bluuebunny/crossref_metadata_2025_split huggingface dataset:
Placental mosaicism in a case of 46,XY, −22, +t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis
Authors: Spinner Nancy B. , Gibas Zenon , Kline Rochelle , Berger Bruce , Jackson Laird 
Published: March 2007

Abstract46,XY, −22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31‐year‐old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, but the placenta demonstrated a 46,XY,46,XY, −22,+t(22;22) or i(22q) mosaicism, with 65 per cent of the cells being 46,XY. This case provides an example of placental mosaicism for a normal male karyotype, while the fetus demonstrated non‐mosaic trisomy 22.
Chorionic villus metaphase chromosomes and interphase nuclei analysed by chromosomal in situ suppression (CISS) hybridization
Authors: Klever Martin , Grond‐Ginsbach Caspar J. , Hager Hans‐Dieter , Schroeder‐Kurth Traute M. 
Published: March 2007

AbstractMetaphase chromosomes and interphase nuclei of chorionic villus samples (CVS) in five cases were studied after treatment with trypsin and post‐fixation in formaldehyde by chromosomal in situ suppression (CISS) hybridization. Our modified protocol enables the use of in situ hybridization. techniques on CVS preparations after 42 h ofculture. A balanced translocation and trisomy 13 were identified with the aid of CISS hybridization.
Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X‐centromeric probe
Authors: Bajalica Svetlana , Bui The‐Hung , Koch Jørn , Bröndum‐Nielsen Karen 
Published: March 2007

AbstractThe karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X‐centromeric probe and fluorescence in situ hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.
Hyperechogenic areas detected in fetal chest at routine ultrasound examination. Three cases
Authors: Sands R. H. , Lilford R. J. 
Published: March 2007

AbstractThree cases of intrathoracic hyperechogenic areas on fetal ultrasound are described. Two apparently resolved spontaneously and the infants are alive at 1 year and 7 months, respectively. The third infant was found to have a pulmonary sequestration of the extra‐lobar variety which required surgical resection.
Prenatal identification of small mosaic markers of different chromosomal origins
Authors: Stetten Gail , Blakemore Karin J. , Courter Anne M. , Coss Cathleen A. , Jabs Ethylin Wang 
Published: March 2007

AbstractIn situ hybridization using a series of alphoid DNA probes has demonstrated the origin of two small accessory mosaic marker chromosomes ascertained from 1079 amniocenteses. These markers appeared to be de novo, derived from acrocentric chromosomes, and identical by traditional cytogenetic staining (G, Q, C, AgNOR, Hoechst‐distamycin). Molecular characterization showed that one marker had originated from chromosome 14, the other from chromosome 22. Clinical outcome in both cases was normal.
Amniotic fluid levels of human chorionic gonadotropin and its alpha and beta subunits in second‐trimester chromosomally abnormal pregnancies
Authors: Wolf Gordon C. , Byrn Francis W. , McConnell Thomas S. , Khazaeli M. B. 
Published: March 2007

AbstractAmniotic fluid from 135 pregnancies was assayed for human chorionic gonadotropin (hCG) and its free alpha (ahCG) and free beta (bhCG) subunits. Forty‐six chromosomally abnormal pregnancies between 14 and 20 weeks' gestation were matched with 89 chromosomally normal samples. Compared with controls, trisomy 21 pregnancies exhibited significantly elevated levels of all three peptides, whereas trisomy 18 gestations gave rise only to significant elevation of ahCG. Female fetuses in both the trisomy 21 and trisomy 18 pregnancies provided significantly elevated levels of hCG and bhCG compared to their male counterparts. On converting the values to multiples of the median, it was determined that 6 of 7 trisomy 18 samples had abnormally elevated alpha/beta ratios, as did 6 of 21 Down's syndrome pregnancies. Further, 11 of 21 trisomy 21 gestations had abnormal amniotic fluid hCG levels. Using only ahCG, bhCG and their ratio, a 61 per cent sensitivity was found for these trisomies, with a 96 per cent specificity.
The dilemma of a low rate of chromosomal mosaicism found in fetal blood sampling
Authors: Fejgin Moshe , Barnes Inbal , Lipnick Noami , Magid Zipporah , Kohn Gertrude , Amiel Aliza 
Published: March 2007

AbstractWe report a case in which mosaicism of trisomy 13 was detected in 4/10 cells (40 per cent) in amniotic fluid cell cultures, followed by a low rate of mosaicism (1/160 cells) detected in a fetal blood sample. This finding presents a dilemma both for the genetic counsellor and for the parents in determining whether or not to terminate the pregnancy.
Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha‐1‐antitrypsin
Authors: Forrest S. M. , Dry P. J. , Cotton R. C. H. 
Published: March 2007

AbstractThe most common mutation in alpha‐1‐antitrypsin deficiency, conversion of a G to an A at base 9989 (PI‐Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.
Fetal karyotype from cystic hygroma fluid
Authors: Ville Y. , Borghi E. , Pons J. C. , Lelorc'H M. 
Published: March 2007

AbstractIn cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY, 46,XX, and 45,X (n = 3).
First‐trimester prenatal diagnosis of Roberts syndrome
Authors: Stioui S. , Privitera O. , Brambati B. , Zuliani G. , Lalatta F. , Simoni G. 
Published: March 2007

AbstractWe present a case of prenatal detection of premature centromere separation on chorionic villi sampled at 8 weeks' gestation from a woman at risk of recurrence of Roberts syndrome. The same cytogenetic characteristic was confirmed on amniocytes at 14 weeks when ultrasound examination showed morphological anomalies of the fetus. To our knowledge, this is the first report of early prenatal diagnosis of Roberts syndrome.
Prenatal diagnosis of familial congenital pyloric atresia
Authors: Peled Yoav , Hod Moshe , Friedman Shmuel , Mashiach Reuven , Greenberg Nirit , Ovadia Jardena 
Published: March 2007

AbstractFamilial congenital pyloric atresia is a rare malformation of the fetal gastrointestinal tract. It usually manifests as maternal polyhydramnios and enlarged fetal stomach on ultrasound scan. Sonographic prenatal diagnosis and management of a pregnancy complicated by familial congenital pyloric atresia are presented.
Factors associated with multiple‐pass procedures during chorionic villus sampling: A video analysis
Authors: Silver Richard K. , Macgregor Scott N. , Hobart Edward D. 
Published: March 2007

AbstractMultiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple‐pass procedures, a detailed review of 205 videotaped CVS procedures (single pass = 163; multiple pass = 42) was performed, blinded to pregnancy outcome. The route of sampling did not influence the need for multiple aspiration attempts (transabdominal—30/ 135; transcervical—12/70), nor was placental location alone discriminatory. However, the combination of a posterior placenta and uterine retroversion was observed more frequently in the multiple‐pass cohort (8/42 vs. 9/163; p<0.05). In transabdominal cases, suboptimal needle placement (e.g., perpendicular to the placental long axis) was more common in the initial aspiration of a multiple‐pass procedure (21/30 vs. 38/105;p<0.01), while limited penetration of the catheter tip (e.g., just inside the placental edge) characterized a majority of multiple‐pass cases in the transcervical subset (7/12 vs. 3/58; p<0.0001). A case‐control cohort was constructed to evaluate the impact of these technical variables on sampling efficacy, independent of the influence of uterine position and placental site. In that analysis, suboptimal location and/or orientation of the sampling device remained characteristic of multiple‐pass cases. We conclude that further reduction in the frequency of multiple‐pass procedures might be achieved by consistent placement of the device tip in the central placental mass. Unlike amniocentesis, where any point of amnion entry will suffice, this technical nuance should be emphasized with CVS to maximize the single‐pass success rate.
The psychological effects of false‐positive results in prenatal screening for fetal abnormality: A prospective study
Authors: Marteau Theresa M. , Cook Rachel , Kidd Jane , Michie Susan , Johnston Marie , Slack Joan , Shaw Robert W. 
Published: March 2007

AbstractThe purpose of the study was to describe the impact of false‐positive results from initial maternal serum alpha‐fetoprotein (MS‐AFP) screening. The analyses compared two groups of women, those receiving a negative result (n = 346) and those receiving an initial positive result (n = 26), over four time points—prior to testing, immediately after testing, later in pregnancy, and in the post‐partum period. Receiving an abnormal result was associated with high levels of anxiety which were reflected in increased worry about the baby's health and a more negative attitude towards the pregnancy and the baby. Women who had an initial abnormal result were offered a variety of further tests. Those women who went on to have amniocentesis were less worried about their baby's health in the third trimester and also less anxious post‐partum than those who did not have amniocentesis. In view of the increasing number of screening tests available, it is necessary to establish whether and how these levels of distress can best be reduced.
CA‐125 as a maternal serum marker for Down's syndrome in the first and second trimesters
Authors: Høgdall C. K. , Høgdall E. V. S. , Arends J. , Nørgaard‐Pedersen B. , Smidt‐Jensen S. , Larsen S. O. 
Published: March 2007

AbstractCA‐125, alpha‐fetoprotein (AFP), and human chorionic gonadotropin (HCG) were determined in maternal serum in the first trimester from 14 women with a Down's syndrome fetus and 61 women with a healthy fetus. In the second trimester, 15 and 60 serum samples were determined from women with a Down's syndrome and a healthy fetus respectively. In both trimesters, maternal serum CA‐125 was found to be elevated in Down's syndrome pregnancies compared with controls. Using discrimination functions, our preliminary results indicate that CA‐125 is a better marker than AFP and HCG respectively for a Down's syndrome fetus in the first trimester and improves the detection rate in the second trimester.
Rapid prenatal diagnosis of trisomy 18 and triploidy in interphase nuclei of uncultured amniocytes by non‐radioactive in situ hybridization
Authors: Christensen Britta , Bryndorf Thue , Philip John , Lundsteen Claes , Hansen Winnie 
Published: March 2007

AbstractTwo biotinylated chromosome‐specific DNA probes were used to quantify the number of chromosomes 18 and 1 in uncultured amniocytes. Thirty‐three samples of uncultured amniocytes were hybridized with a chromosome 18‐specific DNA probe. Uncultured cells from two of the 33 samples were also hybridized with a chromosome 1‐specific probe.Thirty of the samples were disomic with respect to chromosome 18; two samples were trisomic with respect to chromosome 18, and one sample was trisomic with respect to chromosomes 1 and 18. The two cases of trisomy 18 and the single case of triploidy were identified on uncultured celis within 48‐72 h after amniocentesis. They were found among five samples from pregnant women who had amniocentesis because of an ultrasonographically identified fetal malformation.A trisomic karyotype could be diagnosed with certainty in uncultured amniocytes because the majority of the responding nuclei exhibited three hybridization signals. In normal cells, the majority of nuclei exhibited two signals. In no cases was there discordance between the genotype as predicted by in situ hybridization and that determined by cytogenetic analysis.
Improved performance in a prenatal screening programme for Down's syndrome incorporating serum‐free hCG subunit analyses
Authors: Ryall R. G. , Staples A. J. , Robertson E. F. , Pollard A. C. 
Published: March 2007

AbstractA prenatal screening programme for Down's syndrome potentially detecting 76 per cent of affected pregnancies in the South Australian general population at an amniocentesis rate of 3.9 per cent was designed following analysis of mid‐trimester serum samples from 57 women who carried an affected fetus. This equates to one affected pregnancy being detected for 41 chromosomal analyses performed. For the experimental series, 75.4 per cent of affected pregnancies were detected, while 4.1 per cent of control specimens produced estimated risk odds consistent with further action. A maternal risk odds of birth of a Down's syndrome fetus of 1:420 was taken as the decision value, which is the prevalence of Down's syndrome births to 35‐year‐old mothers in South Australia. This screening performance was achieved by investigating combinations of serum analytes not previously reported and by refining the calculation of maternal risk odds to include selective weighting of indicator analytes. Combination of the measurements of free α‐subunits and β‐subunits of chorionic gonadotrophin, α‐fetoprotein, unconjugated oestriol, and placental lactogen was found to be most effective in indicating Down's syndrome fetuses. In all combinations of analytes tested, replacing the measurements of free α‐subunits and free β‐subunits of chorionic gonadotrophin with the measurement of intact chorionic gonadotropin produced a less effective screen.
Cardiotocographic and sonographic findings in two cases of antenatally diagnosed intrauterine fetal brain death
Authors: Zimmer Etan Z. , Jakobi Peter , Goldstein Israel , Gutterman Eliahu 
Published: March 2007

AbstractIntrauterine fetal brain death is a rare cause of a fixed fetal heart rate pattern. Seven cases have been previously reported in the literature, but only two of them were diagnosed prenatally and all the newborns died soon after delivery. Two additional cases of antepartum diagnosis of intrauterine fetal brain death, managed expectantly, are reported. We had the unique opportunity to document progressive sonographic cerebral changes during the follow‐up period, following the neurological event, while the fetus continued life and growth in utero. The cardiographic and sonographic findings suggesting intrauterine fetal brain death were a prolonged fixed fetal heart rate, even following a vibroacoustic and contraction stress test; an atonic fetus without breathing and body movement; and the appearance of hydramnios and the development of ventriculomegaly.
Genetic amniocentesis at 7–14 weeks of gestation
Authors: Jørgensen Finn Stener , Bang Jens , Lind Anne‐Marie , Christensen Britta , Lundsteen Claes , Philip John 
Published: March 2007

AbstractGenetic amniocentesis performed at 7–14 weeks of gestation was studied in a series of 138 patients of whom 50 wanted termination of pregnancy (⩽ 12 weeks). The material for analysis consisted of 132 samples due to two sampling failures and four samples being handled incorrectly. Forty‐eight samples (36 per cent) were taken at 7–12 weeks of gestation, mainly transvaginally (36/48:75 per cent). The success rate of culture and karyotyping increased with the duration of pregnancy, but was only satisfactory from week 11 onwards. The time until harvest was then 14–15 days.The transvaginal approach is easy to perform and was accepted by the women, but we experienced bacterial or fungal overgrowth in 17 per cent of these samples, whereas no infection occurred in the samples taken transabdominally (n = 96).We conclude that genetic amniocentesis is feasible from week 11, but further studies concerning side effects, especially focusing on the procedure‐related abortion risk, should be carried out before early amniocentesis is routinely applied.
Clues and pitfalls in the early prenatal diagnosis of ‘late onset’ infantile polycystic kidney
Authors: Bronshtein M. , Bar‐Hava I. , Blumenfeld Z. 
Published: March 2007

AbstractInfantile polycystic kidney disease (IPKD) is an autosornal recesive inherited disorder, IPKD has been previously diagnosed by us as early as the 14th week of gestation. ‘Late onset’ (third trimester) IPKD has been previously described by several authors. We present here a case of intrauterine detection of ‘late onset’ IPKD, suggesting that elongated hyperechogenic kidneys (with normal transverse and anteroposterior diameters) should be considered as an early sign of ‘late onset’ presenting IPKD.
Prenatal diagnosis of Fryns' syndrome
Authors: Pellissier M. C. , Philip N. , Potier A. , Scheine C. , Aymé S. , Mattei J. F. , Giraud F. 
Published: March 2007

AbstractWe report on a new case of ultrasonographic prenatal diagnosis of Fryns' syndrome during the second pregnancy of a young woman whose first child died 90 min after birth and was diagnosed as having this autosomal recessive condition. The feasibility of diagnosis in utero and timing in the phenotypic expression of this multimalformation syndrome are discussed.
High levels of maternal serum alpha‐fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole
Authors: Zalel Y. , Weiner E. , Zabari A. , Shalev E. 
Published: March 2007

AbstractA case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha‐fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first report of combined elevation of MSAFP and MShCG.
Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome
Authors: Wapner R. J. , Simpson J. L. , Golbus M. S. , Zachary J. M. , Ledbetter D. H. , Desnick R. J. , Fowler S. E. , Jackson L. G. , Lubs H. , Mahony R. J. , Pergament E. , Rhoads G. G. , Shulman J. D. , De La Cruz F. 
Published: March 2007

AbstractCytogenetic data from the United States NICHD collaborative study of chorionic villus sampling (CVS) were used to evaluate the clinical significance of chorionic mosaicism. The 10 754 patients with normal cytogenetic results were compared wtih 108 patients (1.0 per cent) with placental mosaicism and 181 patients (1.6 per cent) with pseudomosaicism. Of the pregnancies intended to continue, the pregnancy loss rate was significantly greater in patients with placental mosaicism than in the cytogenetically normal cohort (8.6 vs. 3.4 per cent, p <0.05). However, there was no difference in the frequencies of abruptio placenta, preterm labour or delivery, small‐for‐gestational‐age newborns, pregnancy‐induced hypertension, or neonates with Apgar scores less than 7.
First‐trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study
Authors: Desnick R. J. , Schuette J. L. , Golbus M. S. , Jackson L. , Lubs H. A. , Ledbetter D. H. , Mahoney M. J. , Pergament E. , Simpson J. L. , Zachary J. M. , Fowler S. E. , Rhoads G. G. , De La Cruz F. 
Published: March 2007

AbstractThe accuracy of biochemical and molecular prenatal diagnoses using chorionic villi as the fetal source was assessed by seven centres participating in the NICHD collaborative study on the safety and accuracy of chorionic villus sampling (CVS) and amniocentesis. Of 601 pregnancies studied, biochemical methods were used to determine the diagnosis in 283 fetuses at risk for 35 different metabolic disorders. Fifteen different lysosomal storage diseases accounted for 81 per cent of the biochemical prenatal diagnoses performed, with 57 per cent of these pregnancies at risk for Tay‐Sachs disease. No errors were made in the biochemical diagnoses that predicted affected or unaffected fetuses. However, the diagnoses of certain disorders (e.g., mucopolysacchariodosis type IH, metachromatic leukodystrophy, and Krabbe disease) occasionally required confirmatory studies in cultured amniocytes because the enzyme results were inconclusive in direct and/or cultured villi or due to the presence of a pseudodeficiency allele. Of these, only the diagnosis of a fetus at risk for Krabbe disease remained inconclusive after special studies to discriminate between mutant and pseudodeficiency alleles. Recombinant DNA techniques were used to predict the diagnosis of 318 fetuses at risk for 16 different disorders in which the defective disease gene could be detected either directly or by linkage analysis to a nearby polymorphic marker. Of these, 32 per cent were for haemoglobinopathies, 25 per cent for cystic fibrosis, 24 per cent for Duchenne or Becker muscular dystrophy, and 7 per cent for haemophilias. Pregnancies at risk for known disorders with specific molecular lesions (e.g., sickle cell disease) were accurately diagnosed in direct and/or cultured villi. Diagnoses requiring analyses with closely linked polymorphic markers were occasionally uninformative or inconclusive. Maternal contamination was not reported in any biochemical or molecular‐based diagnosis. These studies document the high accuracy and rapidity of both biochemical and mutation‐specific prenatal diagnoses with direct and cultured chorionic villi.
Risk factors associated with transcervical CVS losses
Authors: Golbus Mitchell S. , Simpson Joe Leigh , Fowler Sarah E. , de la Cruz Felix , Desnick Robert J. , Wapner Ronald , Ledbetter David H. , Lubs Herbert , Mahoney Maurice J. , Pergament Eugene , Rhoads George G. , Schulman Joseph D. , Zachary Julia 
Published: March 2007

AbstractFactors found to be associated with pregnancy loss after transcervical CVS were race (higher for non‐white), history of spontaneous abortion, unplanned pregnancy, history of spotting or bleeding during the pregnancy prior to CVS, and placental position (higher for fundal or lateral locations). Whether the increase in loss risk is due to the factor, per se, or the factor plus the CVS cannot be determined due to the lack of appropriate control data.
In situ hybridization studies for the detection of common aneuploidies in CVS
Authors: Zahed L. , Murer‐Orlando M. , Vekemans M. 
Published: March 2007

AbstractWe have attempted to evaluate the efficiency of interphase cytogenetics in the detection of specific aneuploidies in chorionic villus samples. For this purpose, we used alphoid repetitive sequences specific for the chromosomes involved in the common aneuploidies, namely probes for chromosomes 13, 18, 21, X, and Y. These probes were applied to normal and abnormal CVS cases, as well as to a few mosaic cases. Results from these preliminary studies indicate that the technique can be very efficient for the detection of specific aneuploidies and can be particularly useful in the analysis of mosaic cases, which usually requires the screening of high number of metaphases.