bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal ultrasound detection of humero‐radial synostosis in a case of antley‐bixler syndrome
Authors: Savoldelli G. , Schinzel A. 
Published: March 2007

AbstractThe Antley‐Bixler syndrome is characterized by multiple skeletal fusions including humero‐radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley‐Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80° in both elbows was seen together with humero‐radial synostosis and bowing of the ulnae. The fetus performed jerky cranio‐caudal movements in its shoulders, but did not, during five hours of real‐time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero‐radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero‐radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.
Ultrasonic placental localization in relation to spontaneous abortion after mid‐trimester amniocentesis
Authors: Hill Joseph A. , Reindollar Richard H. , McDonough Paul G. 
Published: March 2007

AbstractThis paper summarizes our experience with a series of 562 women referred for mid‐trimester amniocentesis for prenatal diagnosis. Ultrasonography was utilized for placental localization. Follow‐up revealed a fetal loss rate of 3.03 per cent with 1.96 per cent being spontaneous abortions. Patients with an anterior placenta had a fetal loss and spontaneous abortion rate of 4.06 per cent and 3·05 per cent, respectively. No significant difference in the incidence of fetal loss (p > 0·1) or spontaneous abortion (p > 0·5) was found in patients having an anterior versus a posterior placenta. Neither multiple insertions through an anterior placenta nor blood contaminated amniotic fluid from patients with an anterior placenta were associated with an increased incidence of fetal loss or spontaneous abortion.
Mucolipidosis IV: Prenatal diagnosis by electron microscopy
Authors: Kohn Gertrude , Sekeles Eliezer , Arnon Judith , Ornoy Asher 
Published: March 2007

AbstractMucolipidosis IV (ML 1V) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 un‐ affected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.
Prenatal diagnosis of cleft lip and palate by ultrasound
Authors: Savoldelli G. , Schmid W. , Schinzel A. 
Published: March 2007

AbstractBilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross‐section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.
Fetal blood group studies during mid‐trimester pregnancy and the management of severe isoimmunization
Authors: Mackenzie Ian , Guest Claire M. , Bowell Peter J. 
Published: March 2007

AbstractFetal blood samples collected at 14–22 weeks' gestation by fetoscopy have been analysed for 25 different red cell antigens and anti‐A antibodies. The results obtained demonstrate that the technique can be used to determine fetal blood groups during mid‐pregnancy and also to provide the opportunity to study the physiological and pathological developments of blood groups and their antibodies and to manage more rationally those pregnancies threatened by erythroblastosis fetalis.
Prenatal determination of uridine diphosphate galactose‐4‐epimerase activity
Authors: Gillett M. G. , Holton J. B. , Macfaul R. 
Published: March 2007

AbstractA prenatal diagnosis has been performed in a pregnancy at risk for uridine diphosphate galactose‐4‐epimerase deficiency, an enzyme variation causing severe symptoms in the neonatal period similar to those of classical galactosaemia. The postnatal enzyme investigation, and uneventful development of the child, indicate that the prediction of an unaffected, heterozygous, fetus was correct.
Prenatal sonographic diagnosis of meconium peritonitis
Authors: Clair Michael R. , Rosenberg Eric R. , Ram Panol C. , Bowie James D. 
Published: March 2007

AbstractThe ultrasonographer may be the first physician to suggest the presence of a fetal abnormality. A case of prenatally‐detected meconium peritonitis is presented, with sonographic and radio‐graphic correlation.
The safety of fetoscopy: (I). Effect of umbilical vessel puncture on the fetal heart rate and cord histology
Authors: Hertogs K. , Nicolini U. , Tzannatos C. , Rodeck C. H. 
Published: March 2007

AbstractThe fetal heart rate (FHR) was continuously monitored during 42 umbilical vessel punctures performed at the placental insertion of the cord in 24 diagnostic fetoscopies in which pure fetal blood was obtained. In only one patient did a deceleration first appear during puncture and aspiration of fetal blood. In two patients decelerations preceded fetoscopy and in two others they began during the fetoscopy but before puncture of an umbilical vessel. In 19 patients, the FHR did not change at all during the procedure. Fetal haemorrhage after sampling was either absent or minimal. Six pregnancies were terminated because a positive diagnosis had been made and 18 healthy babies were born.Umbilical cords were examined after 7 terminations of pregnancy and after 6 deliveries. In the former group the puncture could just be seen with the naked eye and the needle track was demonstrated histologically in 6. No traces of the puncture or other abnormalities were found in the cords after delivery.Fetal blood sampling from umbilical cord vessels, particularly at the placental insertion of the cord, is the technique of choice since pure fetal blood can be obtained without increasing the risk of fetoscopy.
A cost‐benefit analysis of a population screening programme for neural tube defects
Authors: Sadovnick Adele D. , Baird Patricia A. 
Published: March 2007

AbstractPopulation screening for neural tube defects is possible by measuring maternal serum alpha‐fetoprotein levels with appropriate follow‐up as required. British Columbia has approximately 39 000 births annually and the incidence of neural tube defects is 1–55 per 1000 births (0–94 per 1000 livebirths). Results from a cost‐benefit analysis suggest that the outlined screening programme would be cost‐beneficial for British Columbia. Other important factors essential to consider before instituting a population screening programme are discussed.
Sonographic diagnosis of cystic adenomatoid malformation in‐utero
Authors: Cohen Ronald A. , Moskowitz Peter S. , McCallum W. Desmond 
Published: March 2007

AbstractRoutine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.
Amniocentesis carried out for neural tube indications in South Wales 1973–1981: Outcome of pregnancies and findings in the malformed abortuses
Authors: Laurence K. M. , Dew J. O. , Dyer C. , Downey K. H. 
Published: March 2007

AbstractThe 2872 second trimester amniocenteses followed by amniotic alphafetoprotein (AFP) estimations carried out in South Wales between 1973 and 1981 on women known to be at increased risk for neural tube defect (NTD) and those who had a raised serum AFP level in an NTD screening programme led to the identification of 78 pregnancies of a fetus with anen‐cephalus, 61 with ‘open’ spina bifida, 8 with gastroschisis, 3 with exomphalos, 2 with encephalo‐cele and 6 with chromosome abnormality. Pregnancies of fetuses having 4 potentially identifiable NTDs were missed because of an equivocal AFP level and there were two false positive results leading to the termination of one normal fetus. It is emphasized that both the latter problems of one normal fetus. It is emphasized that both the latter problems would not have occurred had gel‐electrophoresis for isoenzymes of acetyl cholinesterase been available. Follow‐up of pregnancies showed that 7 children with ‘closed’ NTD and 3 with congenital hydrocephalus were born.The anencephalics and the ‘open’ spina bifidas had a more florid lesion than is usual at term. Nearly all the spina bifidas were associated with hydrocephalus, often severe and with an obvious Arnold‐Chiari malformation. All but 13 had leg or back deformation or malformations in other systems, mostly in the renal tract.
Prenatal detection of hydrolethalus syndrome
Authors: Hartikainen‐Sorri Anna‐Liisa , Kirkinen Pertti , Herva Riitta 
Published: March 2007

AbstractThe prenatal diagnosis of hydrolethalus syndrome is presented on the basis of seven cases. The results demonstrate the primary importance of ultrasonography in the evaluation of this type of malformation. Already in early pregnancy, the intracranial abnormalities and the accelerated growth rate of the fetal head are demonstrable by ultrasound more easily than in ordinary ‘simple’ hydrocephalus.Diagnostic amnioncentesis in early pregnancy proved to be useless because alpha‐feto‐protein levels and chromosomal status were normal.
Preparation of high resolution chromosomes from amniotic fluid cells
Authors: Hoo J. J. , Jamro Heidi , Schmutz Sheila , Lin C. C. 
Published: March 2007

AbstractA relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5μg/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures.
Fetal blood sampling via the umbilical cord using a needle guided by ultrasound report of 66 cases
Authors: Daffos Fernand , Capella‐Pavlovsky Martine , Forestier François 
Published: March 2007

AbstractPure fetal blood has been aspirated in utero from the umbilical vein near the placental insertion of the cord using a twenty gauge needle under ultrasound guidance.Sixty‐six samples were taken on 63 pregnancies between 17 and 32 weeks of gestation. One to two millilitres of blood can be obtained easily without amniotic fluid dilution or contamination by maternal blood, as confirmed by the measurements of the mean corpuscular volume, the histogram distribution of the red blood cells and the hematocrit. In all cases the Kleihauer test and isoelectrofocusing of the hemoglobins were performed. Coagulation factors were also studied in 60 cases.In 17 cases a medical abortion was voluntarily induced after the procedure, and the follow‐up was normal during the observation period after sampling. In the other cases, pregnancies have continued normally and twelve healthy babies have already been born.
Recurrence risk of neural tube defects following a miscarriage
Authors: Cuckle Howard S. 
Published: March 2007

AbstractData from 280 sibships in three published series were used to see if the increased risk of neural tube defect (NTD) associated with having had a miscarriage in the immediately preceding pregnancy was also found in women with a previous affected pregnancy. A statistically significant relative risk of 4.0 (2‐tail P=0.0111, Fisher exact test) was found among such women, and this could not be accounted for by the effect of parity or of a history of miscarriage in general. The finding may be useful when counselling patients.
Prenatal prediction of duplication 10q24→qter by gene dosage of GOT1 on uncultured amniotic cells
Authors: Dallapiccola B. , Novelli G. , Micara G. , Ferranti G. , Pachi A. , Magnani M. 
Published: March 2007

AbstractGlutamic‐oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24→qter, due to maternal translocation t(9;10)(p24;q24).Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red blood cells of a 10q24→qter trisomic fetus monitored by midtrimester amniocentesis.In the present pregnancy, the GOT1 activity of amniotic cells exhibited a triplex gene dosage, suggesting duplication of region 10q24→qter in the fetus. The biochemical prediction was confirmed two weeks later by cytogenetic analysis.
Normal second‐trimester amniotic fluid alphafetoprotein and acetylcholinesterase associated with fetal sacrococcygeal teratoma
Authors: Brock David J. H. , Richmond David H. , Liston W. A. 
Published: March 2007

AbstractAmniocentesis was performed at 19 weeks' gestation on a patient with two sequential serum alphafetoprotein values above 2 times median. Ultrasound examination suggested a possible sacrococcygeal teratoma. However, both amniotic fluid alphafetoprotein and acetylchol‐inesterase were normal, and the patient elected to continue her pregnancy. At 24 weeks fetal demise was confirmed, and prostaglandin induction of labour produced a macerated female fetus with a large sacrococcygeal teratoma.
Limited use of chromosomal markers in prenatal diagnosis
Authors: Friedrich Ursula , Jensen Peter K. A. 
Published: March 2007

AbstractBy aid of fluorescent centromere markers in chromosome No. 3 it could be shown that crossing over in a translocation quadrivalent had occurred on two occasions in a father who is carrier of a 3/5 translocation. This case demonstrates that marker chromosomes cannot always be used to trace the parental origin of structurally abnormal chromosomes.
Activity and multiple forms of α‐L‐fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs
Authors: Beyer E. M. , Wiederschain G. Ya. 
Published: March 2007

AbstractIt was shown that activities and isoenzyme patterns of x‐L‐fucosidase and hexosaminidase were similar in biopsy specimens of chorion obtained immediately before induced abortion in normal pregnancy and in chorion tissue itself. A comparative study of isoenzyme patterns of these glycosidases showed their similarity in chorion and human fetal kidney, liver and lungs. The data obtained may be applied to the investigation of the multiple forms of α‐L‐fucosidase and hexosaminidase in chorion biopsy specimens for the prenatal diagnosis of fucosidosis (α‐L‐fucosidase deficiency). Tay‐Sachs diseases (hexosaminidase A deficiency) and Sandhoff disease (deficiency of hexosaminidase A and B).
Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy
Authors: Loft Anne , Tabor Ann 
Published: March 2007

AbstractFrom 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow‐up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogeneric errors in this study was very low.
Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q)
Authors: Long Wenda S. , Mennuti Michael T. , Emanuel Beverly S. , Zackai Elaine H. 
Published: March 2007

AbstractMosaicism for a structural chromosome abnormality in amniotic cell cultures indicative of true fetal mosaicism is a rare event. In addition to the laboratory findings the clinical interpretation for counselling in such cases is based on observation of the same abnormality in liveborns as well as previous experience with prenatal diagnosis of the same or similar abnormalities. We report here the prenatal diagnos is of 46,XX/46,XX,−21,+t(21q21q) which was confirmed in fetal skin cell and amnion cell cultures.
Prenatal diagnosis of anhidrotic ectodermal dysplasia
Authors: Arnold M.‐L. , Rauskolb R. , Anton‐Lamprecht I. , Schinzel A. , Schmid W. 
Published: March 2007

AbstractThis paper reports on successful prenatal diagnosis of X‐linked anhidrotic ectodermal dysplasia (AED) by means of light and electron microscopy on fetal skin biopsies obtained under fetoscopy.In the present family two brothers of the proband were severely affected with the full symptomatology of AED, the pregnant female and her mother revealed minor symptoms with patches of skin lacking vellus hair. Control of lesional skin of the affected family members by electron microscopy revealed no ultrastructural abnormalities. However, all biopsies lacked skin appendages including hair follicles, sebaceous glands, and sweat glands. The lack of pilosebaceous follicles can be used as a diagnostic criterion since these structures are fully developed in normal fetuses of 20 weeks whereas the development of sweat glands does not start before week 20 to 24 of fetal life. Skin biopsies were taken from various regions of the fetus at risk via fetoscopy in week 20 and processed for light and electron microscopy. All samples revealed complete absence of all skin appendages in contrast to a total of 61 non‐AED fetuses. Thus positive prenatal diagnosis of AED was made and the pregnancy was terminated. Control investigations after abortion confirmed the diagnosis.
Evaluation of inorganic pyrophosphate in amniotic fluid as a mode of prenatal diagnosis of osteogenesis imperfecta
Authors: Garver Kenneth L. , Blitzer Miriam G. , Ibezim Gladys , Marchese Sandra G. , Pegram Dolores L. , Hagins Anita M. , Zhang Wnjing 
Published: March 2007

AbstractUsing a modified procedure by Solomons and Styner (1969), an evaluation of inorganic pyrophosphate (PPi) was performed on the amniotic fluid of two fetuses at risk for osteogenesis imperfecta (OI) at 14½ weeks gestation. The parents of both cases had a previous child with OI, Type II. The normal control group at 14–16 weeks gestation had PPi values ranging from 22.0–59.2 ug/100 ml, with a mean of 38.6±9.51 ug/100 ml. In each at‐risk fetus, the amniotic fluid PPi value was within normal range. The first baby was born phenotypically normal at term. Intrauterine radiographic and fetal sonograms were done on the second fetus at approximately 19 weeks gestation. Both showed evidence of OI, Type II. The pregnancy was terminated at 21 weeks. Radiologic studies of the aborted fetus were consistent with OI, Type II. Our results indicate that the evaluation of PPi levels in amniotic fluid is not the method of choice for prenatal diagnosis of IO.
Prenatal diagnosis of 45,X/46,XX mosaicism: True mosaicism in only one of four primary cultures
Authors: Knight L. A. , Lawce H. , Wcislo K. L. , Bannister V. S. 
Published: March 2007

Abstract45,X/46,XX mosaicism was found in only one of four primary amniotic fluid cultures. Repeat amniocentesis revealed 45,X/46,XX mosaicism in all four primary cultures. Mosaicism was confirmed in tissues from the abortus.
Maternal cell contamination of amniotic fluid cell cultures from two consecutive pregnancies complicated by fibroids
Authors: Benn P. A. , Gilbert F. , Hsu L. Y. F. 
Published: March 2007

AbstractThe detection of maternal cells in amniocyte cultures is thought to be due to the outgrowth of cells from small fragments of maternal tissue removed by the amniocentesis needle. An unusual case is reported in which maternal cell contamination (MCC) was found in the cell cultures from a woman in two different amniocenteses from two consecutive pregnancies. Both pregnancies were complicated by the presence of fibroids and the fibroid tissue may have been the source of the maternal cells.A history of an amniocentesis in which there was MCC of cell cultures, or the detection of fibroids, may pose an additional risk for MCC attributable misdiagnosis in prenatal genetic studies.
A rare non‐heterochromatic 9p+ variant in two amniotic fluid cell cultures
Authors: Archidiacono N. , Pecile V. , Rocchi M. , Dalpra L. , Nocera G. , Simoni G. 
Published: March 2007

AbstractTwo cases of amniotic fluid cell cultures are reported, where a familial, non‐heterochromatic 9p+ variant has been found.
Amniotic fluid microvillar enzyme activities in the early detection of fetal abnormalities
Authors: Brock David J. H. , Bedgood David , Hayward Caroline , Carbarns Neil J. , Gosden Christine 
Published: March 2007

AbstractMeasurement of the microvillar enzymes, γ‐glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities have now been examined. GGTP activities were below the 5th percentile in 28 out of 54 cases of trisomy 21 and 9 of 14 cases of trisomy 18, while APM values were below this cut‐off in 26 of 54 cases of trisomy 21 and 8 of 14 cases of trisomy 18. Abnormal ALP isoenzyme ratios were found in 6 of 54 cases of trisomy 21 and 4 of 14 cases of trisomy 18. If prenatal cytogenetic studies are routinely carried out on amniotic fluid cells, the occasional confounding effect of abnormal microvillar enzymes associated with fetal trisomies rather than with cystic fibrosis should be avoided.
Chromosome analysis of first trimester chorionic villus biopsies Prepared by a maceration technique
Authors: Heaton D. E. , Czepulkowski B. H. , Horwell D. H. , Coleman D. V. 
Published: March 2007

AbstractA technique for the culture of chorionic villi for cytogenetic studies is described which is simple, reliable, rapid, and suitable for routine laboratory use. This method eliminates the need for multi‐stage and time‐consuming procedures inherent in previous techniques which have been developed for this tissue. Cultures suitable for analysis were obtained in an average of sixteen days and the risk of maternal cell contamination was evaluated. Results of cultures initiated from 50 chorion biopsies obtained by transcervical blind aspiration at a weekly termination clinic are presented, and the potential use of this technique as a routine procedure is discussed.