bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of hereditary elliptocytosis with molecular defect of spectrin
Authors: Dhermy D. , Feo C. , Garbarz M. , Lecomte M. C. , Bournier O. , Chaveroche I. , Gautero H. , Boivin P. , Daffos F. , Forestier F. 
Published: March 2007

AbstractHereditary elliptocytosis (HE) is, in the heterozygous state, a common mild congenital hemolytic disease. In contrast, homozygous elliptocytosis is a severe transfusion‐dependent hemolytic anemia. The major determinant of red cell membrane shape and stability is a two‐dimensional proteinaceous meshwork named membrane skeleton. Spectrin, the most important protein of the membrane skeleton, is basically a heterodimer composed of alpha and beta chains. Within the membrane, spectrin dimers self‐associate to form tetramers. In type I HE spectrin dimer self‐association is defective and an excess of spectrin dimer is present in the patient's red cell membranes. The defective self‐association is often correlated with an abnormality of the spectrin alpha chain which is depicted by limited tryptic digest of spectrin. In a family previously studied by us (Dhermy et al., 1984), the search for a spectrin defect in the red cells of the fetus of the pregnant mother was indicated for the following reasons: the diagnosis of heterozygous type I HE with the same spectrin variant had been made in the mother as well as in the father. Moreover, homozygous HE had been recognized in one of the children born two years previously with a persistent and severe transfusion dependent hemolytic anemia. Preliminary studies of normal fetal erythrocytes at twenty weeks gestation have shown that fetal and adult spectrin molecules are identical. The results obtained in the fetus at risk allowed us to diagnose type I HE (though elliptocytes were not present in the blood) for the following reasons: (i) erythrocyte deformability was decreased (ii) spectrin self‐association was defective with an excess of dimer species in the membrane (iii) limited tryptic digest of spectrin showed the same abnormal pattern as seen in the heterozygous mother, with a decrease in the 80,000‐dalton peptide and a concomitant increase in the 74,000‐dalton peptide. The heterozygous state, strongly suspected on the tryptic digest pattern of fetal spectrin, was confirmed when the mother gave birth to a baby who did not have hemolytic anemia during the first 18 months of life.
Deceased co‐twin as a cause of false positive amniotic fluid AFP and AChE
Authors: Winsor Elizabeth J. T. , Brown B. St. John , Luther Edwin R. , Heifetz Stephen A. , Welch J. Philip 
Published: March 2007

AbstractA pregnancy was terminated because of persistently elevated amniotic fluid AFP (+10 S.D.) and an AChE band of low intensity on gel electrophoresis. No fetal anomalies were detected by ultrasonographic examination. Autopsy revealed an apparently normal fetus of about 20 weeks gestation. Attached to the placenta was a small sac containing a fetus papyraceus co‐twin of about 8–9 weeks gestation. The small deceased co‐twin and its gestational sac were not detected prenatally despite multiple ultrasonographic examinations. The difficulty in the interpretation of apparently conflicting results is emphasized.
Umbilical and uterine flow velocity waveforms in pregnancies complicated by major fetal anomalies
Authors: Meizner Israel , Katz Miriam , Lunenfeld Eitan , Insler Vaclav 
Published: March 2007

AbstractA continuous wave Doppler unit was used to obtain umbilical and uterine artery flow velocity waveforms in pregnancies complicated by a major fetal abnormality. A total of 139 examinations were performed on 32 women between 26 to 41 weeks' gestation, and the records were reviewed to determine the changes associated with fetal malformation. The systolic/diastolic (A/B) ratio was used as an index of blood flow resistance in the umbilical artery and the systolic minus diastolic divided by systolic (A–B)/A for the branches of the uterine artery.Seventeen out of 32 patients showed high systolic/diastolic ratio in waveforms taken from the umbilical artery. In 30 out of 32 patients the uterine artery waveform was normal (in two patients the results were equivocal).It appears that a fetal mechanism may determine the changes in the umbilical placental circulation resulting in an umbilical artery pattern of high flow resistance in more than half of the patients with congenital anomalies.
Experience with first trimester prenatal diagnosis of Menkes disease
Authors: Tønnesen T. , Horn N. , Søndergaard F. , Jensen O. A. , Gerdes A.‐M. , Girard S. , Damsgaard E. 
Published: March 2007

AbstractWe have performed 28 first trimester diagnoses for Menkes disease in 27 high risk pregnancies by direct copper measurement on chorionic villi (c.v.) Two male fetuses were found to be affected because of significantly increased copper content. In one male fetus a slightly increased copper content was observed indicating an exogenous copper contamination of the sample. This view was supported by normal results observed after abortion. Three out of 15 diagnostic c.v. samples with a female karyotype showed increased copper levels. In two of these cases, part of the copper content might have been released from the cannulae used for these particular biopsies.Histochemical visualization of copper accumulation in fixed chorionic villi of two affected fetuses and one female fetus was observed.[64Cu]‐uptake studies have been performed on 11 diagnostic and 10 control c.v. samples. As the control samples in some cases were found to incorporate more [64Cu] than the corresponding diagnostic sample, this method cannot at present be used for diagnosis.Compiled results on newborn females gave evidence that two carriers expressed the paternal X‐chromosome, and two carriers expressed the maternal X‐chromosome in chorionic villi.
Trisomy 18 and maternal serum and amniotic fluid alpha‐fetoprotein
Authors: Lindenbaum R. H. , Ryynänen M. , Holmes‐Siedle M. , Puhakainen E. , Jonasson J. , Keenan J. 
Published: March 2007

AbstractMaternal serum and amniotic fluid alpha‐fetoprotein levels were studied retrospectively in a total of 58 pregnancies with trisomy 18. In those pregnancies uncomplicated by either fetal exomphalos or neural tube defect the midtrimester maternal serum alpha‐fetoprotein (MSAFP) levels were markedly reduced, the median value for 38 such pregnancies being 0.6 multiples of the median (MoM).Trisomy 18 with exomphalos was associated with a higher median MSAFP, but still within the normal range: 1.1 MoM, (nine pregnancies); trisomy 18 with exomphalos and neural tube defect (NTD) was associated with grossly raised levels: median MSAFP was 4‐5 MoM (three pregnancies).Amniotic fluid alpha‐fetoprotein (AFAFP) levels were normal in uncomplicated trisomy 18 pregnancies: median AFAFP, for 19 pregnancies, was 1.1 MoM. Exomphalos alone, or together with neural tube defect, was associated with greatly elevated levels of AFAFP; for exomphalos alone median AFAFP was 9.59 MoM (four pregnancies), and for exomphalos with neural tube defect the median AFAFP was 23.95 Mom (three pregnancies).Screening with low and high MSAFP, routine ultrasound, and amniocentesis on all women aged 35 years or over, together might identify over 50 per cent of pregnancies with trisomy 18.
Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis
Authors: Kirkilionis A. J. , Rodney P. , Sergovich F. R. , Armstrong R. 
Published: March 2007

AbstractAn 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.
Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi
Authors: Roels F. , Verdonck V. , Pauwels M. , de Catte L. , Lissens W. , Liebaers I. , Elleder M. 
Published: March 2007

AbstractPeroxisomes and their metabolites the plasmalogens were visualized in chorionic villi by quick and simple procedures. Villi were stained and mounted in toto, and can also be embedded. These methods may contribute to early prenatal diagnosis of peroxisomal disorders (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease a.o.).
Chorionic villus sampling and acceptance rate of prenatal diagnosis
Authors: Cao A. , Cossu P. , Monni G. , Rosatelli M. C. 
Published: March 2007

AbstractIn this paper, we compared the acceptance rate of fetal diagnosis for β‐thalassemia in three group of couples of Sardinian descent; the first counselled before DNA analysis was available, the second presenting after DNA analysis was introduced but too late for chorionic villus sampling and thus monitored by amniocyte DNA analysis and the third presenting within the first trimester after DNA analysis was introduced and thus in time for trophoblast DNA analysis. A higher proportion of couples from the latter group opted for fetal testing as compared to the 1st and 2nd group. These results indicate that in this population, introduction of 1st trimester diagnosis made prenatal testing acceptable to practically all counselled couples at risk.
The association of congenital skin disorders with acetylcholinesterase in amniotic fluid
Authors: Bick D. P. , Balkite E. A. , Baumgarten A. , Hobbins J. C. , Mahoney M. J. 
Published: March 2007

AbstractWe describe a fetus with epidermolysis bullosa dystrophica and a fetus with aplasia cutis congenita who were normal by careful ultrasound examination but whose midtrimester amniotic fluids exhibited elevated concentrations of alpha‐fetoprotein and presence of acetyl‐cholinesterase. These cases show that serious fetal skin pathology can be a source of amniotic fluid acetylcholinesterase and elevated alpha‐fetoprotein concentration and should be considered as part of the differential diagnosis of these amniotic fluid findings.
Bilateral renal agenesis in three consecutive siblings
Authors: Morse Richard P. , Rawnsley Eileen , Crowe Harte C. , Marinpadilla Miguel , Graham John M. 
Published: March 2007

AbstractWe report here an unusual recurrence of bilateral renal agenesis (BRA) in three consecutive siblings. Chromosome analysis was normal, as were renal ultrasound studies on both parents and their surviving child. Ultrasound was employed prenatally to diagnose Potter's syndrome in both of the recurrences, and autopsy confirmed BRA in otherwise normal fetuses. Recurrence of BRA points to the usefulness of ultrasound in monitoring subsequent pregnancies in couples who have had one such occurrence. Ultrasound studies should also be performed in non‐affected family members to detect the presence of asymptomatic anomalies of the genitourinary system, but a negative family study does not preclude recurrence of BRA.
Normal development in two six‐year‐old boys born after prenatal diagnosis of trisomy 20 mosaicism
Authors: Tolmie J. L. , Ferguson‐Smith M. E. , Gilmore D. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractPrenatal diagnosis of trisomy 20 mosaicism was made in two pregnancies by chromosome analysis of cultured amniotic fluid cells. In both cases, the pregnancy continued to term and a healthy male infant was delivered. Regular assessments up to the age of 6‐5 years revealed normal physical and intellectual development in both children.
First‐trimester prenatal diagnosis of Sanfilippo C disease
Authors: di Natale P. , Pannone N. , D'Argenio G. , Gattit R. , Ricci R. , Lombardo C. 
Published: March 2007

AbstractAt 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl‐CoA: α‐glucosaminide N‐acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow‐up study on fetal fibroblasts confirmed the diagnosis.
Can fetal gastroschisis always be diagnosed prenatally?
Authors: Knott P. D. , Colley N. V. 
Published: March 2007

AbstractFetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long‐term herniation through the abdominal wall and primary surgical correction was successful. Gastroschisis has previously been classified as ‘antenatal’ and ‘perinatal’, and we conclude that the latter type is not always possible to diagnose prenatally.
Longitudinal assessment of blood flow velocity waveforms in the healthy human fetus
Authors: Arduini D. , Rizzo G. , Mancuso S. , Romanini C. 
Published: March 2007

AbstractA longitudinal study was carried out on 30 healthy fetuses in order to assess the modifications of fetal blood flow throughout pregnancy. The pulsatility index was evaluated at two‐week intervals by means of pulsed Doppler equipment. In the umbilical artery measurements were performed from 20 weeks onwards, whereas in the descending aorta and internal carotid artery analysis started from 26 weeks onwards. A decrease of the pulsatility index in umbilical artery and in the ratio between the pulsatility indexes in umbilical artery and internal carotid artery was found over the second half of pregnancy.
Vaginal bleeding in pregnancies associated with fetal Down syndrome
Authors: Cuckle H. S. , Wald N. J. 
Published: March 2007

AbstractIt has been suggested that vaginal bleeding in pregnancy is associated with an increased risk of fetal Down syndrome. To investigate this, information on vaginal bleeding, collected at the first antenatal visit, was abstracted from the medical notes of 70 pregnancies associated with Down syndrome and 140 unaffected controls matched for maternal age. Fourteen cases (20 per cent) and 23 controls (16 per cent) had some evidence of bleeding (relative risk estimated as the odds ratio= 1.3; P=0.26, one‐sided; 95 per cent confidence interval 0.6–2.8). When these results were pooled with those from the two other controlled studies already published the combined relative risk estimate was 1.8 (P=0.02, two‐sided; 95 per cent confidence interval 1.1–3.0). On the basis of present evidence, there is some reason to regard vaginal bleeding prior to the first antenatal visit as a risk factor for Down syndrome but the association and its biological significance remains uncertain.
Ontogeny of fetal liver glucose‐6‐phosphatase activity
Authors: Simpson Thomas J. , Koresawa Mitsuhiko , Hogge W. Allen , Holzgreve Wolfgang , Golbus Mitchell S. 
Published: March 2007

AbstractA reliable and sensitive microassay for the measurement of liver glucose‐6‐phosphatase is described. Human fetal liver was assayed for glucose‐6‐phosphatase activity from 7.5 to 24 weeks of gestation and was found to have a mean activity of 2.11 nmol per min per mg of protein. This was approximately 30 per cent of the postnatal controls assayed by the same method, but there was no evidence of a change in activity during the gestational period examined. If fetal liver tissue can be reliably obtained, it may be possible to determine a deficiency of glucose‐6‐phosphatase in fetuses who are at risk.
Prenatal diagnosis of neural tube by measurement of serum alpha‐fetoprotein defects in havana city
Authors: Rodriguez P. L. , Heredero B. , Oliva R. J. , Zaldivar G. O. 
Published: March 2007

AbstractPrenatal screening was carried out in Havana City, Cuba, as part of a National Medical Genetics Programme, in order to detect elevated alpha‐fetoprotein concentration in maternal serum (MS‐AFP). A total of 97 900 pregnant women between 15 and 19 weeks of pregnancy were tested from 1982 to 1985.A double‐antibody‐sandwich technique was used.173 malformed fetuses were detected. Confirmation was by ultrasonography, elevated AFP values in a second serum sample and in amniotic fluid and acetylcholinesterase. No termination of a normal pregnancy occurred. The screening of all pregnancies is easy, economical and useful for detecting not only fetuses suffering from open Neural Tube Defects (NTDs) and other severe disorders but also pregnancies at risk of further complications.
Prenatal ultrasound diagnosis of fetal scoliosis with termination of the pregnancy: Case report
Authors: Henry R. J. W. , Norton S. 
Published: March 2007

AbstractGross scoliosis of the fetal thoracic spine was diagnosed at 18 weeks gestation. The pregnancy was terminated and the fetus found to have webbing of the neck and an imperforate anus in addition to vertebral defects.
Prenatal diagnosis of del(11)(p13p15)
Authors: Stern Robert J. , Hunter William S. , Moross Tessa , Gardner H. Allen 
Published: March 2007

AbstractPrenatal diagnosis of del(11)(p13p15) was made on cultured amniotic fluid cells and confirmed on fetal skin fibroblasts after termination of pregnancy. Both irides appeared behind schedule in development by 2–3 weeks in reference to the gestational age of the fetus. It is suggested that the aniridia of the aniridia‐Wilms tumour association is due to developmental arrest. Confirmation of this complex is difficult at mid‐gestation without critical pathological study of the eyes.
Transabdominal chorionic villus sampling for fetal genetic diagnosis. Technical and obstetrical evaluation of 100 cases
Authors: Smidt‐Jensen Steen , Hahnemann Niels 
Published: March 2007

AbstractFirst trimester fetal diagnosis was established in 100 pregnancies at risk by transabdominal chorionic villus sampling (TA‐CVS). Forty‐eight per cent of the women were 35 years or more at the time of sampling. Using the double needle technique, both the aspiration and the diagnostic success rate were 100 per cent. The mean amount of villi aspirated was 28·2 mg (10–50 mg). The mean needle time was 3 min. Vaginal spotting appeared in 2 per cent of the women. Four women had therapeutic abortion due to abnormal findings and one for social reasons. Three fetuses with normal karyotypes were lost. Excluding the therapeutic abortions, the fetal loss rate was 3±2 per cent. The fetal loss rate in the amniocentesis control group (n = 200) was 3±6 per cent. The cytogenetic diagnosis was carried out by the direct preparation technique as well as by chorion villus cultivation. All karyotypes were confirmed by lymphocyte cultures from umbilical cord blood or heel blood from the newborn or from aborted fetal tissue. Transabdominal CVS is deemed a safe and easy tool for achieving chorionic villi in the first trimester.
Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester
Authors: Therkelsen A. J. , Jensen P. K. A. , Hertz J. M. , Smidt‐Jensen S. , Hahnemann N. 
Published: March 2007

AbstractFirst trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans‐abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short‐term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short‐term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.
Artificial instillation of amniotic fluid as a new technique for the diagnostic evaluation of cases of oligohydramnios
Authors: Gembruch U. , Hansmann M. 
Published: March 2007

AbstractIn cases of severe oligohydramnios, sonographic diagnosis is hampered by poor visibility and by increased fetal flexion. Therefore, 74 artificial instillations of amniotic fluid were performed in 50 pregnancies by sonographic guidance. Fetal diseases included Potter's syndrome, obstructive uropathy, cystic kidneys (20 cases); Meckel's syndrome, C. de Lange syndrome, cytomegaly fetopathy (1 case each); VATER association (2 cases); triploidy (5 cases); severe intrauterine growth retardation (8 cases); and premature rupture of membranes (12 cases).By improved sonographic visibility and the observation of fetal behaviour (drinking, filling of stomach and bladder, voiding of bladder after artificial instillation of amniotic fluid), the fetal anatomy could be studied more accurately, malformations could be identified or excluded, and bladder function could be examined. Thus, differentiation between fetuses without functioning kidneys and those with severe intrauterine growth retardation becomes possible. Further, re‐aspiration on the day following instillation permitted determination of the karyotype. Finally, the artificial instillation of amniotic fluid is a hazardous intervention (rupture of membranes, labour) and should be reserved only for a small number of selected cases with diagnostically unclear oligohydramnios. For these cases, it seems to be the method of choice permitting a variety of diagnostic information to be obtained.
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B
Authors: Minelli Antonella , Danesino C. , Lo Curto F. , Tenti Patrizia , Zampatti Clementina , Simoni G. , Rossella Franca , Fois A. 
Published: March 2007

AbstractTwo pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N‐acetyl‐a‐D‐glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.
Fetal bradyarrhythmia: Diagnosis and outcome
Authors: Wladimiroff J. W. , Stewart P. A. , Tonge H. M. 
Published: March 2007

AbstractSeventeen patients were referred to our ultrasound unit because of fetal bradyarrhythmia (<100 bpm). Duration of pregnancy varied between 21 and 40 weeks. Bradyarrhythmia was diagnosed as atrioventricular block (n = 12), mild sinus bradycardia (n = 3), and irregular bradycardia (n = 2). The association with maternal collagen disease was 29 per cent and with cardiac structural defects 59 per cent. The overall mortality was 41 per cent. There were three abnormal karyotypes (17 per cent) and four cases of cardiac compromise (23 per cent).Prognosis depends on the nature of the bradyarrhythmia and recognition of associated pathology such as cardiac structural defects, abnormal karyotype and degree of cardiac compromise.
Prenatal diagnosis of Hunter syndrome using fetal plasma
Authors: Lissens W. , Van Lierde M. , Decaluwe J. , Foulon W. , Evrard P. , van Hoof F. , Freund M. , Liebaers I. 
Published: March 2007

AbstractThe X‐linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2‐sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. The diagnosis was confirmed after termination of pregnancy.
The use of gamma glutamyl transferase activity in amniotic fluid in the detection of fetal trisomy 21
Authors: Jones S. R. , Evans S. E. 
Published: March 2007

AbstractThe value of using gamma glutamyl transferase (GT) to select amniotic fluids for karyotyping from patients at low risk of chromosome defects is assessed. This paper reports on 16 pregnancies with fetal trisomy 21 and compares these to two previous reports of GT in fetal trisomy 21. The value of GT is contrasted to the value of AFP in selecting liquors for karyotyping.