bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sanfilippo D syndrome: Correction of glucosamine‐6‐sulphatase deficiency following fibroblast culture in chang's media
Authors: Freeman Craig , Hopwood John J. 
Published: March 2007

AbstractThe de‐O‐sulphation of α‐linked glucosamine‐6‐sulphate residues in heparan sulphate requires a specific sulphatase, glucosamine‐6‐sulphatase, which has been shown to be deficient in tissues of Sanfilippo D, or mucopolysaccharidosis type IIID (MPS IIID), patients. MPS IIID fibroblasts cultured in Basal Eagle's medium supplemented with either fetal calf serum or heat‐inactivated fetal calf serum, MDCB or Ultraserg media had residual glucosarnine‐6‐sulphatase activities towards a heparin‐derived trisaccharide substrate, O‐(α‐N‐acetylglucosamine‐6‐sulphate)‐(1→4)‐L‐O‐(α‐iduronic acid‐2‐sulphate)‐(1→4)‐D‐O‐2,5‐anhydro [1‐3H]mannitol‐6‐sulphate, GlcNAc6S‐IdoA2S‐anM6S, which were less than 1 per cent of the normal range for fibroblasts cultured in Basal Eagle's medium supplemented with fetal calf serum. However, the glucosamine‐6‐sulphatase activities of MPS IIID fibroblasts grown in Chang's medium were similar to the activities in normal control fibroblasts which were cultured in Basal Eagle's medium. These results indicate that caution is required for prenatal diagnosis of MPS IIID patients using chorionic villi or amniotic cells cultured in Chang's medium.
In utero sonographic diagnosis of diaphragmatic hernia with hepatic protrusion into the pericardium mimicking an intrapericardial tumour
Authors: Aré Evelyne , Fouron Jean‐Claude , Lessard Manon , Boisvert Jacques , Grignon Andrée , Van Doesburg Nicolaas H. 
Published: March 2007

AbstractA case of right‐sided congenital diaphragmatic hernia was detected at 33 weeks of gestation. Fetal echocardiography revealed the presence of an intrapericardial mass (3.5 × 3 cm) localized at the right of the heart and surrounded by a massive pericardial effusion. This mass had the same echogenicity as the liver, with which it shared vascular channels. The diagnosis of right diaphragmatic hernia with protrusion of hepatic tissue into the pericardial sac and secondary pericardial effusion was made and confirmed after birth. In utero diagnosis of this anomaly enabled correct assessment of perinatal risk, and optimal fetal and infant management.
First‐trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples
Authors: Muller F. , Ouryß J. F. , Bussière P. , Lewin F. , Boué Joëlle 
Published: March 2007

AbstractPrenatal diagnosis of hypophosphatasia was made by alkaline phosphatase (ALP) assay on a chorionic villous sample taken in the first trimester. Very low activities of the LBK isoenzyrnes indicated an affected fetus. Diagnosis was confirmed at 12 weeks of gestation by measurement of LBK isoenzyme activities in fetal bone tissue. In control chorionic villous samples an inverse relation was observed between LBK and placental ALP percentage during gestational age. High LBK ALP activities are observed in decidual tissue. Chorionic villous tissue must not be sampled after 12 weeks of gestation and decidual tissue must be excluded from the sample.
First‐trimester diagnosis of hunter syndrome: Very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus
Authors: Cooper A. , Thornley M. , Wraith J. E. 
Published: March 2007

AbstractIduronate sulphatase activity was determined in uncultured chorionic villi from four fetuses at risk for Hunter syndrome. AH fetuses were shown to be female by chromosome analysis. Biopsy material from three fetuses showed iduronate sulphatase activity within normal limits whilst the fourth fetus showed activity reduced to 7 per cent of our control mean. The importance of fetal sexing in prenatal diagnosis of this condition is emphasized as female carrier fetuses may show iduronate sulphatase activity reduced to levels observed in affected males.
First‐trimester prenatal diagnosis in quintuplets: A practical approach using step‐by‐step embryo reduction
Authors: Dumez Y. , Dommergues M. , Lyonnet S. , Tada K. , Kaplan J. , Mandelbrot L. 
Published: March 2007

AbstractA multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first‐trimester chorionic villus sampling in a quintuplet pregnancy at risk for non‐ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.
Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism
Authors: Kalousek D. K. , Howard‐Peebles P. N. , Olson S. B. , Barrett I. J. , Dorfmann A. , Black S. H. , Schulman J. D. , Wilson R. D. 
Published: March 2007

AbstractAbout 2 per cent of specimens from chorionic villus sampling (CVS) analysed either on direct preparation of cytotrophoblast cells or afterculture of mesenchymal stroma reveal confined placental mosaicism (CPM), most commonly involving chromosomal trisomy. A significantly higher rate of prenatal loss (22 per cent) as well as the presence of intrauterine growth retardation (IUGR) has been reported among pregnancies with CPM. To evaluate more precisely the effect of these aneuploid cell lines confined to the placenta on intrauterine fetal growth and fetal survival, we have studied 34 term placentae from pregnancies with CPM diagnosed on CVS and confirmed identical mosaicism in 17 of these placentae. There was a direct correlation between a high number of aneuploid cells present at CVS and a high likelihood of their detection in term placenta. Also, the proportion of aneuploid cells in the mosaic term placentae correlated with that observed in CVS specimens. Among 17 gestations with confirmed CPM at delivery, there were six cases of IUGR identified, five in liveborns and one associated with intrauterine death.
First‐trimester aneuploidy screening using serum human chorionic gonadotropin (hCG), free ahCG, and progesterone
Authors: Kratzer Paul G. , Golbus Mitchell S. , Monroe Scott E. , Finkelstein David E. , Taylor Robert N. 
Published: March 2007

AbstractImmunochemical serum assays for human chorionic gonadotropin (hCG), the free ohCG subunit, and progesterone (P) were considered separately and in combination for their ability to screen for chromosomally abnormal pregnancies in the first trimester. Maternal serum was collected from 141 women undergoing chorionic villus sampling at 9–12 menstrual weeks. Trisomy 21 pregnancies had significantly higher hCG levels, while trisomy 18 and 13 pregnancies had markedly lower hCG and progesterone levels than those of chromosomally normal pregnancies. However, the discrimination of normal from aneuploid pregnancies was poor with either hCG alone, progesterone alone, or free ahCG alone. Much improved discrimination was obtained by combining hCG, free ahCG, and P into an aneuploidy index [(P/hCG)(free ahCG/hCG)]. This index distinguished 9 out of 17 (53 per cent) of the trisomy 21 pregnancies, while only misidentifying 5 out of 112 (4.5 per cent) of the normal pregnancies. The aneuploidy index thus appears promising as a first‐trimester biochemical screen for aneuploid pregnancies.
First‐trimester genetic diagnosis in multiple pregnancy: Principles and potential pitfalls
Authors: Brambati Bruno , Tului Lucia , Lanzani Alessandro , Simoni Giuseppe , Travi Maurizio 
Published: March 2007

AbstractBoth the principles of first‐trimester genetic diagnosis in multiple pregnancy and the special considerations required to avoid potential diagnostic pitfalls are presented. The experience consisted of 65 cases of twins and one case of quadruplets. Dichorionic twins were recognized by sonography in 54 cases. Transabdominal aspiration was generally preferred to trans‐cervical for obtaining chorionic tissue, although in two cases both approaches were used. Diagnostic error following erroneous sampling was reported in 3 out of 54 sets of dichorionic twins (5.5 per cent). When like‐sex dichorionic twins cannot be differentiated by cytogenetic or DNA polymorphism studies, amniocentesis should be recommended to confirm the reliability of the result on chorionic tissue.
An approach to preimplantation diagnosis of β‐thalassaemia
Authors: Varawalla N. Y. , Dokras A. , Old J. M. , Sargent I. L. , Barlow D. H. 
Published: March 2007

AbstractUsing the polymerase chain reaction (PCR), it was possible to amplify a single copy fragment of the β‐globin gene from 2–32 human embryonic cells obtained from arrested preimplantation embryos. For the detection of β‐thalassaemia mutations, allele specific priming of the PCR using nested primers was employed using approximately 10 pg of DN A from individuals known to carry these mutations. This approach was successful in detecting the presence or absence of five Asian Indian β‐thalassaemia mutations that were selected for this study. In spite of meticulous precautions against contamination, false‐positive amplification was observed, a problem that will have to be overcome before this approach can be used in clinical practice.
Intraplacental sonolucent spaces: Incidences and relevance to chorionic villus sampling
Authors: Liu David T. Y. , Agbaje Remi , Preston Christine , Savage Julie 
Published: March 2007

AbstractDetailed ultrasound examination of the placentae from 293 consecutive women requesting first‐trimester chorionic villus sampling (CVS) showed evidence of intraplacental sonolucent spaces with varying density in 42.3 per cent of these placentae. Their presence, however, did not complicate the subsequent course of these women's pregnancies. Their prime significance relates to CVS, where inadvertent entry into these areas can lead to bleeding and contamination of the villus specimens with blood. A search for these spaces should be made before sampling, and when present, they should be avoided wherever possible.
Recurrent congenital chylothorax
Authors: King P. A. , Ghosh A. , Tang Mary H. Y. , Lam S. K. 
Published: March 2007

AbstractCongenital chylothorax is an uncommon but well‐described condition. Recurrent congenital chylothorax is extremely rare. Yancy and Spock (1967) reviewed 31 reported cases of spontaneous chylothorax which occurred in the first 2 months of life and noted that male infants were affected twice as commonly as females. Two other cases of recurrent congenital chylothorax in male offspring (Defoort and Thiery, 1978; Reece et al., 1987) led to the suggestion of possible X‐linked recessive inheritance. We describe a case of recurrent congenital chylothorax in which two consecutive female infants in a sibship were affected. The underlying cause of this disorder remains unknown. Inheritance as an X‐linked recessive is not possible and this case is suggestive of autosomal recessive inheritance. The case also serves to emphasize the need for caution in counselling for recurrence risks when the underlying aetiology of the disorder is unknown.
False‐negative prenatal exclusion of Wiskott‐Aldrich syndrome by measurement of fetal platelet count and size
Authors: Lorenz Peter , Bollmann Rainer , Hinkel Georg Klaus , Mächler Marco , Siegert Gabriele , Stamminger Gudrun , Wendisch Jörg , Ziemer Sabine 
Published: March 2007

AbstractThe study of the fetal platelet count and size can, according to the literature, be used for the prenatal diagnosis of the Wiskott‐Aldrich syndrome (WAS). So far, no affected fetuses have been identified by this method. All pregnancies in which this method had been applied to resulted, as correctly predicted, in the birth of normal children. Here we report on a familial case of WAS where the haematological parameters failed to reveal the affected second child. Hence we assume that the platelet count and size of platelets remain normal in fetuses with WAS to the gestational age of 22 weeks and cannot be used for prenatal diagnosis.
Clinical and pathological factors in spontaneous abortion following chorionic villus sampling
Authors: McCormack M. J. , MacKenzie W. E. , Rushton D. I. , Newton R. 
Published: March 2007

AbstractTwenty‐nine cases of spontaneous abortion following first‐trimester chorionic villus sampling (CVS) were reviewed out of a series of 722 patients. Of the 29 cases, there were only four abnormal CVS results. Pathological examination was performed in 79 per cent of cases, and this did not identify any characteristic pathological feature associated with spontaneous abortion after CVS. There was no obvious difference in the pathological features following the transabdominal (TA) or the transcervical (TC) methods. The majority of miscarriages occurred within 4 weeks of the procedure, but 38 per cent of cases aborted between 7 and 14 weeks after CVS. The TC method was used in 22 patients; the TA in 6; and both methods in 1 patient. The TA method was associated with a significantly lower fetal loss rate than the TC method (TA 2 per cent, TC 9 per cent, p < 0.001).
Estimating the risk of a fetal autosomal trisomy at mid‐trimester using maternal serum alpha fetoprotein and age: A retrospective study of 142 pregnancies
Authors: Zeitune M. , Aitken D. A. , Crossley J. A. , Yates J. R. W. , Cooke A. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractRisks appropriate for mid‐trimester prenatal screening for autosomal trisomies have been estimated from a combination of maternal age and maternal serum (MS) alpha‐fetoprotein (AFP) levels at 16–20 weeks gestation. Published data on the frequency of Down's syndrome births relative to maternal age were modified to include the additional age‐related frequency of trisomy 18 and trisomy 13 cases to provide an overall risk for an autosomal trisomy at midtrimester. MSAFP results from a retrospective study of 142 affected (114 trisomy 21, 19 trisomy 18, and 9 trisomy 13)and 113 000 unaffected pregnancies were converted to multiples of the appropriate gestational median (MOM). The AFP levels in the autosomal trisomy pregnancies were found to be significantly reduced at 0.72 MOM of the unaffected pregnancies. Risks (likelihood ratios) were derived from the overlapping log Gaussian distributions for affected and unaffected pregnancies and combined with maternal age risks to give the overall odds of an affected pregnancy.A mid‐trimester cut‐off risk of 1:280 gave an estimated 37 per cent detection rate for autosomal trisomies in the west of Scotland population for a follow‐up (false‐positive) rate of 6.6 per cent. These figures compare with a 30 per cent detection and 6.7 per cent false‐positive rate if age 35 years and over is used as the sole criterion for selection of at‐risk pregnancies.
Prenatal diagnosis of PIBIDS
Authors: Savary J. B. , Vasseur F. , Vinatier D. , Manouvrier S. , Thomas P. , Deminatti M. M. 
Published: March 2007

AbstractIn a well‐documented PIBIDS family, two investigations of DNA excision repair showed a severe defect in lymphocytes from the index case (residual repair activities were 10.6–12.1 per cent). The values for the mother, father, and sister were within the normal range when compared with a healthy control. In the pregnant mother, a prenatal diagnosis of PIBIDS was made by measuring UV‐induced unscheduled DNA synthesis in cultivated amniotic fluid cells. Results ranged between 12.5 and 26.1 per cent depending on the UV doses applied and were consistent with an affected fetus. The parents opted for a termination of pregnancy. Following a therapeutic abortion, fetal skin fibroblasts were tested and showed a severe DNA excision‐repair defect of 9.2–13.5 per cent of residual activity.
Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)
Authors: Rotmensch Siegfried , Liberati Marco , Luo Jia‐Sen , Tallin Giovanni , Mahoney Maurice J. , Hobbins John C. 
Published: March 2007

AbstractMany authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19‐week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.
A case of mosaicism involving an unstable 13/14 Robertsonian translocation
Authors: Wells Sue , Gregson Nina , Porter R. J. 
Published: March 2007

AbstractPrenatal diagnosis of mosaicism involving an apparently unstable 13/14 Robertsonian trans‐location is reported. This illustrates the difficulties encountered in counselling when mosaicism is ascertained prenatally. Other reported examples of apparently unstable Robertsonian translocations are discussed.
Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks' gestation
Authors: Di Trapani F. , Marino M. , D'Alcamo E. , Abate I. , D'Agostino S. , Lauricella S. , Musicò M. , Orlandi F. , Sammarco P. , Maggio A. , Modell B. 
Published: March 2007

AbstractPrenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first‐trimester prenatal diagnosis possible. However, these procedures need previous studies of at‐risk couples, which can be very time‐consuming when a number of different β‐thalassaemia mutations occur in the region. We describe the possibility of making a first‐trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p>0.05) between β/γ values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis.
A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature review
Authors: van Oppen A. C. C. , Breslau‐Siderius E. J. , Stoutenbeek Ph. , Gunne A. J. Pull Ter , Merkus J. M. W. M. 
Published: March 2007

AbstractTuberous sclerosis is a single gene autosomal‐dominant disorder, characterized by multiple hamartoma formation. It shows a wide variability of expression. Prenatal diagnosis by means of a DNA or biochemical marker is not yet possible. Ultrasound offers the only way to detect possible antenatal hamartoma formation, which is most commonly found in the central nervous system, the renal system, and the heart. We report a case of fetal involvement that appears unique because of the unusual location of a tumour in the neck of the fetus.
Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: An analysis of 117 cases with review of the literature
Authors: Gagnon Sylvie , Fraser William , Fouquette Bertrand , Bastide Adrien , Bureau Marc , Fontaine Jean‐Yves , Huot Céline 
Published: March 2007

AbstractDuring a 7‐year period, 117 fetal karyotypes were available from 131 genetic amniocenteses. These procedures were performed between 14 and 37 weeks' gestation for the following abnormal ultrasound findings: (1) intrauterine growth retardation (IUGR)—61 cases; (2) fetal malformation—71 cases; and (3) amniotic fluid volume (AFV) abnormality—60 cases. Chromosomal abnormalities were identified in 19 cases (16.2 per cent). Aneuploidy was 2.5 times as frequent in the presence of malformations than in their absence. No correlation was demonstrated between specific fetal malformations and specific chromosomal abnormalities. Aneuploidy was also twice as frequent in the presence of symmetrical IUGR than in its absence. No chromosomal abnormalities were found among eight cases of asymmetrical IUGR. Four cases of aneuploidy presented with isolated IUGR, three of these involving the X chromosome. The frequency of aneuploidy was the same with or without abnormalities of AFV (14.3 versus 16.4 per cent). No chromosomal abnormality was found associated with isolated AFV abnormalities.
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion
Authors: Bick David P. , Schorderet Daniel F. , Price Paul A. , Campbell Leslie , Huff Robert W. , Shapiro Larry J. , Moore Charleen M. 
Published: March 2007

AbstractWe report the prenatal diagnosis of a male fetus with X‐linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X‐linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.
An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis
Authors: Sherer David M. , Wang Nancy , Thompson Howard O. , Peterson Jeanne C. , Miller Marvin E. , Metlay Leon A. , Abramowicz Jacques S. 
Published: March 2007

AbstractWe present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9, t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.
Origin of raised maternal serum alpha‐fetoprotein levels in second‐trimester oligohydramnios
Authors: Los F. J. , Beekhuis J. R. , Marrink J. , Hagenaars A. M. , Reuss A. , Sachs E. S. , Jahoda M. G. J. , Wladimiroff J. W. 
Published: March 2007

AbstractConcanavalin A (Con A) subtyping of alpha‐fetoprotein (AFP) revealed higher concentrations of AFP non‐reactive with Con A in sera of 12 pregnant women with second‐trimester oligohydramnios and raised total serum AFP levels than in sera of 42 pregnant women with raised total serum AFP levels and a normal amniotic fluid volume. This suggests that in oligohydramnios the origin of excess AFP in the maternal compartment is amniotic fluid. It is proposed that oligohydramnios and the associated raised maternal serum AFP levels are caused by damage of the fetal membranes prior to 16 weeks of gestation resulting in leakage of amniotic fluid to the decidual tissue and resorption in the maternal circulation.