bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases
Authors: Wirth B. , Rudnik‐Schöneborn S. , Hahnen E. , Röhrig D. , Zerres K. 
Published: March 2007

AbstractPrenatal prediction in families at risk for autosomal recessive proximal spinal muscular atrophy (SMA) mainly of type I is often requested due to the high incidence and the fatal outcome of the disease. So far, only indirect genotype analysis can be performed in SMA families, since the gene has not yet been identified. We present our experience of 109 prenatal diagnoses obtained in 91 families by use of single‐ and multi‐locus polymorphic microsatellites of the region 5q11.2–q13.3. The marker combinations and specific features of the closest microsatellites are described in detail. From 137 requests for prenatal prediction of SMA between October 1991 and August 1994, 28 families were excluded, mostly because the clinical diagnosis was uncertain or doubtful. Others had to be classified as ‘SMA‐variants’ or showed autosomal dominant transmission of SMA. Of the 109 prenatal diagnoses performed, 29 fetuses were diagnosed to be at high risk (>99 per cent) of developing the disease, while in seven additional pregnancies no exact prediction could be made due to a recombination event in one parental haplotype. Altogether, recombinations between closely flanking markers were observed in 14 cases. In 35 cases, the parents decided to terminate the pregnancy. Of the remaining pregnancies, 32 could be followed beyond term. All infants were reported to develop normally without signs of SMA. Two children were born with transverse reduction defects of one hand, which was most likely related to early chorionic villus sampling at 9 and 10 weeks' gestation. No further abnormalities could be detected. The limits of indirect genotype analysis and the problems of diagnostic accuracy and heterogeneity of proximal SMA are discussed.
Attitudes to prenatal screening, diagnosis and research among pregnant women who accept or decline an alpha‐fetoprotein test
Authors: Jørgensen Finn Stener 
Published: March 2007

AbstractThe aim of the study was to describe the opinion of pregnant women who had accepted or declined an alpha‐fetoprotein (AFP) test, not only on AFP screening in general, but also on whether every pregnant woman should be offered amniocentesis (AC)/chorionic villus sampling (CVS) and an ultrasound scan for fetal malformations. An additional aim was to describe pregnant women's attitudes concerning continued research in the prenatal field. The study was performed as a questionnaire study in two regions over a 1‐year period from 1 October 1988 to 30 September 1989. Results are based on answers from 3331 women who had taken an AFP test and 336 women who had declined the offer of a test. A total of 79 per cent of the women thought that an AFP test, 70 per cent that an ultrasound scan for fetal malformations, and 26 per cent that AC or CVS should be offered to all pregnant women. Fifty‐nine per cent of the women were positive towards continued research in the prenatal field. Women who had had an AFP test were generally much more positive towards screening and research than women who had declined, who were generally against. Women who had left school without a high school degree were on average more positive towards the screening issues than women who had this degree. In conclusion, the results obtained in this study strongly suggest that women's attitudes are very dependent on how the prenatal screening programme is already organized in their local area.
The role of percutaneous umbilical blood sampling in the management of immune thrombocytopenic purpura
Authors: Garmel Sara H. , Craigo Sabrina D. , Morin Lucie M. , Crowley Jeanne M. , D'alton Mary E. 
Published: March 2007

AbstractOn consultation, percutaneous umbilical blood sampling (PUBS) was offered to women with immune thrombocytopenic purpura (ITP) to determine the mode and site of delivery prior to labour. Between January 1989 and December 1993, 41 pregnant women underwent PUBS. All women had a history of ITP, a platelet count less than 90 K, (+) antiplatelet antibody, and/or thrombocytopenia diagnosed early in pregnancy. PUBS was performed at term except in one patient with preterm labour, who underwent PUBS at 31 weeks' gestation. Patients with fetal platelet counts greater than 50 K returned to their referring physician for delivery. Records were complete in 39 pregnancies. Fetal blood was successfully obtained in 37 of 39 cases (95 per cent). Fetal platelet counts correlated with neonatal platelet counts in 36 of 37 cases (97 per cent). The interval between PUBS and delivery ranged from 0 to 31 days. Six of 37 fetuses (16 per cent) had significant fetal thrombocytopenia (<50 K). These six patients underwent Caesarean section. Vaginal delivery was recommended in all others. There were two procedure‐related complications. There were no cases of intraventricular haemorrhage in any of the neonates. In conclusion, there is a high incidence of fetal thrombocytopenia in women with ITP. PUBS reliably detects fetal thrombocytopenia and is therefore useful in the perinatal planning of the mode and site of delivery.
Ultrasound observation of amnion dysmorphism at 14.5–16 weeks
Authors: Zimmer Etan Z. , Bronshtein Moshe 
Published: March 2007

AbstractThe presence of chorio‐amniotic separation and amnion anomalies was recorded in 9500 patients referred for vaginal ultrasound examination at 14.5–16 weeks' gestation. In all patients with a change in the amnion, a search for fetal anomalies was performed and pregnancy outcome was checked. Amnion dysmorphism was observed in 30 cases. The main findings were a floating membrane which changed its configuration when the uterus was tilted and multiple intrauterine amniotic sheets. In no case was attachment of the fetus to the membranes noted. There was no fetal abnormality and pregnancy outcome was favourable in all patients. In conclusion, ultrasound visualization of amnion dysmorphism in early pregnancy is not associated with an adverse pregnancy outcome.
Thyroid antibodies are not a risk factor for pregnancies with down syndrome
Authors: Gustafsson Jan , Annerén Göran , Ericsson Ulla‐Britt , Svanberg Lars , Ivarsson Sten A. 
Published: March 2007

AbstractThe observation that thyroid disease is frequent in mothers of children with Down syndrome (DS) has suggested that maternal thyroid antibodies could be a factor predisposing to trisomy 21 in their offspring. In this study, the incidences of thyroglobulin (Tg) and thyroid peroxidase (TPO) antibodies were analysed with a sensitive solid‐phase immunosorbent radioassay in sera from 29 mothers giving birth to children with trisomy 21 and 87 control mothers. The serum samples were collected at delivery. There was no statistical difference regarding the proportion of thyroid antibodies (against Tg and/or TPO) in the two groups. Thyroid antibodies were detected in 6/29 (20.7 per cent) of the DS mothers and in 23/87 (26.4 per cent) of the control mothers. Among the women with thyroid antibodies, 4/6 (66.7 per cent) of the DS mothers and 12/23 (52 per cent) of the control mothers had antibodies against both Tg and TPO. There was no increase in the relative risk of having a child with DS if the titre of either Tg or TPO antibodies or both were positive, i.e. ≥ 1/5. The results indicate that the presence of thyroid antibodies in the serum of a pregnant woman has no prognostic value for the birth of an infant with DS.
New estimates of down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population
Authors: Halliday Jane L. , Watson Lyndsey F. , Lumley Judith , Danks David M. , Sheffield Leslie J. 
Published: March 2007

AbstractCurrent measures of livebirth prevalence of Down syndrome are derived from data obtained up to 20 years ago, before the introduction of the prenatal diagnostic tests amniocentesis and chorionic villus sampling (CVS). For women aged 36–52 years, but who were not tested prenatally, we proposed to make a direct estimate of current livebirth prevalence of Down syndrome. We could also determine prevalence at the time of CVS and amniocentesis in women of the same age undergoing prenatal testing. Differences in these prevalences allow an estimation of the relative loss of Down syndrome during pregnancy. In Victoria, Australia, we identified 3041 women having CVS, 7504 having amniocentesis, and 13 139 having no test. Smoothed regression estimates of age‐specific livebirth prevalence were found to be higher than in the early studies. The estimate of spontaneous loss was 17 per cent between the time of CVS and amniocentesis, and 18 per cent after the time of amniocentesis. The latter figure is lower than previous estimates and may be explained by a greater likelihood of a Down syndrome fetus surviving to be liveborn, given the modern approach to early obstetric intervention. These current risk estimates of livebirth may be useful updates for genetic counselling, but perhaps more importantly, may be used as precise maternal age‐related risk figures, necessary in the design and implementation of prenatal screening programmes for Down syndrome.
Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case
Authors: Sikkema‐Raddatz B. , Sijmons R. H. , Tan‐Sindhunata M. B. , Van Der Veen A. Y. , Brunsting R. , De Vries B. , Beekhuis J. R. , Bekedam D. J. , Van Aken B. , De Jong B. 
Published: March 2007

AbstractWe report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG‐banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.
Prenatal exclusion of the hhh syndrome
Authors: Gray R. G. F. , Green A. , Hall S. , McKeown C. 
Published: March 2007

AbstractPrenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second‐trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.
Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X‐ray evaluation
Authors: Oǧur G. , Oǧur E. , Celasun B. , Basȩr Ï. , Ïmïrzalioǧlu N. , Öztürk T. , Alemdaroǧlu A. 
Published: March 2007

AbstractPrenatal diagnosis for infantile osteopetrosis was attempted during the third pregnancy of a first‐cousin marriage whose family history revealed an affected previous child. At the 25th week of pregnancy, fetal X‐ray evaluation revealed marked sclerosis of osteopetrotic bone and metaphyseal splaying and clubbing of both femurs. The pregnancy was terminated and repeated X‐rays and histopathological examination of fetal bone (femur) confirmed the diagnosis.
Amniotic alpha‐fetoprotein in the prenatal diagnosis of congenital nephrotic syndrome of the finnish type
Authors: Morris Jonathan , Ellwood David , Kennedy Debra , Knight John 
Published: March 2007

AbstractCongenital nephrosis of the Finnish type (CNF) is rare outside Finland, where the incidence may be as high as 1 in 2000 live births. Neonates with the disorder develop renal failure within the first months of life and without renal transplantation, the prognosis is extremely poor. This case report describes a woman's three pregnancies, two of which were affected with CNF.
Prenatal and presymptomatic diagnosis of the marfan syndrome using fluorescence pcr and an automated sequencer
Authors: Wang Mei , Mata John , Price Christopher E. , Iversen Patrick L. , Godfrey Maurice 
Published: March 2007

AbstractThe Marfan syndrome (MFS) is a heritable connective tissue disorder characterized by skeletal, ocular, and cardiovascular abnormalities. Defects in fibrillin, an elastin‐associated microfibrillar protein, are now known to cause MFS. Since the discovery of fibrillin as the gene responsible for MFS, requests for prenatal and presymptomatic diagnosis have become common‐place. Here we report the use of the polymerase chain reaction (PCR), using fluorescence labelled primers and an automated sequencer, to establish linkage data for “molecular diagnosis”. The mistaken clinical diagnosis of MFS based on the appearance of a common cardiovascular manifestation, mitral valve prolapse, and a positive family history is also discussed.
Normal fetal growth in women with antiphospholipid syndrome treated with high‐dose intravenous immunoglobulin (IVIG)
Authors: Valensise Herbert , Vaquero Elena , De Carolis Caterina , Stipa Elisa , Perricone Roberto , Arduini Domenico , Romanini Carlo 
Published: March 2007

AbstractAntiphospholid antibodies are associated with fetal distress and fetal death. Although different therapeutic regimens have been used, the incidence of fetal growth retardation varies between 30 and 60 per cent of reported cases. We report the evolution of fetal growth in patients with antiphospholipid antibody syndrome treated with high‐dose intravenous immunoglobulins (IVIG). Fourteen patients with a history of recurrent spontaneous abortion and immunological diagnosis of antiphospholipid syndrome were followed longitudinally. Intravenous immunoglobulin at a dose of 0.5 g/kg body weight for two consecutive days was started from the fifth week of pregnancy and repeated every 4 weeks until the 33rd week of gestation. Fetal biometry was evaluated longitudinally from the appearance of the gestational sac at 4 weekly intervals. In the period between 26 and 34 weeks, the frequency of evaluation was increased to every 14 days. Data obtained were compared with a control group of 70 fetuses with uneventful pregnancies matched for gestational age. Neonatal weight is shown in relation to the centiles for the normal population. One patient out of 14 (7.1 per cent) developed gestational hypertension and abruptio placentae. No other pregnancy complications were seen. No proteinuria was found. The mean maternal age was 31.2±3.8 years. Median birth weight was 3433 g±287. The median centile of the birth weight was 65.3±18.6. Mean gestational age at delivery was 1.3 weeks. No fetal or neonatal growth retardation was seen. No significant differences were found in the biometrical parameters investigated in the various gestational ages vs. the control group (Student's t‐test not significant); a significant increase in head circumference (P< 0.001) and abdominal circumference (P< 0.05) was found at 36–37 weeks gestational age in the IVIG‐treated fetuses. The presence of antiphospholipid antibodies is considered detrimental for pregnancy outcome because of their negative effects on placental vascular perfusion and fetal transfer of metabolites. The use of IVIG seems to avoid or inhibit the reduced availability of nutrients for the fetal anabolic functions, as the expected reduction in fetal growth was not seen in our series.
Potter's syndrome in the second trimester—prenatal screening and pathological findings in 60 cases of oligohydramnios sequence
Authors: Scott R. J. , Goodburn S. F. 
Published: March 2007

AbstractFifty‐two second‐trimester and eight third‐trimester (>28/40) autopsies with clinical or pathological evidence of oligohydramnios sequence (“Potter's syndrome”) were reviewed. Twenty‐eight cases had renal anomalies (71 per cent in terminations following prenatal ultrasound), 27 had no renal malformation (35 per cent with chorioamnionitis), and five had external assessments only. In 15 cases, the renal lesion was part of a multiple malformation syndrome. Seven cases had a lesion which either recurred in a sibling in the same family or was a recognized autosomal recessive syndrome. Three cases had an abnormal karyotype, two of which had renal anomalies. Maternal serum alpha‐fetoprotein (AFP) did not discriminate between cases with renal malformations and those without. Pulmonary hypoplasia was commoner in third‐trimester than in second‐trimester cases. External appearance and absent umbilical artery were not reliable predictors of underlying internal anomalies. These findings reflect the shift from postnatal to prenatal diagnosis in modern practice. In this series, mainly second‐trimester cases, 50 per cent of cases had no malformations, in a condition which is traditionally associated with renal disease. The high incidence of chorioamnionitis suggests that the mechanism of oligohydramnios is occult amniotic fluid leakage. Prenatal diagnosis of oligohydramnios in the second trimester is dependent on ultrasound scanning and a full post‐mortem examination is necessary to identify any underlying fetal cause.
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters
Authors: Kleijer W. J. , Van Der Kraan M. , Huijmans J. G. M. , Van Den Heuvel C. M. M. , Jakobs C. 
Published: March 2007

AbstractIsovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3‐hydroxyisovaleric acid in urine and by the deficiency of incorporation of radiolabel from [14C]isovaleric acid in macromolecules in cultured fibroblasts. This paper reports a consecutive series of 24 prenatal diagnoses in pregnancies at high risk, using both methods‐metabolite and indirect enzyme assay. Affected fetuses were diagnosed in four pregnancies: three in the second trimester and one recent case in the first trimester. The latter represents the first reported case of a first‐trimester diagnosis of IVA by direct analysis of chorionic villi. We also report the first demonstration of strongly accumulated IVG in the amniotic fluid in the 12th week of an affected pregnancy.
Social and geographical inequalities in prenatal care in Italy
Authors: Corchia Carlo , Mastroiacovo Pierpaolo , Lanni Roberta , Grimaldi Valentina , Scarano Gioacchino , Baronciani Dante 
Published: March 2007

AbstractThe purpose of this study was to find out possible differences in prenatal diagnosis (PD) by amniocentesis or chorionic villus sampling and ultrasound examination before 16 weeks' gestation (early ultrasound examination, EUE), according to area of residence and level of education of the mothers. Data come from a multicentre study in Italy involving 43 maternity hospitals (Mercurio project) and were collected through structured interviews a few days after delivery. Study subjects were 1541 mothers of single non‐malformed infants born between April 1992 and March 1994. Overall, the incidence of PD and EUE was 5.8 and 80 per cent, respectively. After adjustment for maternal age and other possible confounders, the odds ratios for PD were 2.19 (95 per cent confidence interval (CI)=1.26–3.81) when women residing in the northern regions were compared with those residing in the southern regions, and 2.06 (95 per cent CI=1.12–3.79) and 4.08 (95 per cent CI=1.97–8.42) when women with medium and high levels of education were compared with those with low level. For EUE, the odds ratios were 1.77 (95 per cent CI=1.32–2.36) and 2.88 (95 per cent CI=1.56–5.29) when comparing women with medium and high levels of education with those with low level. No relationship was found between area of residence and EUE. These geographical and social inequalities in prenatal care in Italy should be taken into account for the organization, delivery, and evaluation of pregnancy services in the coming years.
Chorionic villus sampling by biopsy forceps. Results of 1580 procedures from a single centre
Authors: Fortuny A. , Borrell A. , Soler A. , Casals E. , Costa D. , Carrio A. , Puerto B. , Seres A. , Cararach J. , Delgado R. 
Published: March 2007

AbstractThe results of a prospective series of 1580 chorionic villus sampling (CVS) procedures using biopsy forceps are presented. Most of the procedures (1442), including 11 sets of twins, were performed by the transcervical approach (TC‐CVS), using a curved‐shank thin forceps, and 138 by the transabdominal approach (TA‐CVS), using a trocar‐guided straight thin forceps. The mean gestational age for TC‐CVS was 10.9 weeks, and in 233 cases (16 per cent) the procedure was carried out between the 12th and 14th weeks. The mean gestational age for TA‐CVS was 16.7 weeks. The major indication for CVS was advanced maternal age (92.7 per cent in the TC and 91.8 per cent in the TA approach), and indications for abnormal ultrasound findings were more common in the TA approach (4.5 per cent) than in TC‐CVS (0.07 per cent). Although sampling was apparently accomplished in all the procedures, in 3.1 per cent of the TC‐CVS and 2.2 per cent of TA‐CVS procedures, the samples were less than 1 mg after dissection. A cytogenic report was obtained in 96.1 per cent of the TC‐CVS and 90.6 per cent of the TA‐CVS. Maternal serum alpha‐fetoprotein (MSAFP) was measured before and after TC‐CVS and the post‐CVS MSAFP was positively correlated with the sample weight. Second‐trimester amniocentesis following CVS was required in 5.2 per cent (TC‐CVS) and 6.5 per cent (TA‐CVS), due to the failure to obtain a cytogenetic report or diagnostic confirmation. The follow‐up to the 20th week was 100 per cent by ultrasound scan, and 88.6 per cent from the 21st week to 1 week after delivery. Fetal loss rates within 2 weeks of the procedure were 1.7 per cent (TC‐CVS) and 0.8 per cent (TA‐CVS) and total fetal loss accumulated to 1 week after delivery was 4.6 per cent (TC‐CVS) and 5.9 per cent (TA‐CVS). Factors found to increase significantly fetal loss in the TC‐CVS series were maternal age and the collection of very small samples, but not the number of forceps insertions.
Prenatal diagnosis of friedreich ataxia: Improved accuracy by using new genetic flanking markers
Authors: Monros E. , Smeyers P. , Ramos M. A. , Prieto F. , Palau F. 
Published: March 2007

AbstractFriedreich ataxia is a neurodegerative disorder with autosomal recessive inheritance. Since the gene causing mutation has not yet been identified, prenatal, predictive, and carrier diagnoses are based on indirect haplotype analysis with closely linked markers. Until recently, only distal markers were available and their physical distance to the Friedreich ataxia (FRDA) gene remained elusive. The identification of close flanking markers that mark out the boundaries of the FRDA locus and reduce the critical genomic region which contains the gene allows for the first time misdiagnosis due to undetectable recombination to be avoided and diagnosis accuracy to be greatly improved. In this sense, we have verified a prenatal diagnosis in which the fetus was diagnosed as an unaffected carrier last year with a confidence of 95 per cent. By using the new flanking markers, the diagnosis improved and confidence reached almost 100 per cent.