Related Experiment Videos
Prenatal screening for hemoglobinopathies. I. A prospective regional trial
P T Rowley1, S Loader, C J Sutera
1Department of Medicine, University of Rochester School of Medicine, NY 14642.
American Journal of Human Genetics
|March 1, 1991
Summary
Prenatal hemoglobinopathy screening demonstrated high patient receptivity to genetic information. Pregnant individuals readily utilized genetic counseling and testing, indicating a positive response to unsolicited genetic data in primary care settings.
Area of Science:
- Medical Genetics
- Public Health
- Reproductive Medicine
Background:
- Prenatal screening for hemoglobinopathies offers a model for assessing patient engagement with genetic information.
- Many pregnancies occur without prior awareness of potential risks for serious blood disorders.
Purpose of the Study:
- To evaluate patient receptivity to unsolicited genetic information through prenatal hemoglobinopathy screening.
- To assess the utilization of genetic counseling and testing services by pregnant individuals.
Main Methods:
- Conducted a 5-year prospective study involving 18,907 prenatal hemoglobinopathy screenings in Rochester, NY.
- Offered free testing and genetic counseling to prenatal care patients.
- Tracked patient engagement with counseling, partner testing, and prenatal diagnostic procedures.
Main Results:
- Identified hemoglobinopathies in 4.3% of pregnancies, with sickle cell trait being most common.
- A significant majority of patients (66-80%) were unaware of their diagnosis or risk prior to screening.
- High uptake of genetic counseling (68%) and partner testing (55%) was observed, with 47% of at-risk couples accepting prenatal diagnosis.
Conclusions:
- Unselected pregnant patients in a primary care setting are receptive to and actively utilize unsolicited genetic information.
- Prenatal hemoglobinopathy screening effectively identifies at-risk pregnancies and facilitates informed reproductive choices.
- The study highlights the potential for integrating genetic screening into routine prenatal care to improve health outcomes.