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排序方式: 共有112条查询结果,搜索用时 15 毫秒
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Professor R. J. Benzie P. Ray D. Thompson A. G. W. Hunter B. Iwey L. Salvador 《黑龙江环境通报》1994,14(4):235-238
A fetal thigh muscle biopsy was performed at 18 weeks and 6 days' gestation using an automatic 18-gauge biopsy needle. A positive immunoreaction with antisera to the amino- and carboxy-terminals of dystrophin excluded Duchenne muscular dystrophy from this at-risk male. 相似文献
45.
Professor Pierpaolo Mastroiacovo Alberto Eugenio Tozzi Silvano Agosti Giancarlo Bocchino Luciano Bovicelli Leda Dalprà Laura Doria Laba Carbone Mario Lituania Angelica Luttichau Franco Mantegazza Gianfranco Nocera Antonio Pachi Ubaldo Passamonti Giuseppe Piombo Anna Franca Vasta 《黑龙江环境通报》1993,13(11):1051-1056
A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2·9/1000 for CVS performed at 9 weeks' gestation and 1·0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained. 相似文献
46.
An ultrasound examination at 17 weeks gestation on a woman with a family history of spina bifida suggested that the fetus had a closed encephalocele. Amniotic fluid alphafetoprotein, rapidly adhering cells and acetylcholinesterase gel electrophoresis were normal. The pregnancy was terminated and the fetus was found to have a large cystic hygroma. It is suggested that in counselling parents of an infant or fetus with a cystic hygroma and with a normal chromosome constitution, ultrasound examination in future pregnancies is advisable, because of the possibility of autosomal recessive inheritance. 相似文献
47.
Professor A. Pachí E. Maggi A. Giancotti S. Forleo G. Torregrossa M. Roggini C. Bosman 《黑龙江环境通报》1992,12(6):535-539
Diastematomyelia is a structural anomaly which concerns primarily the spine and secondarily the nervous structures contained in it. A case of early prenatal diagnosis (20th week) by ultrasound of diastematomyelia with associated diplomyelia in a diabetic woman is reported. Radiological and pathological examination of the fetus after therapeutic abortion confirmed the diagnosis. 相似文献
48.
C. Rosatelli F. Schettini G. Monni T. Tuveri M. T. Scalas A. Di Tucci G. B. Leoni Professor A. Cao 《黑龙江环境通报》1988,8(5):393-397
This report describes a couple at risk for β thalassaemia in which one spouse was heterozygous for classical high Hb A2 β-thalassaemia while the other had the compound heterozygous state for β+-thalassaemia and a β-chain variant. This variant comigrates on carboxymethyl-cellulose columns (CMC) with γ-chains, indicating that globin separation on CMC columns could not have been used for fetal diagnosis. The β-chain variant migrates separately from the other globin chains on HPLC and the respective abnormal haemoglobin can be separated by isoelectrofocusing. Oligonucleotide hybridization showed that both parents were carriers of the β+ IVS-1, nt 6 mutation. Prenatal diagnosis was successfully accomplished by oligo-nucleotide analysis on trophoblast DNA. This case indicates that an Antenatal Service should have alternative methods to CMC columns so as to carry out prenatal diagnosis of β-thalassaemia in uncommon cases. 相似文献
49.
Baskaran Thilaganathan Nilaofer J. Meher-Homji Professor Kypros H. Nicolaides 《黑龙江环境通报》1995,15(7):605-608
Maternal and fetal platelet size and glycoprotein expression were measured in 14 pregnancies complicated by fetal aneuploidy between 20 and 24 weeks' gestation. Flow cytometry was used to determine platelet size and surface glycoprotein Ib (GPIb) and GPIIIa expression both before and after stimulation with adenosine diphosphate (ADP). The data were compared with results obtained from 35 normal paired maternal and fetal controls. In fetuses affected with trisomies 18 and 13, but not trisomy 21, the maternal and fetal platelet sizes were significantly higher than those of the normal controls. Furthermore, the increase in fetal platelet size was significantly associated with the increase in maternal platelet size. Increase in maternal platelet size may be of potential value as a marker for fetal trisomies 18 and 13. 相似文献
50.
P. M. Grosheide H. W. P. Quartero Professor Dr S. W. Schalm R. A. Heijtink G. C. M. L. Christiaens 《黑龙江环境通报》1994,14(7):553-558
From 1982 to 1989, pregnant women in two large city hospitals in The Netherlands had serum samples screened for hepatitis B surface antigen (HBsAg). Infants of mothers found to be HBsAg-positive received hepatitis B immune globulin immediately after birth and hepatitis B vaccine in the first year of life. Blood samples of infants were regularly tested for HBsAg and antibodies directed against HBsAg. A retrospective analysis of the pregnancy outcome in HBsAg-positive women who had invasive tests for prenatal diagnosis was carried out to determine whether amniocentesis and chorionic villus sampling (CVS) are risk factors for the intrauterine transmission of the hepatitis B virus. Amniocentesis was carried out in 17 HBsAg-positive women and CVS in one case. Only two women were HBsAg- and HBeAg-positive. Prenatal diagnosis led to the termination of pregnancy for fetal chromosome abnormality in three cases. The remaining 15 pregnancies were uneventful; all infants were negative for HBsAg and developed an active immune response to the vaccine. These data suggest that amniocentesis in HBsAg-positive women constitutes a low risk for the intrauterine transmission of the hepatitis B virus, but definite conclusions in HBeAg-positive women cannot be drawn. 相似文献