How can screening identify some inherited disorders before or shortly after birth?

Screening for inherited disorders can be performed through prenatal diagnosis or mandated newborn screening to enable early intervention and improved health outcomes.12

Prenatal Diagnosis

Prenatal screening is typically offered to individuals with a family history of disease, advanced maternal age, or specific ethnic risk factors. Methods include:1
* Biochemical and Imaging Tests: Maternal serum screening for alpha-fetoprotein can indicate neural tube defects, which are then investigated via ultrasound and amniocentesis.1
* Cell Sampling: Procedures like amniocentesis and chorionic villus sampling allow for chromosomal analysis (karyotyping).1
* Preimplantation Genetic Diagnosis (PGD): Used during in vitro fertilization, PGD analyzes cells from an embryo using techniques like fluorescence in situ hybridization or polymerase chain reaction to detect genetic abnormalities.1

Newborn Screening

Shortly after birth, infants in many developed nations undergo mandated screening, typically via a heel prick blood test. This allows for the early detection of metabolic disorders, such as phenylketonuria, where timely dietary intervention can prevent irreversible damage or intellectual disability. Other conditions, including congenital hearing loss and cystic fibrosis, are also commonly screened to facilitate prompt medical management.23