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251.
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
252.
Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change. 相似文献
253.
Ellen Sidransky Susan H. Black Dawn M. Soenksen Shirley L. Jones Andrew D. Dorfmann Joseph D. Schulman MD 《黑龙江环境通报》1990,10(9):583-586
Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling. 相似文献
254.
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
255.
This paper reports results of an exploratory study of prenatal diagnosis patients who experienced voluntary terminations of pregnancy following the detection of an abnormality or spontaneous miscarriages. The 121 participants were part of the national collaborative Chorionic Villus Sampling and Amniocentesis Study. They completed semi-structured telephone interviews and mailed questionnaires at 1 month and 6 months after the pregnancy losses. Scores on the Profile of Mood States showed that mood levels improved significantly over time. However, there were some declines in loss-related support from partners and others. The persisting distress and difficulties of a minority highlight the variability in women's responses to pregnancy losses. Women who lost pregnancies later in gestation, showed the greatest mood disturbances at initial assessments, used professional mental health assistance after the loss, or reported less satisfactory loss-related support from significant others showed the greatest levels of mood disturbance at the six-month assessment. Follow-up contacts with patients who lose pregnancies should be used to inform women about the variation in possible grief reactions, to assess the extent of support the women are receiving from their partners and significant others, and to provide additional follow-up or referral of those experiencing the greatest distress. 相似文献
256.
M. L. Smith O. L. Pellett M. M. J. Cass N. G. Kennaway N. R. M. Buist J. Buckmaster M. Golbus G. S. Spear J. A. Schneider 《黑龙江环境通报》1987,7(1):23-26
The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus. 相似文献
257.
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
258.
Plasticity of honeybee castes 总被引:1,自引:0,他引:1
259.
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
260.
Prenatal real-time ultrasonographic diagnosis of microphthalmia is presented. Diagnosis was made at 18 weeks' gestation in a fetus of a patient with a previous infant affected with the syndrome of cryptophthalmia with absence of septum nasi and ambiguous genitalia (Fraser syndrome). Recognition of microphthalmia as a part of Fraser syndrome and the easy visualization of fetal facial bones and orbits in the second trimester made the diagnosis possible. 相似文献