Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these fetuses and their placentas, with the aims to:

1. delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple fetal tissues in fetuses with sex chromosome disorders;
2. identify the epigenetic and genetic mechanisms and placental and fetal alterations that underlie the phenotypic manifestations observed in fetuses with sex chromosome disorders.

Inclusion criteria cases:

• Age ≥18 years
• Fetuses with genetically verified sex chromosome disorders
• Gestational age between 11+0 and 22+6 at the time of abortion or at delivery due to intrauterine fetal death
• Written informed consent

Inclusion criteria cases:

• Age ≥18 years
• No known sex chromosome disorder or other genetic disorder in the fetus
• No known fetal malformations
• Fetal growth within the normal range
• Gestational age between 11+0 and 22+6 at the time of abortion