bluuebunny/crossref_metadata_2025_split huggingface dataset:
The impact of maternal serum alpha fetoprotein screening on open neural tube defect births in North‐East Scotland
Authors: Thom H. , Campbell A. G. M. , Farr V. , Fisher P. M. , Hall M. H. , Swapp G. H. , Gray E. S. 
Published: March 2007

AbstractOver the three years period 1980–1982, 18 256 pregnancies in the Grampian Region of N‐E Scotland including the islands of Orkney and Shetland were screened for raised levels of maternal serum alpha fetoprotein (MSAFP) in the second trimester. Thirty six cases of fetal open neural tube defect in singletons were detected (18 anencephaly and 18 spina bifida). Four additional cases of open spina bifida were associated with normal MSAFP levels although two of these were detected by amniotic fluid AFP measurement when amniocentesis was carried out because of previous NTD history. A further three cases of open spina bifida and two of anencephaly occurred in unscreened pregnancies. The MSAFP screening programme alone was thus instrumental in reducing the birth incidence of open neural tube defects by 36 out of 45 cases (80 per cent) in singletons.
The prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger
Authors: Solish George I. , Moser Hugo W. , Ringer Laura D. , Moser Ann E. , Tiffany Carol , Schutta Edward 
Published: March 2007

AbstractThe prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family‐at‐risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirned by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families‐at‐risk for this disease.
Failure to detect fetal obstructive uropathy by second trimester ultrasound
Authors: Wladimiroff J. W. , Beemer F. A. , Scholtmeyer R. J. , Stewart P. A. , Spritzer R. , Wolff E. D. 
Published: March 2007

AbstractThe prenatal diagnosis, management and outcome of an hereditary obstructive uropathy is presented. Serial ultrasonic assessment of the fetal urinary tract was carried out from the early second trimester onward. Slight bilateral hydronephrosis as a first sign of obstructive uropathy was only established as late as 30 weeks of gestation.On the basis of weekly ultrasound scans, a conservative approach was adopted. In view of fetal maturity, labour was induced at 36 weeks resulting in the vaginal delivery of a male infant with moderate bilateral hydronephrosis. Neonatally, anuria developed due to bilateral obstruction of the ureters as a result of increasing bladder wall hypertrophy due to urethral valves.A bilateral uretero‐cutaneostomy was carried out. The infant so far develops normally, and renal function is normal for age.Women at risk for fetal obstructive uropathy should have ultrasonic monitoring throughout pregnancy.
Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)
Authors: Steinbach P. , Djalali M. , Rolland Marie‐Odile 
Published: March 2007

AbstractFibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.
Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation
Authors: Vamos E. , Pratola D. , Van Regemorter N. , Freund M. , Flament‐Durand J. , Rodesch F. 
Published: March 2007

AbstractAmniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 2Op and monosomy 4p. In addition, the amniotic fluid alpha‐fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p‐ (Wolf‐Hirschhorn) syndrome.
Prenatal diagnosis of tetrasomy 21
Authors: Lopes V. , Mak E. , Wyatt P. R. 
Published: March 2007

AbstractAmniocentesis and prenatal diagnosis were done for late maternal age and an abnormality consistent with Tetrasomy 21 (47,XX,+t(21;21)) was found in every cell examined of the initial amniotic fluid. Clinical examination revealed a fetus with many of the signs of Down Syndrome and pathological examination revealed gross abnormalities of the internal structures. Follow‐up tissues showed mosaic Tetrasomy 21.
Prenatal diagnosis for Tay‐Sachs disease using chorionic villus sampling
Authors: Grebner Eugene E. , Jackson Laird G. 
Published: March 2007

AbstractPrenatal diagnosis for Tay‐Sachs disease was performed on 25 patients using chorionic villus sampling (CVS). Nineteen were diagnosed as normal, and six were affected. Normal villus extracts had both hexosaminidase (hex) A and B activity, as determined by Cellogel and polyacrylamide gel electrophoresis, while extracts from affected fetuses had only hex B activity. Compared to cultured amniotic fluid cells or fibroblasts, villi contained less hex A. Hex A levels in fresh villi and cultured trophoblasts were roughly comparable.
Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases
Authors: Gatti R. , Lombardo C. , Filocamo M. , Borrone C. , Porro E. 
Published: March 2007

AbstractA large number of chorionic villi samples obtained from women undergoing elective first trimester termination of pregnancy was analysed by enzyme assays similar to those applied to cultured amniotic cells. The levels of 15 lysosomal enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16‐18 weeks of pregnancy and the results were discussed in order to assess the usefulness of trophoblast biopsy for first trimester diagnosis of hereditary lysosomal diseases. The data suggest the applicability of this source of fetal cells for prenatal diagnosis of fifteen respective genetically determined enzyme deficiencies with the probable exception of α‐L‐iduronidase deficiency.Enzyme determinations were performed on chorionic villi samples of two pregnancies at risk for Tay‐Sachs disease, three pregnancies for GM1 gangliosidosis type 1, one for mucopolysaccharidosis type VI and one for Wolman's disease.
Transcervical chorionic villus biopsy with a brush
Authors: Liu David T. Y. , Symonds E. Malcolm , Jeavons Bernie , Norman Sandie 
Published: March 2007

AbstractA brush delivered to the biopsy site by a metal introducer and cannula set was tested as an alternative implement for transcervical collection of chorionic villi. This implement was easy to use and readily identified by ultrasound. With only one attempt at sampling, the overall collection rate for 83 patients was 65 per cent. With practice 84 per cent successful collection was achieved. Gestations between 8 and 11 weeks was the best time for collection of chorionic villi. A single sampling can produce adequate material (15 mg wet weight) suitable for diagnostic purposes. No gestation sac was perforated but some slight bleeding followed the procedure. Appreciable success following a single sampling attempt coupled with the low complication rate suggests that this technique may have clinical application and deserves further investigation.
Early prenatal diagnosis of short rib‐polydactyly (SRP) syndrome type I (Majewski) by ultrasound in a case at risk
Authors: Gembruch U. , Hansmann M. , Födisch H. J. 
Published: March 2007

AbstractShort rib‐polydactyly (SRP) syndrome Type I was diagnosed accurately in an at‐risk fetus at 16 weeks of gestation by real‐time sonography. The most important findings were a narrow thorax, significant shortening of the long bones, particularly the tibiae, and–by directed search–the polydactyly.
A survey of diagnostic amniocenteses in Oxford from 1974–1981
Authors: Terzian Emanuela , Boreham Jillian , Cuckle Howard S. , Wald Nicholas J. , Bobrow Martin , Lindenbaum Richard , Turnbull A. C. 
Published: March 2007

AbstractA survey was conducted of the results of mid‐trimester diagnostic amniocenteses in the Oxford Region from 1974 to 1981. The survey used data relating to all 4357 singleton pregnancies in which an amniocentesis was performed during this period. Follow‐up information on outcome was obtained in respect of 4284 (98 per cent) pregnancies. A cell culture to determine karyotype and an alpha‐fetoprotein determination was carried out in all cases. From 1974 to 1981 amniocenteses became increasingly common, rising from 2 to 32 per 1000 births. The most common indication for amniocentesis was a high risk of a chromosome abnormality–56 per cent of all amniocenteses. Within this group advanced maternal age was responsible for 89 per cent of the cases. The next most common indication was a high risk of a neural tube defect (37 per cent of all amniocenteses)–in 1974 a raised maternal serum alpha‐fetoprotein level accounted for only 4 per cent of these; by 1981 this had risen to 67 per cent. There were seven false‐positive and 132 true‐positive diagnoses of neural tube defect; since 1981, with the introduction of amniotic fluid acetylocholinesterase determination as a secondary diagnostic test for neural tube defects, there have been no further false‐positive diagnoses. In 1981 76 per cent of women aged 35 years or more did not have an amniocentesis. It is not known to what extent this was due to not offering women in this age group amniocentesis or to women not accepting such an offer.
Prenatal diagnosis of hypochondroplasia
Authors: Stoll C. , Manini P. , Bloch J. , Roth M‐P. 
Published: March 2007

AbstractPrenatal diagnosis of a fetus at risk for hypochondroplasia, a short limb dwarfism condition similar to achondroplasia, was performed by ultrasound at 22 weeks' gestation. The limb bones were measured and shown to be decreased in length. The pregnancy was terminated. Post abortion X‐ray did not show caudal narrowing in the lumbar spine but the pelvis had the features of hypochondroplasia.
Anatomic correlates of ultrasonographic prenatal diagnosis
Authors: Rutledge Joe C. , Weinberg Arthur G. , Friedman Jan M. , Harrod Mary Jo , Santos‐Ramos Rigoberto 
Published: March 2007

AbstractIn utero sonographic diagnoses from forty‐five malformed infants were correlated with their autopsy findings. Fifty‐two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.
First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency
Authors: Dallapiccola B. , Novelli G. , Ferrant G. , Pachi A. , Cristiani M. L. , Magnani M. 
Published: March 2007

AbstractFirst trimester prenatal diagnosis was offered to the mother of a child affected by severe haemolytic anaemia due to glucose phosphate isomerase (GPI) deficiency. The mutant enzyme was characterized by an increased thermal lability. Both parents had 50 per cent normal red cell GPI activity. We have shown that the homozygous and heterozygous genotypes can be clearly distinguished from each other and controls by combinations of the measurement of enzyme activity and enzyme thermal lability.Examination of trophoblast cells obtained at 9 weeks of gestation led to the diagnosis of a GPI heterozygous fetus. The result was confirmed by analysis on uncultured and cultured amniotic fluid cells sampled at 16 weeks and by red blood cell studies of the healthy newborn.Prenatal diagnosis of GPI deficiency is indicated in families with previous cases resulting in severe haemolysis and mainly with the conservative view of arranging appropriate therapeutic measures for affected fetuses.
Raised maternal serum alpha‐fetoprotein in the absence of fetal abnormality‐placental findings. A quantitative morphometric study
Authors: Boyd Patricia A. , Keeling Jean W. 
Published: March 2007

AbstractTen placentae from pregnancies proceeding to term from mothers who on routine screening at 16–18 weeks gestation were found to have a raised serum AFP but no increase in amniotic fluid AFP and no fetal abnormality, were studied using morphometric techniques. The results were compared with 20 placentae from normal term pregnancies where the maternal serum AFP level was not elevated. The mean total placental volume, volume of parenchyma and villous surface area were increased in the placentae associated with a raised maternal serum AFP. More of these placentae were infarcted and the fetal‐placental weight ratio was significantly lower.The hypothesis that elevation of maternal serum AFP level is related to the increase in placental size is addressed.
Abnormal karyotype in the chorion, not confirmed in a subsequently aborted fetus
Authors: Breed A. , Mantingh A. , Govaerts L. , Boogert A. , Anders G. , Laurini R. 
Published: March 2007

AbstractAn abnormal fetal karyotype, containing a del 16(q21‐qter) as an extra chromosome, was diagnosed in all 14 metaphases examined in a sample of chorionic villous biopsy material. After elective abortion a mosaicism for this cell‐line together with a normal one was detected in the chorionic tissue. Fibroblast cultures from several fetal skin biopsies all revealed a normal karyotype.
Prune belly in trisomy 13
Authors: McKeown C. M. E. , Donnai D. 
Published: March 2007

AbstractPrune belly (urethral obstruction sequence) has previously been reported as an isolated malformation sequence, in association with trisomy 18 (Nevin et al., 1983) and more recently with trisomy 13 (Beckman et al., 1984). A further case associated with trisomy 13 in a fetus is reported. This emphasizes the importance of karyotyping fetuses with prune belly identified prenatally.
Spontaneous abortion after transcervical chorionic villus sampling: A case report
Authors: Mackenzie W. E. , Rushton D. I. 
Published: March 2007

AbstractA case of spontaneous abortion after transcervical CVS is presented. Despite no evidence of bacteria in the vagina and cervix prior to sampling and the prophylactic use of Metronidazole, pathological evidence of chorioamnionitis was found. The implications of this are discussed.
Fetal behaviour in growth retardation: Its relationship to fetal blood flow
Authors: Rizzo G. , Arduini D. , Pennestri F. , Romanini C. , Mancuso S. 
Published: March 2007

AbstractThe fetal behaviour of asymmetrical growth retarded fetuses was compared with that of a control group of healthy fetuses. Fetuses underwent simultaneous cardiotocographic and echographic examinations for two consecutive hours at 36–38 weeks of gestation. The distribution of gross fetal body movements, fetal breathing movements and fetal eye movements was analysed during the different fetal heart rate patterns. Furthermore, the incidence and organization of fetal behavioural states was investigated. The degree of vascular peripheral resistance was also evaluated by means of pulsed doppler ultrasonic equipmznt. Growth retarded fetuses were divided into two groups on the basis of the presence or absence of end diastolic flow in the fetal thoracic descending aorta.Growth retarded fetuses showed a delay in the integration of behavioural patterns and a lower coincidence of behavioural states. These findings are particularly evident in the fetuses with a severe increase of peripheral vascular resistance (absence of end diastolic flow in descending aorta). Thus, we suggest that a delay in central nervous system development is present in asymmetrical growth retarded fetuses and that there is a possible relationship of this delay to the degree of peripheral vascular resistance.
Prenatal diagnosis of cystic fibrosis: Ultrasonographic appearance of meconium ileus in the fetus
Authors: Caspi Benjamin , Elchalal Uri , Lancet Moshe , Chemke Juan 
Published: March 2007

AbstractFour often fetuses carrying a risk of 1:4 for cystic fibrosis were found to have low levels of microvillar enzymes in the amniotic fluid obtained between 17 and 18 weeks' gestational age. On sonography performed prior to the amniocentesis, three fetuses showed enlarged bowel loops. At autopsy, meconium ileus was detected. Enlarged bowel loops are a sign which has not been described previously so early in pregnancies.
Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14
Authors: Cheung Sau W. , Kolacki Paula L. , Watson Michael S. , Crane James P. 
Published: March 2007

AbstractWhile true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,‐14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post‐delivery and the isochromosome 14 identified in only one of 12 total colonies.This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.
Iniencephaly is not uniformly fatal
Authors: Katz Vern L. , Aylsworth Arthur S. , Albright Susan G. 
Published: March 2007

AbstractIniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio‐cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long‐term survival with iniencephaly. We recommend that non‐directive counselling be applied when presenting the findings of iniencephaly to parents.
Prenatal diagnosis of turner syndrome using cells cultured from cystic hygromas in two pregnancies with normal maternal serum alpha‐fetoprotein
Authors: Golden Wendy L. , Schneider Bernard F. , Gustashaw Karen M. , Jassani Majida N. 
Published: March 2007

AbstractIn two cases of prenatally detected cystic hygroma with oligohydraminos, successful cytogenetic diagnosis of Turner syndrome was achieved using cells obtained from direct aspiration of the cystic hygroma. Exceptionally high levels of alpha‐fetoprotein were found in the cystic hygroma fluid, as might be expected. However, the maternal serum alpha‐fetoprotein levels were within normal limits. Elevated alpha‐fetoprotein levels in ‘amniotic fluid’ noted previously in the literature may have resulted because of inadvertent tapping of the cystic hygroma. It is clear from our cases that maternal serum levels of alpha‐fetoprotein will not necessarily be elevated and will not serve as a screening mechanism for cystic hygromas.
Amniotic fluid alpha‐fetoprotein and acetylcholinesterase measurements in pregnancies associated with gastroschisis
Authors: Goldfine Christina , Haddow James E. , Knight George J. , Palomaki Glenn E. 
Published: March 2007

AbstractIn this study we define for the first time the distribution of alpha‐fetoprotein levels and acetylcholinesterase ratios in amniotic fluid samples associated with fetal gastroschisis. Elevated alpha‐fetoprotein levels and positive acetylcholinesterase measurements are found in virtually all cases, indicating that these combined measurements are highly reliable in detecting this lesion.
Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem
Authors: Novelli G. , Frontali M. , Baldini D. , Bosman C. , Dallapiccola B. , Pachì A. , Torcia F. 
Published: March 2007

AbstractA prenatal diagnosis of adult polycystic kidney disease by DNA testing is reported. Evidence showing a linkage between the disease and the 3′HVR and 24.1 restriction fragment length polymorphisms (RFLPs) on chromosome 16 was obtained in the proband's family by linkage analysis of data and homogeneity testing with Italian families of the linked type. Fetal genotype prediction based on both flanking markers was confirmed by histological and ultrastructural findings in fetal kidneys.
Amniotic fluid enzymes in pregnancies with trisomy 21
Authors: Giddy M. J. , Hay D. L. , Horacek I. 
Published: March 2007

AbstractThe activities of a range of microvillous enzymes in amniotic fluid from normal pregnancies (n = 213) and those complicated by trisomy 21 (n = 26) were compared in a prospective study. Using a centrifugal analyser, the activities of leucine aminopeptidase (LAP), gamma glutamyl transferase (GGT), aspartate transferase (AST), and isoenzymes of alkaline phosphate (ALP) were measured in amniotic fluid alongside alpha fetoprotein (AFP) levels. Of the markers studied, LAP was found to be the most reliable indicator of trisomy 21. Using levels below the 5th percentile, LAP showed sensitivity 73 per cent, specificity 94 per cent, and predictive value positive 63 percent. Although these tests would not replace karyotyping in all cases, the measurement of LAP could be useful as a rapid initial screening test, particularly when amniocentesis is performed for indications other than chromosomal abnormalities.
Exophthalmus–prenatal ultrasonic features for diagnosis of Crouzon syndrome
Authors: Menashe Y. , Baruch G. Ben , Rabinovitch O. , Shalev Y. , Katzenlson M. B. M. , Shalev E. 
Published: March 2007

AbstractPrenatal real‐time ultrasonographic diagnosis of exophthalmus is presented. Diagnosis was made at the 35th week of gestation in a fetus of a patient affected with Crouzon syndrome (craniofacial dysotosis). Recognition of exophthalmus as a part of Crouzon syndrome and the easy visualization of the eye balls and palpebrae in the third trimester made the diagnosis possible.