排序方式: 共有256条查询结果,搜索用时 328 毫秒
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R. Saura W. Traore L. Taine Z. Q. Wen D. Roux B. Maugey-Laulom M. Ruffie A. Vergnaud J. Horovitz 《黑龙江环境通报》1995,15(7):609-614
Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed. 相似文献
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Farideh Z. Bischoff Julie Zenger-Hain David Moses Daniel L. van Dyke Lisa G. Shaffer PhD 《黑龙江环境通报》1995,15(11):1017-1026
Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism. 相似文献
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Dr. Roland Zimmermann Urs Lauper Anja Streicher Renate Huch Albert Hugh 《黑龙江环境通报》1995,15(12):1121-1124
In a series of 2961 consecutive cases with second-trimester biochemical triple screening for Down's syndrome and neural tube defect (NTD), ten (0.3 per cent) showed an apparent increased risk for both conditions. Three cases had chromosomal abnormalities, namely trisomy 16 confined to the placenta. Since placental trisomy 16 as well as cases with increased alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) are associated with (intrauterine growth retardation (IUGR), oligohydramnios, and fetal demise, at least some cases with this atypical biochemical profile could be explained by this chromosomal abnormality. From our results we recommend that in cases with increased risk for both Down's syndrome and NTD, fetal karyotyping should preferably be done on a placental biopsy, especially when ultrasound in the absence of anomalies demonstrates early IUGR. 相似文献
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Min Hoan Moon Jeong Yeon Cho Yu Mi Lee Sung Il Jung Jae Hyug Yang Moon Young Kim Hyun-Mee Ryu Jin Hoon Chung Seong Ho Park 《黑龙江环境通报》2007,27(9):830-834
Objectives The aim of this study was to evaluate the role of nasal bone assessment in first-trimester screening for Down syndrome (DS) in the Korean population. Methods From July 2004 to March 2006, we prospectively evaluated the fetal nasal bones at 11–14 weeks' gestation in the Korean population. Results A successful evaluation was possible in 6490 of 6787 fetuses (95.6%). Absent, hypoechoic, and short nasal bones were seen in 4 (26.7%), 4 (26.7%), and 1 (6.7%) of 15 fetuses with DS, respectively, whereas in 5 (0.1%), 11 (0.2%), and 246 (3.8%) of 6456 normal fetuses. The incidence of absent and hypoechoic nasal bone showed significant differences between normal fetuses and fetuses with DS (P < 0.0005, both). Screening for DS using an absent or hypoechoic nasal bone resulted in a sensitivity of 53.3%, a specificity of 99.8%, a positive likelihood ratio of 215.2, and a negative likelihood ratio of 0.5. Conclusion Our study showed that nasal bone abnormality at 11–14 weeks of gestation had a high association with DS in the Korean population. This suggests that nasal bone assessment can be used to supplement the current first-trimester screening for DS in the Korean population. Copyright © 2007 John Wiley & Sons, Ltd. 相似文献
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Karen Filkins M.D. F.A.C.O.G. Joseph Russo Thomas Brown Susan Schmerler Bernard Searle 《黑龙江环境通报》1984,4(3):223-226
Thirty-one genetic amniocenteses involving multiple gestations were performed in the genetics unit between 1976 and 1982. Three sets of triplets were included. Precise locations of the sacs were determined using real-time ultrasonography and successful sampling of all sacs was accomplished. Spontaneous abortions occurred in two normal twins and one normal triplet gestation. Two therapeutic abortions were performed for fetal abnormalities. Two cases of discordance for trisomy 21 (one twin and one triplet) were allowed to continue; the twin case terminated at 25 weeks' gestation with neonatal deaths and the triplets are alive and well. 相似文献
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Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed. 相似文献
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Flow cytometry was used to enumerate the lymphocyte subpopulations in fetal blood obtained by cordocentesis from eight trisomy 18 fetuses at 20–36 weeks' gestation. Compared with values in chromosomally normal fetuses, in trisomy 18 the mean T- and natural killer (NK) cell counts were significantly lower (t= − 7·63, P<0·001 and t= − 3·58, P<0·01, respectively); the mean B-cell count was not significantly different (t= − 1·32). These findings demonstrate that in trisomy 18 there is abnormal intrauterine development of the immune system. 相似文献