Genetic and Clinical Features of Triploid Fetus: A Case Report in Han Chinese Population.

Triploidy is characterized by the presence of an additional set of chromosome in organisms. It has been proved lethal for humans' fetus and causing abortion at last trimester of pregnancy. Some of the triploidy neonates can survive up to several weeks with several physical and mental abnormalities. In current study we enrolled a 27-year-old pregnant woman for genetic counseling with a suspect of Edwards syndrome (trisomy 18) at her gestation period of 16 weeks, GTG-banded metaphase analysis revealed a karyotype of 69 XXX. Microsatellite based genotyping of fetus and parents revealed that triploidy is initiated during meiosis-I and inherited from mother. Therefore, we suggest that the diagnosis of triploidy should be performed at early stage of gestation to avoid the complication at late stages of pregnancy. [ABSTRACT FROM AUTHOR]