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121.
Dr. R. J. A. Wanders R. B. H. Schutgens H. van den Bosch J. M. Tager W. J. Kleijer 《黑龙江环境通报》1991,11(4):253-261
In recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal β-oxidation of very-long-chain fatty acids. In general, these disorders are associated with severe neurological and physical abnormalities and death within the first years of life. In this paper we describe our experience with regard to the prenatal diagnosis of a number of different inborn errors of peroxisomal β-oxidation. Eleven pregnancies at risk were monitored by measuring very-long-chain fatty acid levels as well as very-long-chain fatty acid β-oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells. Five affected fetuses were identified. It is concluded that prenatal diagnosis in this group of diseases can be done reliably using cultured chorionic villous fibroblasts or amniotic fluid cells. 相似文献
122.
Dr. Michael J. McCormack Margaret E. Rylance William E. Mackenzie John Newton 《黑龙江环境通报》1990,10(4):253-255
The attitudes of 190 patients who had undergone chorionic villus sampling (CVS) were assessed by means of a questionnaire. One hundred and fifty-two patients replied of whom 68 (45 per cent) were referred because of increased maternal age and in the other 84 cases the indications included previous chromosomal abnormalities, fetal sexing, DNA analysis, and biochemical analysis. One hundred and twenty-two patients had a transcervical procedure, 24 had a transabdominal, and six patients required both procedures. One hundred and forty-one patients (93 per cent) reported CVS to be a satisfactory procedure, and the same percentage thought earlier diagnosis was beneficial. Thirty-nine patients (81 per cent) reported a better experience with CVS than with a previous amniocentesis. A majority of patients (93 per cent) wished a CVS in a future pregnancy and 137 patients (97 per cent) would accept a risk of miscarriage from the procedure of twice that quoted for amniocentesis (1 per cent). 相似文献
123.
Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17·6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number 12 chromosome. Pathological examination of the fetus did not reveal significant physical abnormalities. This report illustrates the difficulty of confirming trisomy 12 mosaicism which has been detected on prenatal diagnosis. The presence of trisomy 12 in one placental cell obtained from the curettage specimen suggests the possibility of confined placental mosaicism in this case. 相似文献
124.
Dr Alan E. Donnenfeld Larry R. Glazerman Denise M. Cutillo Ronald J. Librizzi Stuart Weiner 《黑龙江环境通报》1989,9(5):301-308
Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography. 相似文献
125.
Dr. C. Dawn DeLozier-Blanchet Eric Engel Philippe Extermann Béatrice Pastori 《黑龙江环境通报》1988,8(4):281-286
Cytogenetic study of chorionic villi sampled because of advanced maternal age revealed, after overnight culture, an apparently non-mosaic trisomy 7. Amniocentesis showed exclusively normal mitoses, and the pregnancy continued normally. One hundred mitoses from cord blood of the normal newborn revealed a non-mosaic 46,XX complement. No cells with a proven trisomy 7 were found in cultures from either of two biopsies of the morphologically normal placenta, but the peripheral biopsy showed in multiple cultures an abnormal clone: 47,XX, + 20,-2,-21, + t(2;21)(p13;q22). To our knowledge, this is the first case of non-mosaic trisomy 7 detected on CVS which has had follow-up studies of amniotic fluid, cord blood, and term placenta. 相似文献
126.
127.
The prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling. 相似文献
128.
Fibroblasts 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. 相似文献
129.
M. R. Verschraegen-Spae N. Van Roy A. De Perdigo A. De Paepe F. Speleman 《黑龙江环境通报》1993,13(5):385-394
The nature and origin of two de novo small marker chromosomes found at prenatal diagnosis were determined by fluorescence in situ hybridization using chromosome centromere-specific probes and chromosome-specific plasmid libraries. One marker was found in a mosaic state and was shown to be an i(18p). The second marker was characterized as an inv dup(22). We conclude that molecular cytogenetic analysis contributes to the identification of marker chromosomes and therefore facilitates genetic counselling and decision-making for the parents. 相似文献
130.
Dr Claire Julian-Reynier Genevieve Macquart-Moulin Jean-Paul Moatti Anderson Loundou Yvette Aurran Françoise Chabal Ségolene Aymé 《黑龙江环境通报》1993,13(7):613-627
The objective of this study was to explore women's attitudes towards prenatal diagnosis of trisomy 21 and to examine some of the factors possibly responsible for these attitudes before implementing in real practice serological screening of pregnant women at risk for trisomy 21. We carried out a telephone survey on a representative sample of women who had recently had a normal livebirth delivery in the Marseille district in 1990. The participation rate was 80 per cent and the average age of the mothers was 28-9 years. Among the 514 women interviewed, 78 per cent stated that they would ask for an amniocentesis for a 1 per cent risk of trisomy 21 at their next pregnancy. When adjusting for confounding factors, the decision to have or not to have an amniocentesis was found to depend not only on the women's attitude towards induced abortion, but also on their understanding of the risk involved and on the social context (knowing a handicapped child, discussion with the father). It also depended on the women's age and on what they knew about amniocentesis from the medical point of view. The risk of miscarriage can influence a woman's choice but this objection was not found to affect the women's decisions significantly in our survey. The data showed the existence of a high potential demand for fetal karyotyping. 相似文献