bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cytogenetic studies of amniotic fluid taken before the 15th week of pregnancy for earlier prenatal diagnosis: A report of 114 consecutive cases
Authors: Rebello M. T. , Gray C. T. H. , Rooney D. E. , Smith J. H. , Hackett G. A. , Loeffler F. E. , Horwell D. H. , Beard R. W. , Coleman D. V. 
Published: March 2007

AbstractOne hundred and fourteen samples of amniotic fluid taken before 15 weeks of gestation were cultured for cytogenetic studies. The results of culturing these early amniotic fluid (EAF) samples were compared with the results of culturing 114 standard amniotic fluid (SAP) samples taken after 15 weeks of gestation matched for maternal age and received in the laboratory within the same week.Cell culture was successful in all 114 of the EAF samples and in 111 SAP samples. There was no significant difference in the days to harvesting and days to reporting in the two groups. Three samples of SAP failed to grow and two EAF samples produced tetraploid karyotypes, so that in these five cases amniocentesis had to be repeated. These problems were attributed to toxicity of a fungicide used in the culture medium. Pseudomosaicism was noted in two EAF samples and one SAP sample; and maternal cell contamination was noted in one EAF and one SAP sample.Thus, culturing and karyotyping cells harvested from EAF and SAP are similar, indicating that EAF samples from 12–14‐week pregnancies could be used for prenatal diagnosis.
Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease
Authors: Rebello M. T. , Hackett G. , Smith J. , Loeffler F. E. , Robson S. , Maclachlan N. , Beard R. W. , Rodeck C. H. , Williamson R. , Coleman D. V. , Williams C. 
Published: March 2007

AbstractTen‐ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR).Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo‐nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta‐F508 deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls.In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta‐F508 primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify.The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.
The impact of supportive intervention after second trimester termination of pregnancy for fetal abnormality
Authors: Elder S. H. , Laurence K. M. 
Published: March 2007

AbstractThe reactions of women who had had a termination of pregnancy for fetal abnormality in the second trimester have been studied retrospectively using a semi‐structured questionnaire. The severity of the grief reaction was measured and the outcome at 6months was compared with the findings from a previous study in South Wales which had led to the introduction of skilled support from genetic fieldworkers and formal genetic counselling after the termination. Of the 69 women interviewed, 55 (80 per cent) experienced an acute grief reaction and 17 (25 per cent) had not resolved their grief 6 months after the termination, compared with 37 (77 per cent) and 22 (46 per cent) out of 48 respectively in the previous study. Fifty‐seven (83 percent) women had found the fieldworker's intervention useful or very useful, some describing her support as essential. An association between poor resolution of the grief reaction with increasing maternal age and with poor perceived support from partners was noted. Improved follow‐up support and counselling have lessened the adverse emotional consequences and support should therefore be offered to all women undergoing termination for fetal malformation.
Chorionic villus sampling for fetal karyotyping in missed abortions
Authors: Appleman Z. , Rosensaft J. , Elchalal U. , Caspi B. , Chemke J. 
Published: March 2007

AbstractChorionic villus sampling (CVS) was performed in 12 pregnant women (9–25 gestational weeks) with ultrasonographic evidence of missed abortion. An ultrasonographically guided transabdominal (eight cases) or transcervical (four cases) approach was used. Fetal karyo‐typing was successful in all cases; in five, chromosomal aberrations were found and in seven, chromosome analyses revealed normal karyotypes. Tissue culture for fetal karyotyping was successful in only 72.5 per cent of 40 live pregnancies which were electively interrupted because of abnormal ultrasonographic findings or an abnormal fetal karyotype, and in 57 per cent of seven missed abortions. CVS is suggested as a feasible and effective method for fetal karyotyping in missed abortions and it seems to be superior to post‐abortion tissue culture.
Identification of duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Msp1 polymorphisms
Authors: Laing N. G. , Walker A. P. , Akkari P. A. , Chandler D. C. , Layton M. G. , Mears M. E. , Yamada T. , Bartlett R. J. , Pericak‐Vance M. A. , Hung W.‐Y. , Wapenaar M. C. , van Ommen G. , Roses A. D. , Kakulas B. A. 
Published: March 2007

AbstractThe majority of Duchenne and Becker muscular dystrophy cases are caused by deletions observable in Southern blots with cDNA probes for the gene. When the deletion includes polymorphic probes, they may be used to determine carrier status by deletion segregation analysis: non‐inheritance of parental alleles, or heterozygosity. The polymorphic genomic probe P20 is deleted in a large percentage of probands. P20 hybridizes with two constant fragments of 6.7 and 0.8 kb in Taql digests. In a number of probands, only the larger P20 Taq1 fragment is deleted. This study demonstrates that this fragment corresponds with the polymorphic EcoRV and Mspl fragments of P20. Families in which the upper Taql fragment is deleted may be screened for carrier status using non‐inheritance of parental alleles or heterozygosity of P20 in EcoRV or Mspl digests.
Fetal echocardiography using transvaginal and transabdominal probes during the first period of pregnancy: A comparative study
Authors: D'Amelio Renzo , Giorlandino Claudio , Masala Liana , Garofalo Massimo , Martinelli Monica , Anelli Giuseppe , Zichella Lucio 
Published: March 2007

AbstractThe authors compare the diagnostic possibilities of fetal transabdominal echocardiography versus transvaginal echocardiography. A larger diagnostic capacity is verified in different gestation ages with transvaginal probe between the 11th and 14th week of gestation. The results are emphasized by colour Doppler.
Congenital myotonic dystrophy: An often unsuspected cause of severe polyhydramnios
Authors: Levine Amy B. , Eddleman Keith A. , Chitkara Usha , Willner Judith P. , Vosatka Robert J. , Berkowitz Richard L. 
Published: March 2007

AbstractTwo cases of severe polyhydramnios are presented in which the unsuspected diagnosis of myotonic dystrophy was made in the patient and the fetus.
Detection of fetal cells in maternal blood
Authors: Yeoh S. C. , Sargent I. L. , Redman C. W. G. , Wordsworth B. P. , Thein S. L. 
Published: March 2007

AbstractWe report the detection of fetal cells in the maternal circulation by enzymatic amplification of a single copy gene sequence that was fetal‐specific. Fetal HLA‐A2‐positive cells were sorted from maternal HLA‐A2‐negative cells by flow cytometry and confirmed by demonstration of a fetal‐specific HLA‐DR4 sequence. However, this sequence could not be detected in unenriched maternal DNA prepared at 28 and 32 weeks' gestation. The sensitivity of detection was 1 HLA‐DR4‐positive cell in 105 HLA‐DR4‐negative cells. We conclude that prenatal diagnosis of paternally inherited autosomal‐dominant genetic defects may be possible by selective gene amplification of maternal peripheral blood. However, preliminary enrichment for fetal cells may be necessary.
HUMAN CHORIONIC GONADOTROPHIN AND ALPHA‐FETOPROTEIN LEVELS IN MATCHED SAMPLES OF AMNIOTIC FLUID, EXTRAEMBRYONIC COELOMIC FLUID, AND MATERNAL SERUM IN THE FIRST TRIMESTER OF PREGNANCY
Authors: Wathen N. C. , Cass P. L. , Kitau M. J. , Chard T. 
Published: March 2007

AbstractSeparately identified samples of amniotic fluid and extraembryonic coelomic fluid obtained by high resolution transvaginal ultrasound‐guided amniocentesis from 32 women between 7 and 12 weeks of pregnancy were analysed for human chorionic gonadotrophin (hCG) and alpha‐fetoprotein (AFP). There was a highly significant difference between the hCG levels in amniotic fluid (median level 6.3 U/ml; range 1.6–310.0 U/ml) and those in extraembryonic coelomic fluid (median level 400.0U/ml; range 135.0–2250.0U/ml) (p<0.001; Mann‐Whitney U/–test). The levels of AFP were very similar in amniotic fluid (median 26.0 kU/ml; range 10.0–116.5 kU/ml) and extraembryonic coelomic fluid (median level 24.1 kU/ml; range 12.4–94.4 kU/ml).
Alteration in age‐specific risks for chromosomal trisomy by maternal serum alpha‐fetoprotein and human chorionic gonadotropin screening
Authors: Miller C. H. , O'Brien T. J. , Chatelain S. , Butler B. B. , Quirk J. G. 
Published: March 2007

AbstractMaternal serum screening for alpha‐fetoprotein (AFP) and human chorionic gonadotropin (hCG) increases the detection rate of Down's syndrome (DS) pregnancies. To estimate the risk of a DS pregnancy for a particular woman, Wald et al. combine a trivariate function of AFP, hCG, and unconjugated oestriol with age‐specific risk. Calculation of independent likelihood ratios (LRs) for AFP and hCG has allowed us to examine the predictive value of each test alone and the combination. AFP and hCG were measured in stored serum samples from 672 normal, 8 trisomy 21 (DS), 9 trisomy 18, and 2 trisomy 13 pregnancies. AFP and hCG multiples of the median (MOM) were calculated for each sample. The LRs for AFP MOM and hCG MOM were calculated and combined with age‐specific risk. Of eight DS pregnancies, six had increased risk based on age and AFP. Addition of hCG detected two additional DS pregnancies. Of nine trisomy 18 pregnancies, four (44 per cent) had hCG MOM under 0–25. Three out of nine would have been classified as high risk by AFP, but none by combined AFP and hCG. Amniocentesis would have been recommended in 74 per cent of aneuploid pregnancies if both age and serum screening were used. Abandonment of amnio‐centesis based on age alone would have excluded two abnormal pregnancies from detection. Screening programmes should note that combined risk figures are specific for DS and do not include other trisomies. Detection of other trisomies requires inclusion of low hCG level as a discriminator and continuation of age‐based testing.
Further predictors of renal dysplasia in fetal obstructive uropathy: Bladder pressure and biochemistry of ‘fresh’ urine
Authors: Nicolini Umberto , Tannirandorn Yuen , Vaughan Janet , Fisk Nicholas M. , Nicolaidis Peter , Rodeck Charles H. 
Published: March 2007

AbstractUrine was aspirated on two consecutive days from the dilated bladder of nine fetuses with lower urinary tract obstruction. Gestational age ranged from 17 to 35 weeks. Renal dysplasia was diagnosed histologically in four fetuses, whereas the other five had normal renal histology or only partial dysplasia.Urinary sodium (Na+) and osmolality (Osm) decreased significantly in the second urine sample 1 day after bladder emptying (median decrease: Na+ = −11.3 per cent; Osm= −13.3 per cent). Although there were no significant differences between fetuses with or without renal dysplasia, normalization of an initially raised urine Na + concentration occurred at the second sample in a fetus with partially normal renal histology, thus correcting a false‐positive diagnosis of dysplasia.Bladder pressure was measured at the time of the first urine sampling in seven fetuses and in a further eight with bladder outlet obstruction undergoing a single urine aspiration at 18–28 weeks. Bladder pressure was increased above the reference range in 8 of 15 fetuses with urinary obstruction, but there was no correlation between pressure and the degree of impairment of renal function.Although no conclusive clinical guidelines can be drawn from this study for the evaluation of fetal renal function, these findings suggest that, in lower urinary tract obstruction, tubular reabsorption is impeded by the standing pressure in the urinary tract and that improvement of renal function may occur following relief of obstruction.
Prenatal diagnosis in autosomal dominant Beckwith‐Wiedemann syndrome
Authors: Viljoen D. L. , Jaquire Z. , Woods D. L. 
Published: March 2007

AbstractA 20‐year‐old woman with Beckwith‐Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.
Prenatal ultrasound diagnosis of Apert's syndrome
Authors: Narayan Harini , Scott Ian V. 
Published: March 2007

AbstractA mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16–17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination.
Prenatal diagnostic procedure for leukocyte adhesion deficiency
Authors: Weening R. S. , Bredius R. G‐ M. , Wolf H. , van der Schoot C. E. 
Published: March 2007

AbstractLeukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder which leads to recurrent severe infections due to impaired leukocyte functions. The disorder is caused by an absence or deficiency of leukocyte cell adhesion molecules (LeuCAMs) on the leukocyte membranes. The diagnosis is established with monoclonal antibodies against the LeuCAMs.We have carried out a prenatal diagnostic procedure by means of cordocentesis in a mother who was 20 weeks pregnant and had previously given birth to a child with LAD. This previous child had the severe form of LAD with undetectable mRNA for the β chain, the common subunit of the LeuCAMs. We found that the fetal granulocytes expressed the LeuCAMs normally. At birth, the baby was physically normal and showed no signs of impaired leukocyte functions.
Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children
Authors: Boué J. , Muller F. , Simon‐Bouy B. , Faure C. , Boué A. 
Published: March 2007

AbstractThree hundred and twenty‐six French families with a cystic fibrosis‐affected child who were referred for prenatal diagnosis were analysed by sibship size: 74.2 per cent of the couples had no further pregnancies to term after the affected child, who was deceased in 34.6 per cent of cases. These couples were followed prospectively after prenatal diagnosis and 77 had two or more consecutive pregnancies with prenatal diagnosis. The aim of these couples was to succeed in constituting a family with two normal children.
Prenatal diagnosis of recurrent Larsen syndrome: Further definition of a lethal variant
Authors: Mostello Dorothea , Hoechstetter Leah , Bendon Robert W. , Dignan Peter St. J. , Oestreich Alan E. , Siddiqi Tariq A. 
Published: March 2007

AbstractLarsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence of the syndrome was diagnosed prenatally, but a lethal outcome again resulted despite preparation for anticipated perinatal complications. Because of the wide clinical variation and the lack of a known metabolic defect, delineation between the various forms of Larsen syndrome is difficult. While the lethal variant appears to be a combination of the Larsen phenotype and pulmonary hypoplasia, other features noted in the lethal cases, such as abnormal palmar creases and laryngotracheomalacia, are also seen in patients with Larsen syndrome who survive.
Progression of exencephaly to anencephaly in the human fetus—an ultrasound perspective
Authors: Wilkins‐Haug Louise , Freedman Walter 
Published: March 2007

AbstractExencephaly as a precursor of anencephaly is well delineated in animal studies. In humans, a similar though unproven embryologic sequence is postulated. In the case reported, serial ultrasound studies allowed us to identify a 16‐week human exencephalic fetus and observe the cephalic changes during its progression to a classic anencephalic appearance.
The normal fetus of an acardiac twin pregnancy: Perinatal management based on echocardiographic and sonographic evaluation
Authors: Donnenfeld Alan E. , van de Woestune Johanna , Craparo Frank , Smith Catherine S. , Ludomirsky Avi , Weiner Stuart 
Published: March 2007

AbstractExperience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in‐utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post‐mortem placental and fetal angiography, and umbilical cord blood gas determination provided proof that retrograde arterial perfusion occurs in the acardiac fetus. In a fourth pregnancy, an experimental approach to occlude the acardiac twin's umbilical cord was attempted, but was unsuccessful.
Screening for fetal Down's syndrome with maternal serum markers—an experience in italy
Authors: Mancini Giuliana , Perona Marco , Dalľamico Daniela , Bollati Carla , Albano Fulvia , Mazzone Raffaela , Rosso Maria , Carbonara Angelo Oscar 
Published: March 2007

AbstractThe effectiveness of maternal serum alpha‐fetoprotein, unconjugated oestriol, and human chorionic gonadotrophin in screening for Down's syndrome (DS) was evaluated on 840 women who underwent amniocentesis for fetal karyotype on account of their age. The risk of a DS pregnancy was established using the method of Wald et al. (1988b), which combines the age‐specific risk with that indicated by the levels of the three serum markers. In women over 35, at cut‐off risk levels of 1:250 and 1:380, the false‐positive rate was 24 and 34 per cent, respectively. In all nine cases of DS, the estimated risk was higher than 1:250. The best screening strategy with the lowest false‐positive rate was obtained by combining the three serum markers. The results suggest that this kind of screening can be proposed during genetic counselling for women under 35 and older women wishing to avoid the risk of miscarriage induced by amniocentesis.
Prenatal diagnosis of inborn errors in peroxisomal β‐oxidation
Authors: Wanders R. J. A. , Schutgens R. B. H. , van den Bosch H. , Tager J. M. , Kleijer W. J. 
Published: March 2007

AbstractIn recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal β‐oxidation of very‐long‐chain fatty acids. In general, these disorders are associated with severe neurological and physical abnormalities and death within the first years of life. In this paper we describe our experience with regard to the prenatal diagnosis of a number of different inborn errors of peroxisomal β‐oxidation. Eleven pregnancies at risk were monitored by measuring very‐long‐chain fatty acid levels as well as very‐long‐chain fatty acid β‐oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells. Five affected fetuses were identified. It is concluded that prenatal diagnosis in this group of diseases can be done reliably using cultured chorionic villous fibroblasts or amniotic fluid cells.
Prenatal diagnosis in multiple gestation: 20 Years' experience with amniocentesis
Authors: Anderson R. L. , Goldberg J. D. , Golbus M. S. 
Published: March 2007

AbstractThree hundred and thirty‐nine cases of multiple gestation underwent prenatal diagnosis by amniocentesis. The spontaneous abortion rate (to 28 weeks) in this group was 3.57 per cent compared with our singleton abortion rate of 0.60 per cent. The perinatal mortality rate (PMR) and prematurity rate were not different from the singletons, and compared favourably with the PMR reported in the literature for multiple gestations which did not undergo any intervention during pregnancy. This increased abortion rate following amniocentesis may only represent the increased natural loss rate in multiple gestations, and not indicate any increased risk added by the procedure.
Pallister Killian‐mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case
Authors: Bresson J. L. , Arbez‐Gindre F. , Peltie J. , Gouget A. 
Published: March 2007

AbstractA new case of mosaic tetrasomy 12 p (46, XY/47, XY, + i 12 p), diagnosed during pregnancy from ultrasonographic signs, is reported. We emphasize the peculiar position of the diaphragmatic hernia in this syndrome. Its presence or absence determines the vital prognosis and the age of diagnosis. The knowledge of its possible association with tetrasomy 12 p can contribute considerably to the neonatal diagnosis by directing the work of the cytogeneticist to tissue cultures which enable him to detect the presence of the tetrasomy.
Cu/Zn superoxide dismutase quantification from fetal erythrocytes—an efficient confirmatory test for Down's syndrome after maternal serum screening and sonographic investigations
Authors: Porstmann T. , Wietschke R. , Cobet G. , Stamminger G. , Bollmann R. , Rogalski V. , Pas P. 
Published: March 2007

AbstractAn enzyme immunoassay especially designed for the quantification of Cu/Zn superoxide dismutase (SOD) in erythrocytes has been applied to measure the SOD of outcomes with high risk for Down's syndrome. From 148 fetuses SOD was quantified from erythrocytes of umbilical vein blood and related to the number of cells, the content of haemoglobin (Hb), and to the haematocrit (Hc). Comparative studies between the SOD content of erythrocytes from the fetuses and their mothers resulted in similar SOD levels (14.09 ± 1.20 for fetal and 14.48 ± 1.63 for maternal cells) with a 1.84‐fold smaller variance for fetal cells. The best differentiation between normal fetuses and fetuses with Down's syndrome resulted from the SOD/cell ratio followed by the SOD/Hb ratio. Fixing a cut‐off value from the probability density functions that the method results in a specificity of 99.99 per cent, the sensitivity to detect cases of Down's syndrome was 99.71 per cent for the SOD/cell ratio, 70.92 per cent for the SOD/Hb ratio, and 60.21 per cent for the SOD/Hc ratio. Nine cases with Down's syndrome were correctly diagnosed by the SOD/cell ratio determination. Eight of these were confirmed as free trisomy 21 by karyotype analysis and one was found to be a triploidy. The latter was not detected by the SOD/Hb and SOD/Hc ratios because of the one‐third higher content of haemoglobin and the larger volume of the erythrocytes which resulted in ratios within the normal range.