Placental Trisomy 7: Uniparental Disomy and Genetic Testing

This lecture discusses a real case of placental trisomy 7, where chorionic villi sampling revealed non-mosaic trisomy 7, while amniotic fluid culture showed a normal karyotype. The child exhibited uniparental disomy of chromosome 7, leading to growth issues. The discovery of confined placental mosaicism and the implications of uniparental disomy are explained. Genetic testing methods such as chorionic villus biopsy, amniocentesis, and preimplantation embryo analysis are also covered, highlighting the importance of prenatal genetic screening.