bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family
Authors: McGrath John A. , McMillan James R. , Dunnill M. Giles S. , Pulkkinen Leena , Christiano Angela M. , Rodeck Charles H. , Eady Robin A. J. , Uitto Jouni 
Published: March 2007

AbstractFetal skin biopsy at 20 weeks' gestation in a woman at risk for a child with the lethal skin‐blistering disorder junctional epidermolysis bullosa (Herlitz) confirmed an affected fetus. Genomic DNA from the aborted fetus was examined for mutations in laminin 5, a macromolecule involved in adhesion at the dermal‐epidermal junction, and a candidate protein in this condition. Polymerase chain reaction (PCR) amplification of exon 10 and parts of the flanking introns of the gene encoding the β3 chain of laminin 5 (LAMB3) and subsequent analysis by agarose gel electrophoresis showed a more slowly migrating band in the affected fetus compared with the normal control. Nucleotide sequencing of the abnormal PCR product revealed a homozygous 77 bp duplication within the exon, resulting in a premature termination codon 250 bp downstream from the 3′ end of the duplication. Maternal DNA was heterozygous for the mutant and wild‐type alleles. These findings illustrate the genetic basis of the skin disease in this case and also offer the prospects of a simple, rapid, and reliable first‐trimester DNA‐based prenatal, or even preimplantation, diagnostic test for future pregnancies in this family.
Prenatal ultrasound diagnosis of amelia
Authors: Rijhsinghani A. , Yankowitz J. , Mazursky Jon , Williamson R. 
Published: March 2007

AbstractAmelia is a very rare form of limb reduction defect. The incidence of isolated amelia with or without other limb reductions is 0.4 per 100 000 births. We report a cluster of three cases diagnosed prenatally. One was isolated tri‐amelia and two were isolated tetra‐amelia.
Short‐rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report
Authors: Meizner Israel , Barnhard Yoni 
Published: March 2007

AbstractThe prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second‐trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21‐year‐old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short‐rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short‐rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non‐lethal anomalies.
DNA‐based prenatal carrier detection for group a xeroderma pigmentosum in a chorionic villus sample
Authors: Matsumoto Naomichi , Saito Nakamichi , Harada Naoki , Tanaka Kiyoji , Niikawa Norio 
Published: March 2007

AbstractDNA‐based prenatal carrier detection of group A xeroderma pigmentosum (XP‐A) is reported. Chorionic villus sampling was done at the tenth gestational week in a pregnant woman whose first child suffers from XP‐A. Genomic DNAs from the villi, proband, and parents were PCR (polymerase chain reaction)‐amplified using three sets of primers, because the PCR and a subsequent enzyme digestion with HphI, AlwNI, or MseI may detect the three most frequent mutations of the XP‐A complementing gene (XPAC) in Japanese XP‐A patients. The results showed that the proband is a homozygote and that the parents and fetus are heterozygotes for a base substitution at the 3′ acceptor site of intron 3 of XPAC, indicating that the fetus is a healthy carrier of XP‐A. This is the first case of prenatal carrier detection of the disorder.
Prenatal diagnosis of congenital diaphragmatic hernia: Timing of visceral herniation and outcome
Authors: Bronshtein Moshe , Lewit Nathan , Sujov Polo O. , Makhoul Imad R. , Blazer Shraga 
Published: March 2007

AbstractUltrasonographic prenatal diagnosis of congenital diaphragmatic hernia is well established, but the correlation of prenatal detection with clinical outcome remains unclear. We report our experience with 15 cases of prenatally diagnosed congenital diaphragmatic hernia. Seven fetuses were detected at 14–16 weeks' gestation; two with a normal sonographic study at 15 and 16 weeks' gestation showed visceral herniation at 21 and 23 weeks, respectively. In the remaining six cases, a diaphragmatic hernia was found at ultrasonography after 24 weeks' gestation, while previous sonographic studies had been normal. All seven fetuses in whom a diaphragmatic hernia was diagnosed before 16 weeks' gestation were aborted; four of them had severe malformations or karyotype abnormalities. The two neonates who were diagnosed at 21 and 23 weeks' gestation died after surgical repair. In contrast, all six infants whose visceral herniation was diagnosed after 24 weeks of gestation, and whose sonographic studies at 15–23 weeks had been normal, are alive and well after corrective surgery. The results of this series suggest that the timing of visceral herniation into the thoracic cavity is a major indicator of the prognosis of these fetuses and that herniation that occurs after 25 weeks of gestation carries a favourable clinical outcome. Normal sonographic studies during the first half of pregnancy do not exclude the subsequent development of congenital diaphragmatic hernia, raising questions about the advisability of repeat examinations at later stages of gestation.
Fetal ductus venosus flow velocity waveforms and maternal serum afp before and after first‐trimester transabdominal chorionic villus sampling
Authors: Brezinka Christoph , Hagenaars Adriana M. , Wladimiroff Juriy W. , Los Frans J. 
Published: March 2007

AbstractDoppler flow velocity waveform recording in the fetal ductus venosus and umbilical artery as well as maternal blood sampling for serum alpha‐fetoprotein (MSAFP) was performed before and after transabdominal chorion villus sampling (TACVS) in 36 women of advanced maternal age (≥ 36 years). Gestational age ranged between 11 and 13 weeks. No chromosomal anomaly was detected. No statistically significant difference was observed in ductus venosus velocity parameters or in the umbilical artery pulsatility index (PI) before and after CVS in 35 women with a normal pregnancy outcome. One case resulted in fetal loss. Post‐CVS median MSAFP levels at 12 weeks (25 kIU/1) and 13 weeks (35 kIU/1) were significantly higher than pre‐CVS levels. In three cases, post‐CVS MSAFP levels were higher than 600 kIU/1, correlating with feto‐maternal transfusions of approximately 1.0–1.4 ml, i.e., of around 40 per cent of feto‐placental blood volume. One of these cases displayed absence of fetal peripheral blood flow velocities and fetal bradycardia following TACVS, resulting in fetal loss 1 week later. The remaining two cases had a normal pregnancy outcome, but showed a more than 50 per cent reduction in ductus venosus velocity after TACVS, whereas umbilical artery PI remained unchanged. However, similar velocity changes were associated with only small feto‐maternal transfusions. Umbilical artery PI values remained unchanged.
Risk‐based prenatal screening for trisomy 18 using alpha‐fetoprotein, unconjugated oestriol and human chorionic gonadotropin
Authors: Palomaki Glenn E. , Haddow James E. , Knight George J. , Wald Nicholas J. , Kennard Anne , Canick Jacob A. , Saller Devereux N. , Blitzer Miriam G. , Dickerman Lois H. , Fisher Rachel , Hansmann Dagmar , Hansmann Manfred , Luthy David A. , Summers Anne M. , Wyatt Philip 
Published: March 2007

AbstractNine centres collaborated to examine the feasibility of a screening method for trisomy 18 that was based on assigning individual risk, using a combination of maternal age and measurements of alpha‐fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG). Second‐trimester measurements of these analytes were obtained from 94 trisomy 18 pregnancies. In the 89 pregnancies without an associated open defect, the median levels for AFP, uE3, and hCG were 0.65, 0.43 and 0.36 multiples of the unaffected population median, respectively. The strongest individual predictor of risk for trisomy 18 was uE3, followed by hCG, AFP, and maternal age, in that order. Using a method of individual risk estimation that is based on the three markers and maternal age, 60 per cent of pregnancies associated with trisomy 18 would be detected at a risk cut‐off level of 1:100, with a false‐positive rate of about 0.2 per cent. One in nine pregnancies identified as being at increased risk for trisomy 18 would be expected to have an affected pregnancy. This risk‐based screening method is more efficient than an existing method that is based on fixed analyte cut‐off levels. Even though the birth prevalence of trisomy 18 is low, prenatal screening can be justified when performed in conjunction with Down syndrome screening and when a high proportion of women offered amniocentesis have an affected fetus.
The effect of thermal instability of intact human chorionic gonadotropin (ihcg) on the application of its free β‐subunit (free βhcg) as a serum marker in down syndrome screening
Authors: Sancken U. , Bahner D. 
Published: March 2007

AbstractThe kinetics of free βhCG concentrations were measured in 30 maternal whole blood samples from second‐trimester pregnancies during 72 h incubation at 3, 20, and 30°C. Dissociation of intact hCG (ihCG) was undetectable at 3°C and produced a more than 20 per cent increase of free βhCG at 20°C and a more than 100 per cent increase at 30°C. hCG dissociation at 30°C was not reduced by a protease inhibitor (sodium iodoacetate) and also occurred in purified hCG dissolved in a protease‐free incubation medium. These results were reproduced under conditions of sample transport by post at different environmental temperatures. In conclusion, reliable free βhCG assessment requires that the specimen be kept cool from vene puncture until assay or completely other transport strategies have to be considered. Evaluation of free βhCG as an effective marker in prenatal Down syndrome screening must be reconsidered from this aspect.
Prenatal ultrasonographic diagnosis of congenital megalourethra
Authors: Wu Meng‐Hsing , Wu Rong‐Chang , Kuo Pao‐Lin , Huang Ko‐En 
Published: March 2007

AbstractCongenital megalourethra is a rare genital anomaly characterized by dilatation of the penile urethra without evidence of distal obstruction. Reports of the prenatal diagnosis of this condition in the literature are limited. We present a case of congenital megalourethra with obstructive uropathy from the posterior urethra diagnosed prenatally at 18 weeks of gestation. ‘Prune‐belly’‐like features, colonic malrotation, and imperforate anus were also found on autopsy.
A case of paternal uniparental disomy for chromosome 11
Authors: Webb A. , Beard J. , Wright C. , Robson S. , Wolstenholme J. , Goodship J. 
Published: March 2007

AbstractWe report a case of paternal uniparental disomy for chromosome 11 that presented as severe intrauterine growth retardation. Autopsy following intrauterine death also revealed aberrant intestinal rotation and hypospadias. Chromosome analysis of direct preparations from placental biopsy showed an abnormal 47,XY,+11 karyotype. Analysis of long‐term cultures from the placenta revealed 46,XY/47,XY,+11 mosaicism. Fluorescence in situ hybridization (FISH) studies on interphase nuclei confirmed trisomy 11 in multiple placental sites but detected only disomic cells in fetal skin. Investigation using microsatellite polymorphisms demonstrated paternal isodisomy at loci D11S909, D11S956, and D11S488, and paternal heterodisomy at locus D11S928.
Early prenatal diagnosis of ventricular diverticulum complicated by serous pericardial effusion
Authors: Carles D. , Maugey‐Laulom B. , Habboud H. , Alberti E. M. , Weichhold W. , Léger F. 
Published: March 2007

AbstractAn unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post‐mortem examination did not show additional malformation. Cardiac diverticulum is a rare malformation that occurs as an isolated defect or as part of a complex midline thoraco‐abdominal defect. Only two prenatally diagnosed cases have been previously reported in the literature and none with associated hydropericardium.
Evaluation of routine prenatal diagnosis by a registry of congenital anomalies
Authors: Stoll C. , Dott B. , Alembik Y. , Roth M. P. 
Published: March 2007

AbstractPrenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12, 263–270, 1992), considering the period 1979–1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non‐chromosomal anomalies. In 1991 and 1992, the percentatge of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).
Prenatal diagnostic testing for familial dysautonomia using linked genetic markers
Authors: Oddoux Carole , Reich Elsa , Axelrod Felicia , Blumenfeld Anat , Maayan Channa , Slaugenhaupt Susan , Gusella James , Ostrer Harry 
Published: March 2007

AbstractFamilial dysautonomia (FD), a recessively inherited disease, has been mapped to chromosome 9q31. Highly polymorphic dinucleotide repeat markers flanking the genetic locus and at the same genetic location have been identified. We describe the prenatal diagnosis of FD using linkage and linkage disequilibrium analyses with these markers. Twelve families were analysed for informativeness and of these, seven went on to have prenatal testing (a total of eight fetuses tested). All of these fetuses were predicted to be heterozygous unaffected (FD carriers). Seven fetuses have come to term and are normal. In the absence of a recombinant proband, a panel of three proximal and three distal markers is sufficient to provide informative flanking markers and an 87–96 per cent likelihood of a highly predictive test. In an additional family at 1:4 risk for FD, no DNA was available from the propositus. This family was analysed using linkage disequilibrium to the #18 allele of the tightly linked marker D9S58 in conjunction with linkage analysis using data from two unaffected children. Prenatal diagnosis in this family indicated an affected fetus.
Cross‐hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by fish
Authors: Verlinsky Y. , Ginsberg N. , Chmura M. , Freidine M. , White M. , Strom C. , Kuliev A. 
Published: March 2007

AbstractIn a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow‐up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34‐year‐old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism
Authors: Jones Carrie , Booth Carol , Rita Debra , Jazmines Lydia , Spiro Rhonda , McCulloch Brian , McCaskill Christopher , Shaffer Lisa G. 
Published: March 2007

AbstractWe report a case of maternal uniparental disomy of chromosome 10 discovered after chorionic villus sampling (CVS). Direct preparations revealed mosaic trisomy 10, while cultured CVS cells, as well as amniotic fluid cells, showed only a normal 46,XY complement. DNA analysis using microsatellite markers showed both chromosomes 10 to have been inherited from the mother. The pregnancy was complicated by polyhydramnios. A phenotypically normal male infant of appropriate size was delivered by Caesarean section at 41 weeks' gestation. Since only the direct preparations showed trisomy 10, this case illustrates the importance of CVS direct preparations in the detection of pregnancies at risk of uniparental disomy (UPD). Although the increased frequency of confined placental mosaicism (CPM) diagnosed when direct preparations are performed has been viewed negatively, identification of both CPM and UPD may have biological and clinical significance for a pregnancy. Even though only a single case of maternal disomy 10 is reported here, the apparently normal phenotype provides evidence that there are no major imprinted loci on chromosome 10 that affect in utero growth and development. However, other potential effects such as mental retardation will require long‐term follow‐up of this as well as additional cases.
Non‐immunological hydrops fetalis and intrapericardial teratoma: Case report and review
Authors: Perez‐Aytes Antonio , Sanchis Nuria , Barbal Agnes , Artés Maria Jose , Domene Julio , Chirivella Melitina , Baamonde Andres 
Published: March 2007

AbstractA large intrapericardial teratoma was found at necropsy in a 38−week stillborn fetus, in which prenatal diagnosis of hydrops fetalis and an ehogenic cardiac mass had been made. Clinical and pathological data are reported. In utero intrapericardial teratomata lead to different outcomes depending on whether fetal hydrops is associated. When generalized fetal hydrops is not present, the outcome is good, even in cases with large pericardial effusions. When generalized fetal hydrops occurs, it often results in a poor outcome. In our literature review, we have found eight perinatal deaths in nine similar cases reported.
Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)
Authors: Poulain P. , Odent S. , Maire I. , Milon J. , Proudhon J. F. , Jouan H. , Le Marec B. 
Published: March 2007

AbstractIn a 20‐year‐old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.
Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester
Authors: Wisser J. , Hebisch G. , Froster U. , Zerres K. , Stallmach T. , Leumann E. , Schinzel A. , Huch A. 
Published: March 2007

AbstractAutosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High‐resolution ultrasonography revealed echogenic, normal‐sized kidneys at 15+4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo‐ and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19+4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.
Prenatal diagnosis of ring chromosome 6
Authors: Dawson A. J. , Marles S. L. , Harman C. R. , Phillips S. , Menticoglou S. 
Published: March 2007

AbstractAn amniocentesis was performed on a gravida 1, para 0 23‐year‐old female because of high maternal serum alpha‐fetoprotein and nuchal thickening/cystic mass apparent on the fetal ultrasound. Detailed ultrasound examination revealed multiple anomalies including brain abnormalities. The fetus was found to have a mosaic female karyotype: 45,XX, ‐ 6/46,XX,r(6) (p25q27) (62 per cent:38 per cent). This is the first report of a prenatally diagnosed case of ring chromosome 6.
An investigation of methods for enriching trophoblast from maternal blood
Authors: Johansen Marianne , Knight Marian , Maher Edward J. , Smith Kim , Sargent Ian L. 
Published: March 2007

AbstractTrophoblast deportation is known to occur in normal human pregnancy, but it is not yet clear whether these cells routinely enter the maternal peripheral circulation and are available as a source of fetal DNA for non‐invasive prenatal diagnosis of genetic disorders. To resolve this issue requires an efficient method of enriching trophoblast from maternal blood combined with a means to confirm its identity. Five different techniques were tested on ten retroplacental blood samples to determine the most sensitive and operator‐efficient method. Lysis of red cells alone gave the best recovery of trophoblast but had to be discounted, together with Ficoll density gradient centrifugation, due to the very low purity and the excessive time required. Fluorescence‐activated cell sorting (FACS) of pre‐enriched trophoblast resulted in the lowest recovery rate (8 per cent) despite a 3250‐fold enrichment and a very high purity. Immunomagnetic beads (Dynabeads) coated with anti‐CD 16 antibody proved to be the best method for the subsequent immunocytochemical characterization of deported trophoblast. However, IO beads coated with anti‐CD45 antibody may be more useful for isolating trophoblast for prenatal diagnosis due to the high purity, enrichment (32‐fold), and recovery rate (78 per cent) obtained with this method.