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31.
32.
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   
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Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.  相似文献   
35.
This paper reports eight cases of non-mosaic, rare, and typically lethal trisomies diagnosed in chorionic villi and not confirmed by amniocentesis. Four cases were 47,XX, + 16; two cases were 47,XX, +2; one was 47,XX, + 12; and one was 47,XY, +7. There have been no known complications in any of these gestations. These eight cases were found in a series of approximately 12 000 samples processed in our laboratory (0.07 per cent). We conclude that (1) rare non-mosaic trisomy not reflecting the fetal condition is an occasional source of diagnostic ambiguity in chorionic villus sampling; and (2) when encountered, a follow-up amniocentesis should be recommended to the patient to confirm or rule out the abnormality. We propose the term ‘confined placental abnormality’ to describe non-mosaic trisomies and other related abnormalities found only in chorionic tissue.  相似文献   
36.
The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.  相似文献   
37.
Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.  相似文献   
38.
Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture.  相似文献   
39.
Field manipulation experiments were performed in the Exe Estuary, south west England, in October 1988, to investigate the importance of the meiofaunamacroinfauna trophic link in benthic trophodynamics. Four hypothetically meiofauna-predacious endobenthic macrofauna species were selected for manipulation using the criteria of high abundance and different modes of feeding: Cerastoderma edule (filter-feeder), Nereis diversicolor (omnivorous scavenger), Ophelia bicornis (sand-ingester), Scrobicularia plana (deposit-feeder). Enclosures constructed from plastic tubing, 63 m nylon monofilament mesh and galvanized steel were deployed, containing adult members of these taxa at densities raised to approximately four times that of the surrounding sediment. The experiments ran for 12 tidal cycles. Differences in phyletic meiofaunal abundance between treatment and control enclosures at the termination of the experiment were assessed using both uni- and multivariate dataanalysis techniques. Only two univariate significant differences (p<0.05) existed for the N. diversicolor treatment and two for the S. plana treatment. Annelida, Turbellaria and copepod nauplii were the only meiofauna taxa affected. No univariate significant differences were recorded for either the C. edule or O. bicornis treatments. Multidimensional scaling ordination of the data revealed no consistent changes in community composition between treatments and controls. It is concluded that the experiments provide evidence of minimal predation by macroinfauna upon meiofauna.  相似文献   
40.
The blowfly Lucilia sericata has been reared on artificial diets containing from 0 to 200 mg Cd kg(-1) at population densities ranging from 8 larvae per 4-g diet to 8 larvae per 32-g diet. Peak larval weight, development period, pupal weight, adult-emergence weight, and fecundity were measured. Larvae of blowflies respond to food deprivation by a reduction in larval weight and subsequent pupal and adult size. Contaminating the food supply with cadmium produced similar additive effects, reduced the growth rate, and increased the age of pupation. The results are of importance in determining the effects of environmental pollutants on population dynamics.  相似文献   
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