the HLA DQA1 sequence in single cell PCR: Implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis
Authors: Wu R. , Cuppens H. , Buyse I. , Decorte R. , Marynen P. , Gordts S. , Cassiman J. J. 
Published: March 2007

AbstractWe have developed a heminested PCR (polymerase chain reaction) method, performed on single cells, for the analysis of the most common cystic fibrosis (CF) mutation (AF508). As a quality control, the polymorphic exon 2 of the HLA DQA1 locus was co‐amplified from the same cell. With a non‐radioactive reverse dot‐blot assay, the genotype of these two loci could be determined. Experiments on 98 single fibroblasts, heterozygous for the CFTR and the DQA1 locus, showed that amplification of either locus could be obtained in 97 per cent of the cases, but only 90 per cent showed heterozygosity for CF, 75 per cent showed heterozygosity for DQA1, and 74 per cent showed heterozygosity for both CF and DQA1. Contaminations detected only after DQA1 typing occurred in 3 per cent of our samples. Error rate calculations based on our experimental PCR data indicate that single blastomere diagnosis would lead to unacceptable errors, i.e., an affected fetus, in less than 1 per cent of the cases. The risk of undetected crossing‐over or the dubious results that crossing‐over could generate, would make isolated polar body diagnosis at the present time very difficult. The combined approach of PCR on polar bodies followed by confirmation of the diagnosis on blastomeres, however, should give a solid base for preimplantation diagnosis of monogenic disorders.
Prenatal diagnosis of a multifocal lymphangioma
Authors: Giacalone P. L. , Boulot P. , Deschamps F. , Nagy P. , Hedon B. , Laffargue F. , Viala J. L. 
Published: March 2007

AbstractLymphangiomas or cystic hygromas are malformations of the lymphatic vessels and are characterized by single or multiple cysts which have developed within the soft tissues. They occur most commonly in the neck (75 per cent of cases) and are often associated with hydrops or chromosomal abnormalities (Romero et al, 1988). Mediastinal or abdominal locations are rare and represent less than 5 per cent of cases in the literature (Singh et al, 1971). This paper represents the first reported case of prenatal diagnosis of a lymphangioma in the neck, mediastinum, and abdomen. Diagnosis was made before fetal viability, and allowed us to recommend termination of the pregnancy because of the poor prognosis.
Duchenne muscular dystrophy associated with fetal pleural effusion and polyhydramnios
Authors: Vosatka Robert J. , Brown Gina , Moffitt Stephen T. 
Published: March 2007

AbstractA case of fetal pleural effusion in a fetus affected with Duchenne muscular dystrophy (DMD) is reported. This case is discussed in the context of the previous observation of frequent stillbirths among male fetuses in DMD families.
Cytogenetic abnormalities among perinatal deaths demonstrating a single umbilical artery
Authors: Saller Devereux N. , Neiger Ran 
Published: March 2007

AbstractThe presence of a single umbilical artery is associated with fetal congenital malformations and cytogenetic abnormalities. The incidence of chromosomal abnormalities in perinatal deaths complicated by a single umbilical artery is unknown. We studied the proportion of cytogenetic abnormalities associated with a single umbilical artery among perinatal deaths undergoing autopsy. Of 1078 autopsies, 42 (3·9 per cent) were identified with a single umbilical artery. Chromosome analysis was attempted in 21 of the 42 cases (50 per cent). There were 16 successful chromosome analyses, of which three (18·75 per cent) were abnormal. All the chromosomally abnormal fetuses had major congenital malformations. These data suggest that in a perinatal death, the presence of a single umbilical artery does not clinically alter the a priori risk of cytogenetic abnormalities.
Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses
Authors: Slim Rima , Soulié Joelle , Hotmar Jan , Lecolier Bertrand , Bercau Guy , Bernheim Alain 
Published: March 2007

AbstractA case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11·1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.
Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies
Authors: Marquet J. , Chadefaux B. , Bonnefont J. P. , Saudubray J. M. , Zittoun J. 
Published: March 2007

AbstractPrenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay performed several times after birth. In the father, MTHFR activity was normal in lymphocytes and decreased in fibroblasts, whereas in the asymptomatic mother, the activity was not detectable in fibroblasts and was very low in lymphocytes. The absence of any clinical symptoms in the mother despite a clear MTHFR deficiency and hyperhomocystinemia emphasizes the heterogeneity of this disease.
Implications of maternal serum alpha‐fetoprotein elevation caused by transabdominal and transcervical CVS
Authors: Smidt‐Jensen Steen , Philip John , Zachary Julia M. , Fowler Sarah E. , Nørgaard‐Pedersen Bent 
Published: March 2007

AbstractOf 2882 women allocated to either transabdominal CVS (TA) or transcervical CVS (TC) at two large obstetric centres in Denmark, 2707 had blood samples drawn before and 30 min after CVS for maternal serum‐alpha‐fetoprotein (MSAFP) measurement. 2535 of these women had cytogenetically normal pregnancies and 2091 of them went on to have samples drawn at the 18–20 week follow‐up. Post‐procedure MSAFP values were correlated to the biopsy method used, with mean MSAFP values significantly higher after TA than TC, 33 and 15 kU/l, respectively (P<0·001). Following TA procedures, 18 per cent of cases had feto‐maternal transfusion higher than 0·1 ml; this occurred in only 5 per cent of TC cases. MSAFP levels were associated with spontaneous fetal loss in the TA group but not in the TC group. TC, however, was followed by more losses than TA. The post‐CVS MSAFP value was positively correlated with the amount of villi aspirated. The difference in post‐procedure elevation in MSAFP 30 min later (average 18 kU/l higher for TA than for TC) was not reflected in raised levels at the 18–20 week follow‐up. Study medians at mid‐trimester did not differ from reference group medians established from a group of singleton pregnancies with sonographically determined gestational age who did not experience invasive procedures and delivered normal infants. Our findings suggest that CVS does not compromise mid‐trimester MSAFP for screening for neural tube defects (NTDs). Extremely high mid‐trimester MSAFP values in the TC group could predict imminent loss.
First‐trimester prenatal diagnosis in twin pregnancies
Authors: Christiaens G. C. M. L. , Oosterwijk J. C. , Stigter R. H. , Deutz‐Terlouw P. P. , Kneppers A. L. J. , Bakker E. 
Published: March 2007

AbstractTwo twin pregnancies at risk for a sex‐linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second‐trimester amniocentesis confirmed the error. Selective feticide of the affected fetus was performed. When first‐trimester prenatal diagnosis is offered in dichorionic twin pregnancies, confirmation through molecular genetic testing can confirm that villi have been obtained from different fetuses. All parties must be aware that additional invasive diagnostic procedures in the second trimester may be required in cases of doubt.
Hereditary multiple intestinal atresia—ultrasound findings and outcome of pregnancy in an affected case
Authors: Boyd P. A. , Chamberlain P. , Gould S. , Ives N. K. , Manning N. , Tsang T. 
Published: March 2007

AbstractA case of multiple intestinal atresia is described. Dilatation of the bowel was observed at 17 weeks' gestation during routine ultrasound scan of a healthy Caucasian primigravida from a non‐consanguineous marriage. Amniocentesis was performed. The karyotype was normal male and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy and a simple bowel obstruction was suspected. The baby was delivered at 37 weeks' gestation in good condition. Initial clinical examination was normal but abdominal distension developed during the first day. At laparotomy, prepyloric septal atresia, a distal duodenal membrane, and multiple intestinal atresia were found. The baby died aged 4 days. Post‐mortem examination of the abdomen confirmed the absence of lumen from long segments of the small intestine together with areas of colonic atresia. Histology and distribution were consistent with those reported in familial multiple intestinal atresia. The pitfalls in the interpretation of prenatal ultrasound scans and the possibility of prenatal diagnosis in future pregnancies are discussed.
Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescencein situhybridization
Authors: Cacheux V. , Tachdjian G. , Druart L. , Oury J. F. , Sérero S. , Blot P. , Nessmann C. 
Published: March 2007

AbstractThe major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescencein situhybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with, X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.
Maternal serum free beta hCG screening: Results of studies including 480 cases of down syndrome
Authors: Macri James N. , Spencer Kevin , Garver Kenneth , Buchanan Philip D. , Say Burhan , Carpenter Nancy J. , Muller Francoise , Boué Andre 
Published: March 2007

AbstractThe median maternal serum free beta human chorionic gonadotropin (hCG) multiple of the median (MOM) of 480 Down syndrome cases in the second trimester was 2·64, significantly greater than the reported median MOM of intact hCG (p<0·0001). In 234 of these cases from retrospective and prospective studies, the effectiveness of maternal serum free beta hCG was evaluated in combination with alpha‐fetoprotein (AFP) and maternal age in second‐trimester Down syndrome screening. Down syndrome detection in the gestational age range of 14–16 weeks was 82 per cent. In all gestational weeks (14–22), a 77·7 per cent Down syndrome detection rate was achieved. In prospective screening of 44 272 patients under the age of 35 years, 69 per cent of Down syndrome cases were detected (73 per cent in gestational weeks 14–16). The false‐positive rate for the prospective study was 3·8 per cent. The use of free beta hCG combined with maternal serum AFP and maternal age‐related risk for Down syndrome in a screening population (i.e., women under 35 years) yields an improved detection efficiency over other protocols.
Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families
Authors: Kruyer Helena , Miranda Merce , Volpini Victor , Estivill Xavier 
Published: March 2007

AbstractDuchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at‐risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45·5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non‐paternity.
Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination
Authors: Jørgensen Finn Stener , Bang Jens , Tranebjærg Lisbeth , Berge Lillian N. , Eik‐Nes Sturla H. , Schwartz Marianne 
Published: March 2007

AbstractWe present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11–12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2½ months. The parents were both known to be carriers of the ΔF508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the ΔF508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre‐eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.
Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a University Centre
Authors: Palo Pertti , Piiroinen Olli , Honkonen Erkki , Lakkala Taina , Aula Pertti 
Published: March 2007

AbstractThe fetal loss rates and fetal congenital birth defects in 821 transabdominal (TA) chorionic villus sampling (CVS) and 771 amniocentesis (AC) cases were evaluated from a 5‐year period (1987–1991) at the University Central Hospital of Turku. The parents were given the option of choosing between the two sampling procedures. CVS was performed, in most cases, at 11 weeks of gestation; and AC, at 15 weeks. The rate of total post‐procedure loss was 6·7 per cent in the CVS group and 4·4 per cent in the AC group (p=0·08). The rate of spontaneous abortions was 1·9 per cent in the CVS group and 1·0 per cent in the AC group (p=0·10). The number of birth defects was low in both study groups. No limb reduction cases were observed. Mosaicism was noted in 14 CVS cases and in five AC cases. We conclude that TA‐CVS is a safe and practical alternative to AC in prenatal fetal karyotyping.
Tibial hemimelia syndrome: Prenatal diagnosis by real‐time ultrasound
Authors: Ramirez Mildred , Hecht Jacqueline T. , Taylor Suzanne , Wilkins Isabelle 
Published: March 2007

AbstractThe tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We recently diagnosed this condition in a pregnancy at 16·5 weeks' gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally.
A fetus with a parvovirus B19 infection and congenital anomalies
Authors: Tiessen R. G. , van Elsacker‐Niele A. M. W. , Vermeij‐Keers Chr. , Oepkes D. , van Roosmalen J. , Gorsira M. C. B. 
Published: March 2007

AbstractA fetus with multiple structural defects was seen at prenatal ultrasound examination. After termination of the pregnancy a bilateral cleft lip, alveolus, and palate; micrognathia; and webbed joints were seen. Fetal tissues showed indications of infection, intranuclear inclusion bodies, chronic stress, haemolysis, arterial wall damage, and profuse haemorrhage. Parvovirus B19 DNA was detected in fetal tissues by dot hybridization after polymerase chain reaction. The possibility of parvovirus B19 infection leading to congenital malformations is discussed.