Amniocentesis

Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling

H. G. Zhang, Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., Liu, R. Z., Zhang, H. G., Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., and Liu, R. Z., Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling, vol. 15, p. -, 2016.

Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases.

Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases

N. An, Li, L. L., Wang, R. X., Yue, J. M., and Liu, R. Z., Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases, vol. 14, pp. 15660-15667, 2015.

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serum-screening test (69.56%), followed by advanced maternal age (15.04%).

Result and pedigree analysis of spontaneously abortion villus chromosome detecting by FISH

N. An, Li, L. - L., Zhang, X. - Y., Sun, W. - T., Liu, M. - H., and Liu, R. - Z., Result and pedigree analysis of spontaneously abortion villus chromosome detecting by FISH, vol. 14, pp. 16662-16666, 2015.

The aim of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and to provide a basis for clinical diagnosis and therapy in Northeast China. A total of 144 spontaneously aborted fetuses were analyzed by FISH to test for chromosome number and to recall couples for peripheral blood karyotype analysis. The rate of abnormal chorionic villus chromosomes was 35.42%. Villus chromosome abnormality rate of the first spontaneous abortion and repeated abortions were 40.54 and 33.64%, respectively (P < 0.05).

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