Robertsonian translocations is a structure mutation of chromosome, chromosome producted includes the complete long airm chromatin of the two fusing chromosomes, althought ot lacks at least some of the short arm chromatin, whom carry the chromosome robertsonian translocations is usually normal, but may be unusual for the next generation, so the early detection of fetuses with chromosome robertsonian translocations will help genetic counseling in order to give birth to healthy children. Objectives: To assess the value of prenatal screening tests for the detection of fetal chromosome robertsonian translocations; explore the relationship between chromosomal abnormalities of fetuses with their parents. Subjects: 11 fetuses with chromosome robertsonian translocations of 4014 fetuses were analyzed chromosomes from 2006 to 2012. Results: In the 7/11 robertsonian translocations chromosome fetuses with karyotype were 45 chromosomes (1/7 fetueses brings a reciprocal translocation and robertsonian translocation). 4 fetuses with karyotpe were 46 chromosomes. The fetuses chromosome robertsonian translocations with karyotype 45 chromosomes (balanced structural rearrangements) were diagnosed mainly based on history and maternal serum screening for Down syndrome in high-risk groups. The fetuses with chromosomal robertsonian translocation, karyotype 46 chromosomes (balanced structural rearrangements) were diagnosed based on history and ultrasound. There are 8/11 (72.72 percent) fetuses with chromosome robertsonian translocations derived from a parent. Analysis parents chromosomes should be required when the fetuses brought abnormal structures chromosomes.
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