Genetic counseling prior to Assisted Reproductive Technology procedures in the era of cytogenomics

细胞基因组学时代辅助生殖技术手术前的遗传咨询

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Abstract

The possibility of sequencing hundreds of genes simultaneously and performing molecular karyotyping thanks to the introduction of novel genetic tools has expanded the use of preconception screening for blastocyst recessive mutations and aneuploidies before embryo transfer, with the ultimate purpose of increasing the proportion of normal healthy newborns. Since medically-assisted reproduction procedures are increasingly required to be eugenic, and the aforementioned genetic tests cover only half of the potential genetic diseases occurring at birth, it seems reasonable to incorporate genetic counseling in the practice of assisted reproduction to avoid prosecution for malpractice.

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