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J Chin Med Assoc ; 76(3): 153-7, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23497968

RESUMO

BACKGROUND: Reciprocal translocation is the most common type of translocation; however, there are only a few studies that address the indications for reciprocal translocation in amniocentesis. Here we share our data, based on 30 years' experience in a single tertiary center, to investigate the rates and indications for amniocentesis in cases of reciprocal translocations. METHODS: A retrospective review of 16,749 pregnant women, who underwent midtrimester amniocentesis between January 1981 and December 2010, was conducted. Seventy-four cases of reciprocal translocation were identified. RESULTS: The percentage of reciprocal translocations in all amniocentesis cases was 0.44% (74/16,749); of these 74 cases, 56 were balanced and 18 unbalanced. De novo abnormality occurred in 23 cases, which constituted 31.1% of all reciprocal translocations. The three major indications for amniocentesis with a diagnosis of reciprocal translocation included advanced maternal age (AMA, 52.7%), a parent with an abnormal karyotype (17.6%), and abnormal biochemical markers in the maternal serum (12.2%). For individual types of reciprocal translocations (balanced and unbalanced), except for the presence of abnormal biochemical markers in maternal serum, both AMA and a parent with an abnormal karyotype were primary indications for amniocentesis. However, the highest percentage of reciprocal translocations in all amniocentesis cases was found in cases involving a parent with an abnormal karyotype (5.16%, 13/252). CONCLUSION: Patients with a parent who carries an abnormal karyotype should be encouraged to undergo amniocentesis in prenatal consultation, since the risk of a diagnosis of reciprocal translocation can be particularly high.


Assuntos
Amniocentese , Translocação Genética , Adulto , Feminino , Humanos , Cariótipo , Idade Materna , Gravidez , Estudos Retrospectivos
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