Examples of Conditions Detected by Prenatal Genetic Screening Methods

Table 3.3 Examples of Conditions Detected by Prenatal Genetic Screening Methods Type of Condition Detection Methods Chromosome conditions such as. Trisomies of21, 18, or 13 Primarily by amniocente5is or CVS ll Sex chromosome followmg MSS abnormalities Structural abnormalities Skeletal or developmental conditions such as . . . Neural tube defects Primarily by ultrasound, some are Cleft lip and palate detected by prenatal analysis of Osteogenesis imperfecta DNA following amniocentesis or CVS Genetic Conditions SUCh as. Tay—Sachs disease Detected by preimplantation Cystic fibrosis screening, prenatal biochemical or DNA analysis following amniocen- tesis or CVS, heterozygous carrier screening, some detected by new— born genetic screening Sickle cell disease PKU