bluuebunny/crossref_metadata_2025_split huggingface dataset:
A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism
Authors: Benn P. A. , Warburton D. , Byrne J. M. , Rudelli R. , Shonhaut A. , Yeboa K. , Mootabar H. , Hsu L. Y. F. 
Published: March 2007

AbstractA fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies.Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, −13,+ 13qter→cen::13ql3→qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed.We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements.
Analysis of normal and abnormal amniotic fluid cells in vitro by cinemicrography
Authors: Medina‐Gomez P. , Bard J. B. L. 
Published: March 2007

AbstractTime‐lapse cinemicrography has been used to study cell behaviour and movement in long‐and short‐term amniotic fluid cultures from various types of fetus. These included several with a neural tube defect (9 anencephalics, 5 spina bifidas, 2 encephaloceles), 1 with an abdominal wall lesion (omphalocele) and 9 controls with no open lesion. In short‐term (<3 days) amniotic fluid cultures from normal fetuses, non‐adherent squamous cells dominate, but there is a small population of cells which, in the longer term (∼4 weeks), will form colonies of epithelioid and fibroblastic cells. In addition, there is a further group, called ‘AF’ by Hoehn et al. (1974), which have the ability to form syncitial strands and are often multinucleated; these cells seem to be trophoblastic in origin. In contrast to the controls, short‐term anencephalic cultures contained many adherent cells; these were mainly latex‐particle‐phagocytosing macrophages and neural cells. In long‐term cultures, the neural cells dominate and differentiate into a range of recognizable forms whose type and behaviour seem to depend on cell density, time in culture and extent of cell‐cell contacts. In the spina bifida and encephalocele cultures, there were initially far fewer adherent cells than in the anencephalic ones, but, after ∼2 weeks in vitro, a range of neural cell types could be recognized in addition to those seen in the controls.In the context of prenatal diagnosis, the presence of neural cells certainly indicates that the fetus has a NTD, but the difficulty of standardizing culture conditions implies that any differential diagnosis on the basis or morphology and movement will be difficult. If, as seems likely, the AF cells of Hoehn et al. (1974) are indeed trophoblastic, amniotic fluids from the second trimester may provide a useful source of these cells.
Prenatal tests for Sanfilippo disease type B in four pregnancies
Authors: Mossman Jean , Young Elisabeth P. , Patrick A. D. , Fensom A. H. , Ellis Marie , Benson P. P. , Der Kaloustian V. M. 
Published: March 2007

AbstractWe report the prenatal diagnosis of two fetuses with Sanfilippo disease type B. In both pregnancies there were excessive amounts of heparan sulphate in amniotic fluid and the activity of N‐acetyl‐α‐D‐glucosaminidase was undetectable in cultured amniotic fluid cells. The predictions were confirmed by enzyme assay of cultured skin fibroblasts from the aborted fetus or the affected infant. The disorder was excluded for two other pregnancies at risk and the predictions are considered to be correct because of the normal progress of the healthy children.
Prenatal diagnosis of chromosome mosaicism
Authors: Benn Peter , Hsu Lillian Y. F. , Perlis Theresa , Schonhaut Amy 
Published: March 2007

AbstractThe frequency of mosaicism and pseudomosaicism in the prenatal diagnosis of cytogenetic disorders is reported, based on 3000 pregnancies studied in our laboratory. Diagnosis of true mosaicism was only made when an abnomality was detected in two or more independent cultures established from an amniotic fluid sample. On this basis, 0.37 per cent of all cases were diagnosed as true mosaics. 1.07 per cent of all cases had pseudomosaicism involving more than one cell from the same culture with an identical abnormality. 4.13 per cent of cases had a single abnormal cell with an extra chromosome, loss of a sex chromosome (or part of a sex chromosome), or translocation. Details of the outcome and follow‐up of cases is given.Particularly problematical were cases where multiple cells from one culture contained an abnormality which could have been clinically significant. A crude estimate of the extent to which true mosaicism might currently be misinterpreted as pseudomosaicism or entirely missed has been made, based on data from the U.S. survey (Hsu and Perlis, in press). It was concluded that even when two, and if necessary a third culture is extensively analysed with an average of 24 cells per culture counted, at least 4.5 per cent of cases of true mosaicism may be completely missed and at least 7 per cent could be misdiagnosed as pseudomosaicism.There is an urgent need for improved laboratory techniques which allow growth of a greater number of cell colonies and therefore a more broadly based analysis. Detailed long term follow‐up of prenatally diagnosed mosaics is also essential for assessing the clinical significance of the laboratory findings.
Normal ultrasonic size and characteristics of the fetal adrenal glands
Authors: Jeanty P. , Chervenak F. , Grannum P. , Hobbins J. C. 
Published: March 2007

AbstractUtilizing real‐time ultrasound we define the normal fetal adrenal glands from the 20th week of gestational age. The normal acoustic characteristics of the adrenals are described. Potential applications of the nomogram derived from this study are suggested.
Prenatal diagnosis of endocardial fibroelastosis
Authors: Bovicelli L. , Picchio F. M. , Pilu G. , Baccarani G. , Orsini L. F. , Rizzo N. , Alampi G. , Benenati P. M. , Hobbins J. C. 
Published: March 2007

AbstractIn a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis.
Mosaicism or pseudomosaicism: The problem of hypermodal cells in amniotic fluid cell culture
Authors: Zhang Yunjing , Garver Kenneth L. , Marchese Sandra G. , Diggans Gerard R. , Muracca‐Clemens Michele , Flecker David 
Published: March 2007

AbstractA series of 2029 consecutive amniotic fluid specimens studied for prenatal genetic diagnosis were reviewed and reassessed so as to evaluate the frequency and clinical significance of hypermodal cells in amniotic fluid cell cultures. Hypermodal cells were defined as those with more than 46 chromosomes, and were characterized by an additional structurally normal or structurally abnormal chromosome. Of 2029 specimens, 47 (2.31 per cent) contained a total of 167 hypermodal cells. True fetal mosaicism was detected in three cases (0.14 per cent). All had hypermodal cells in more than one culture flask or colony which contained the same aberrant chromosome complement. In all but one case the babies were normal when only one cell was hypermodal, or when several cells were hypermodal but present in only one colony or one culture vessel. One case had an extra No. 20 chromosome in one cell. Although the child had multiple anomalies, they were not characteristic of trisomy 20, and subsequent chromosomal study on the baby postnatally revealed a 46,XX karyotype. The in situ coverslip technique is recommended as the preferred method for prenatal diagnosis, and it is useful as an aid in differentiating true mosaicism from pseudomosaicism.
The prenatal diagnosis of transient cysts of the fetal choroid plexus
Authors: Chudleigh Patricia , Pearce J. Malcolm , Campbell Stuart 
Published: March 2007

AbstractUltrasound scanning during the second trimester of pregnancy revealed cysts of the choroid plexus in the posterior horn of the lateral ventricle in five cases. All disappeared spontaneously between 20 and 23 weeks and normal infants were subsequently delivered.
Chemical analysis of succinylacetone and 4‐hydroxyphenyllactate in amniotic fluid using selective ion monitoring
Authors: Jakobs Cornelis , Sweetman Lawrence , Nyhan William L. 
Published: March 2007

AbstractA method for the measurement of the concentration of succinylacetone and 4‐hydroxyphenyllactic acid in amniotic fluid was developed for the prenatal diagnosis of hereditary tyrosinemia. Succinylacetone was converted to 5‐methyl‐3‐isoxazolepropionic acid and isolated with 4‐hydroxyphenyllactic acid by liquid partition chromatography and the trimethylsilyl derivatives quantified by ammonia chemical ionization selected ion monitoring gas chromatography‐mass spectrometry with 2‐hydroxy‐n‐caproic acid as the internal standard. The concentration of 4‐hydroxyphenyllactic acid in normal amniotic fluid was 1.97±0.75 (S.D.) μmol/l while succinylacetone was undetectable.A pregnancy at risk for tyrosinemia type II was monitored. The concentration of 4‐ hydroxyphenyllactic acid was within the normal range and a healthy child was born.
Prenatal diagnosis of mandibulofacial dysostosis
Authors: Nicolaides K. H. , Johansson D. , Donnai D. , Rodeck C. H. 
Published: March 2007

AbstractFour fetuses at risk of the autosomal dominant Treacher—Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post‐mortem examination.
Changes in maternal serum alpha‐fetoprotein levels associated with intrauterine genetic diagnostic procedures
Authors: Simpson Gary F. , Sun Nian‐Hu , Golbus Mitchell S. 
Published: March 2007

AbstractThe amount of fetal—maternal transfusion during invasive intrauterine diagnostic instrumentation was determined by measuring the increase in maternal serum alpha‐fetoprotein (Δ AFP) caused by the procedure. Fetal liver biopsy or fetoscopy for purposes other than blood sampling caused a mean Δ AFP of 11.4 ng/ml and 34.2 ng/ml, respectively. Fetoscopy with fetal blood sampling produced a mean Δ AFP of 211.8 ng/ml, while fetoscopy followed by placentesis caused a mean Δ AFP of 462.8 ng/ml (representing a 1.07 ml fetal—maternal transfusion). Although this magnitude of fetal—maternal transfusion is an acceptable risk for the fetus, it is a sufficient transfusion to cause blood cell antigen sensitization.
Amniotic band syndrome in second trimester associated with fetal malformations
Authors: Børlum Karl‐Gerhardt 
Published: March 2007

AbstractThe Possibility of severe fetal malformations, including neural tube defects, secondary to early amniotic rupture followed by formation of fibrous bands (amniotic band syndrome) is a well‐known entitity. The fact that these pregnancies are usually uneventful makes prenatal diagnosis difficult, but routine determination of serum alphafetoprotein, followed by ultrasound scanning, may detect some of the malformations.We present a case, where detection of a neural tube defect led to induced second trimester abortion of a fetus severely affected by this syndrome. There appeared to be a causal relationship between maternal trauma and the amniotic rupture.
Maternal serum alpha fetoprotein in monozygotic and dizygotic twin pregnancies
Authors: Thom H. , Buckland C. M. , Campbell A. G. M. , Thompson B. , Farr V. 
Published: March 2007

AbstractMaternal serum α‐fetoprotein (MSAFP) values in the second trimester have been related to pregnancy outcome for 100 normal twin pairs, 42 monozygous (MZ) and 58 dizygous (DZ), liveborn after 28 weeks gestation.The median MSAFP value was 1.9 multiples of the median value (MOM) for uncomplicated singleton pregnancies. Both very low and very high MSAFP values were associated with twins of low birthweight.MSAFP values were higher in MZ than DZ twin pregnancies particularly those with dizygotes of like‐sex. This effect was even more marked when only dichorionic like‐sex twin pairs were compared.
Sonographic diagnosis of thoracic gastroenteric cyst in utero
Authors: Newnham John P. , Crues John V. , Vinstein Arnold L. , Medearis Arnold L. 
Published: March 2007

AbstractA case of prenatal sonographic detection of a posterior mediastinal cyst in an otherwise normal fetus is presented. Following surgical excision 5 days after birth, histological examination confirmed the cyst to be gastroenteric. The differential diagnosis and clinical value of prenatal detection are discussed.
Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses
Authors: Ferguson‐Smith M. A. , Yates J. R. W. 
Published: March 2007

AbstractMaternal age specific rates for all major chromosome aberrations have been determined in 52 965 pregnancies in mothers 35 years of age and over at the time of amniocentesis. Rates increase exponentially with advancing maternal age for trisomies 21, 18 and 13, and for the XXX and XXY syndromes, but in the autosomal trisomies this rise appears to be followed by a levelling off at the upper end of the age range. A significant inverse relationship with maternal age is found for 45,X cases. It is postulated that these various patterns are the result of the interaction of three principal factors: a maternal age effect acting particularly on first meiotic nondisjunction: a higher spontaneous abortion rate with advancing maternal age for aneuploid as compared to euploid conceptions; and an increased probability of spontaneous abortion before the time of amniocentesis for conceptions with more extensive chromosome imbalance. A stepwise logistic regression analysis of 13 299 pregnancies in which both parental ages are known shows that the father's age does not influence these maternal age specific rates, with the possible exception of the 47,XXY syndrome.
Risk for chromosome abnormality at amniocentesis following a child with a non‐inherited chromosome aberration a european collaborative study on prenatal diagnoses 1981
Authors: Stene Jon , Stene Eeva , Mikkelsen Margareta 
Published: March 2007

AbstractBased on 2890 prenatal diagnoses from 12 European countries the risk for a chromosomally abnormal fetus at amniocentesis after the birth of a child with a chromosome abnormality has been estimated to be 1.3 per cent when the mother's age is 34 years or less at amniocentesis and 1.8 per cent if the mother is older. This risk does not depend on paternal age, and it is independent of the type of the chromosome abnormality of the index child. Some geographical heterogeneities were detected. Therefore, the overall risk has to be considered as a rough estimate. The chromosome constitution of the abnormal fetus differed from that of the index patient in 21 of 41 cases. Several explanations for the higher risk have been discussed. If the index child had trisomy 18, 13 or a sex chromosome abnormality, the fetus tended to be a female. If the index child was a trisomy 21, the fetal sex ratio was normal.
United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis
Authors: Hsu Lillian Y. F. , Perlis Theresa E. 
Published: March 2007

AbstractThe survey of the incidence of chromosome mosaicism and pseudomosaicism detected in prenatal diagnosis included data from approximately 60 000 genetic amniocenteses in the United States. There were 59 participating cytogenetic laboratories nationwide. The overall incidence of chromosome mosaicism was 0.25 per cent (range of 0–0.89 per cent). The average frequency of pseudomosaicism involving multiple cells or clones was 0.7 per cent (range of 0–11.21 per cent). The frequency of single cell or clone pseudomosaicism was 2.47 per cent (range of 0–11.49 per cent). In cases of pseudomosaicism with trisomy, the most frequently involved chromosome was number 2; occurrence rates of trisomies 7,X,9,17 and 20 were also relatively high. In cases of pseudomosaicism with structural abnormalities, this survey showed an association between relative chromosome size and the frequency of involvement in structural rearrangement. Data on a total of 185 cases of chromosome mosaicism collected in this survey as well as from other documented sources showed 89 cases involved an autosome, 13 cases a sex chromosome, and 23 a marker chromosome. The frequency of noticeable phenotypic abnormalities was highest (37.8 per cent) in the autosomal mosaics and lowest (10.5 per cent) in the sex chromosome mosaics. The average rate for cytogenetic confirmation was 70 per cent.
Tests appropriate for the prenatal diagnosis of ataxia telangiectasia
Authors: Schwartz S. , Flannery D. B. , Cohen M. M. 
Published: March 2007

AbstractA fetus ‘at‐risk’ for ataxia telangiectasia (A‐T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of ‘at‐risk’ amniotic fluid; and cytogenic evaluation of fetal amniocytes. All three parameters proved negative and normality, based primarily on the chromosomal study of fetal cells, was therefore presumed. This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen‐induced chromosome breakage in the infant's cells. Based on previous observations from four normal and one affected fetus, the coordination of these techniques provides adequate methodology for the antenatal assessment of the phenotypes associated with A‐T.
A case of partial sirenomelia and possible vitamin A teratogenesis
Authors: Von Lennep E. , El Khazen N. , De Pierreux G. , Amy J. J. , Rodesch F. , Van Regemorter N. 
Published: March 2007

AbstractPrenatal echographical findings of a partial sirenomelic fetus are described. An attempt was made to terminate pregnancy by administration of prostaglandin F2a, but uterine rupture occurred. The teratogenic role of vitamin A ingested by the mother in the penconceptional period is discussed.
Utilization of prenatal cytogenetic diagnosis in women of advanced maternal age in Australia, 1979–1982
Authors: Bell J. A. , Pearn J. , Cohen G. , Ford J. , Halliday J. , Martin N. , Mulcahy M. , Purvis‐Smith S. , Sutherland G. 
Published: March 2007

AbstractThis paper reports the results of a complete national survey to measure utilization rates of prenatal cytogenetic diagnosis (P.C.D.) in women of advanced maternal age in Australia. P.C.D. has been available throughout Australia for the last decade. Every laboratory in Australia providing a P.C.D. service for the years 1979–1982 took part in this study. Utilization rates (both National and State rates) by ages of mothers, are presented. Big interstate differences exist. The 1982 National P.C.D. utilization rate for pregnant women who were 40 years of age and over was 38.8 per cent, and this rate has shown an average annual increase of 9 per cent. In those four States which offered P.C.D. to pregnant women of 35 years or over the median utilization rate was 20 per cent. These Australian rates indicate an under‐utilization of P.C.D. services with (in 1982) 50–80 per cent of ‘at risk’ women not being tested. Factors which influence this are discussed.
Evaluation of a prenatal screening procedure for β‐thalassaemia carriers in a chinese populationbased on the mean corpuscular volume (MCV)
Authors: Ghosh A. , Woo J. S. K. , Wan C. W. , Machenry C. , Wong V. , Ma H. K. , Chan Vivian , Chan T. K. 
Published: March 2007

AbstractHaemoglobin A2 (HbA2) levels were determined on 25 β‐thalassaemia carriers by the microcolumn method and were found to range from 4.5–7.2 per cent (mean 5.2±0.82 S.D.). The haemoglobin level (Hb), mean corpuscular volume (MCV), plasma ferritin and HbA2 levels were measured on a further 299 cconsecutive Chinese pregnant women at a gestation of less than 24 weeks. 18 patients (6 per cent) had HbA2 level greater than 4.5 per cent and were diagnosed to be β‐thalassaemic carriers. It was observed that all these patients had a MCV below 75 fl. If this level is selected in a screening procedure based on measurement of MCV alone all β‐thalassaemia carriers could be detected and 11 per cent of the population screened would require HbA2 estimation. At a lower cut‐off level of 70 fl, 8 per cent of the population screened wouid require HbA2 measurement (a decrease of 27 per cent) but the detection rate will be lowered considerably (83 per cent). The high false positive rate at all cut‐off levels of MCV was largely due to the prevalence of iron deficiency anaemia in the population. Estimation of plasma ferritin level in patients with low MCV will reduce this false positive rate, but there will be a considerable delay in diagnosis in patients with concomitant iron deficiency and β‐thalassaemia. The presence of iron deficiency in β‐thalassaemia carriers did not reduce their HbA2 level below the diagnostic range in this study. Measurement of Hb level did not appear to be useful as a screening method since one third of the β‐thalassaemia carriers had a Hb level over 11 g/dl. The validity of the MCV cut‐off levels derived from the first part of the study was assessed in screening a larger population. 61 β‐thalassaemia carriers (6 per cent) were detected out of 1166 patients screened. This incidence was not significantly different from the first part of the study. All these 61 patients had a MCV less than 75 ml.It was concluded that a two‐step screening policy, based on MCV measurement followed by HbA2 estimation when the MCV value is less than 75 fl, is suitable for our population. It is efficient, straight forward with excellent sensitivity and required less time and effort for both laboratory staff and clinicians.
Prenatal diagnosis of cystic fibrosis: I. Prospective study of 51 pregnancies
Authors: Muller F. , Berg S. , Frot J. C. , Boué J. , Boué A. 
Published: March 2007

AbstractA prenatal diagnosis was performed in 51 pregnancies with a 1‐in‐4 risk of having a child with cystic fibrosis. The criteria for determining an affected fetus were based on the results of alkaline phosphatase (ALP) residual activity after inhibition by phenylalanine and by homoarginine, of total ALP activity, and of gamma‐glutamyltranspeptidase (GGTP) activity in the amniotic fluid taken between 16 and 19 weeks of pregnancy.The chromosomal analysis of amniotic fluid cells showed trisomy 13 in one case which was excluded from the analysis of biochemical assays. The biochemical assays were in the normal ranges in the amniotic fluid of 35 pregnancies: 26 have reached term and a normal infant has been born, 9 are still in progress.A deficiency of the ALP phenylalanine‐inhibitable form, depressed values of total ALP and GGTP were observed in the amniotic fluid of 15 pregnancies: one pregnancy went to term and the infant had CF, in 14 cases the pregnancy was terminated, and meconium ileus was observed in ten of these cases.It was observed that the changes towards abnormal values became more significant with advancing gestational age and that 18 weeks appeared to be the optimum time for diagnostic amniocentesis.