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711.
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Uterine lavage affords the potential for non-invasive human blastocyst recovery, with obvious potential for preimplantation genetic diagnosis. In an effort to duplicate in women the multiple blastocyst recovery per cycle that can be achieved in several other species, we initiated a programme in which fertile women underwent superovulation, followed by lavage and embryo collection. We superovulated 15 fertile women, aged 21–40, in 29 cycles using one of four regimens. Insemination was by either intercourse or artificial intracervical donor insemination with cryopreserved sperm from men of proven fertility. In 28 of 29 cycles, the uterus was lavaged daily for 1, 2, or 3 days between 5 and 10 days after human chorionic gonadotropin (hCG) administration or luteinizing hormone (LH) surge. Almost total fluid volume was recovered in every lavage. There were no retained pregnancies and no complications. Surprisingly, only two morulae, one blastocyst, and four unfertilized ova were recovered. Thus, alterations in ovulation induction, insemination timing, or lavage techniques must be contemplated in order to increase the blastocyst yield and thus fulfil the potential of uterine lavage for preimplantation diagnosis.  相似文献   
714.
The natural desire for couples to be parents and the medical practitioner's inability to treat most genetic diseases have been responsible for some of the most exciting research into infertility and genetic disorders. This has led in the United Kingdom to the establishment of the Warnock Committee of Inquiry into Human Fertilization and its report in 1984, and to a Review of the guidance on Research Use of Fetuses and Fetal Material published in 1989 and known as the Polkinghorne Report. The Warnock Report, among other ethical issues, considers the most fundamental question which has been debated for thousands of years, namely, What is life and when does it begin? More recently, the report has been responsible for new legislation which imposes ethical and legal restrictions on the scientific and medical community. The Polkinghorne Report recommends a voluntary code of practice which is morally and ethically acceptable within our society. We are also fortunate in the U.K. to have a parliamentary structure which allows debate on such important human issues and is prepared to impose ethical restrictions.  相似文献   
715.
The de-O-sulphation of α-linked glucosamine-6-sulphate residues in heparan sulphate requires a specific sulphatase, glucosamine-6-sulphatase, which has been shown to be deficient in tissues of Sanfilippo D, or mucopolysaccharidosis type IIID (MPS IIID), patients. MPS IIID fibroblasts cultured in Basal Eagle's medium supplemented with either fetal calf serum or heat-inactivated fetal calf serum, MDCB or Ultraserg media had residual glucosarnine-6-sulphatase activities towards a heparin-derived trisaccharide substrate, O-(α-N-acetylglucosamine-6-sulphate)-(1→4)-L -O-(α-iduronic acid-2-sulphate)-(1→4)-D -O-2,5-anhydro [1-3H]mannitol-6-sulphate, GlcNAc6S-IdoA2S-anM6S, which were less than 1 per cent of the normal range for fibroblasts cultured in Basal Eagle's medium supplemented with fetal calf serum. However, the glucosamine-6-sulphatase activities of MPS IIID fibroblasts grown in Chang's medium were similar to the activities in normal control fibroblasts which were cultured in Basal Eagle's medium. These results indicate that caution is required for prenatal diagnosis of MPS IIID patients using chorionic villi or amniotic cells cultured in Chang's medium.  相似文献   
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We describe our experience of prenatal diagnosis of non-ketotic hyperglycinaemia in four at-risk pregnancies using the glycine/serine ratio in amniotic fluid obtained between 18 and 20 weeks of gestation. All glycine levels were in the normal range. Serine levels were normal in two patients and borderline in the others. Glycine/serine ratios were normal in two patients, moderately increased in one patient ( + 3 SD), and highly increased in one patient ( + 8 SD). All the children were perfectly normal at birth. Because of this false-positive prediction and the false-negative prediction recently reported, we suggest that this unreliable method should not be used.  相似文献   
718.
Dedicated to Prof. Dr. A. Buchs, University of Geneva, on the occasion of his 60th birthday.  相似文献   
719.
This research was supported by a grant from the National Council for Research and Development, Israel, and the KFK, Karlsruhe, Germany.  相似文献   
720.
Cysts of the choroid plexus of the lateral ventricle can be detected in the fetus during routine scanning at 16–18 weeks' gestation with an approximate incident of one in every 120 pregnancies. It is likely that in a high percentage of cases cysts are bilateral and that their recent discovery is mainly due to improvements in imaging technology. Although the great majority of cases resolve and do not result in any morbidity, five cases of trisomy 18 and one case of trisomy 21 associated with fetal choroid plexus cysts have been reported. In this prospective study, choroid plexus cysts were detected in 42 fetuses, resulting in 40 normal infants and 2 cases of trisomy 18. It is concluded that there may be a relationship between fetal choroid plexus cysts and trisomy 18. In order to obtain a more precise and accurate result, a multi-centre prospective study is being organized.  相似文献   
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