Newborn screening for hemoglobinopathies: the benefit beyond the target

Area of Science:

• Medical Genetics
• Public Health
• Pediatrics

Background:

• New York State's Newborn Screening Program identified 4,565 neonates with trait hemoglobinopathies in 1982.
• 3,200 families were notified of infant screening results in New York City.

Purpose of the Study:

• To evaluate the outcomes of newborn screening for hemoglobinopathies.
• To assess the identification of at-risk couples and affected pregnancies.

Main Methods:

• Analysis of data from the New York State Newborn Screening Program.
• Genetic counseling and testing for families with identified trait hemoglobinopathies.
• Tracking of at-risk pregnancies and interventions such as amniocentesis.

Main Results:

• 1,531 families (2,190 parents) were tested and counseled.
• 22 parents diagnosed with sickle cell disease.
• 39 couples identified as at-risk for having a child with sickle cell disease.
• 14 at-risk pregnant women underwent amniocentesis; 3 of 4 affected pregnancies were terminated.

Conclusions:

• Newborn screening effectively identifies individuals with hemoglobinopathies.
• The program facilitated genetic counseling and identification of at-risk couples.
• Intervention strategies were implemented for at-risk pregnancies.