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1.
Chongqing Medicine ; (36): 813-815, 2015.
Article in Chinese | WPRIM | ID: wpr-462340

ABSTRACT

Objective To evaluate the value of chorionic villus cells karyotype analysis in prenatal diagnosis during the first tri-mester of pregnancy.Methods Pregnant women with prenatal diagnosis indications were punctured by guiding abdominal B-mode ultrasound to get villi tissue which was then to develop cell culture,chromosome preparation and karyotype analysis.Results A to-tal of 1 140 cases were successfully cultured,and the successful cultivating rate was 98.2% (1 140/1 160).Among them,chromo-somes of 62 cases were detected to be non-polymorphic structural abnormalities,including 32 abnormal chromosome number,5 chro-mosome balanced translocation,3 chromosome deletion,and 22 chimeras.What′s more,20 cases were detected to be chromosomal inversion,19 cases of chromosome 9 were inversion,and one with chromosome Y was inversion.Conclusion Karyotype analysis of villus cell could help to detect fetal chromosomal abnormalities during early pregnancy and get early intervention.It was significant to reduce the child′s birth with chromosome abnormalities.

2.
Korean Journal of Obstetrics and Gynecology ; : 248-253, 2000.
Article in Korean | WPRIM | ID: wpr-84909

ABSTRACT

OBJECTIVE: The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy loss, we also attempt the cytogenetic study in product of conception(POC) using chorionic villi or fetal tissue. But the failure of analysis often occurs in direct preparation of villus cells and product of conception(POC). We studied to evaluate the clinical usefulness of FISH in uncultured chorionic villus cells of culture-failed cases. METHODS: According to the patient's indication, we performed FISH for chromosome 18, 21, X and Y in chorionic villi as well as POC and compared FISH results with their chromosomal studies. RESULTS: We found one trisomy 18 and one trisomy 21 in Chorionic Villus Sampling and one trisomy 18 and one monosomy X(45, X) in POC. The averages for accuracy of FISH were 83-91% and all cases are represented consistent results with their chromosomal studies. Among them, we could analyze using FISH only in 5 cases of culture failure including one case of monosomy X in POC. CONCLUSION: We could detect aneuploidy with uncultured chorionic villus cells in case of culture failure, using FISH, it may be the potential method to assist the cytogenetic study.


Subject(s)
Female , Pregnancy , Aneuploidy , Chorion , Chorionic Villi Sampling , Chorionic Villi , Chromosomes, Human, Pair 18 , Cytogenetic Analysis , Cytogenetics , Down Syndrome , Fetus , Monosomy , Trisomy , Turner Syndrome
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