Prenatal screening and counseling for genetic disorders

Area of Science:

• Medical Genetics
• Reproductive Medicine
• Public Health

Background:

• Autosomal recessive disorders often go undetected in carriers, leading to unexpected diagnoses in children.
• Despite available screenings for many genetic diseases, parental awareness remains a significant issue.
• Prenatal diagnosis (PD) plays a crucial role in identifying and managing genetic conditions.

Purpose of the Study:

• To report the experience of a Prenatal Diagnosis Center in screening for genetic disorders.
• To discuss the role of screening for beta-thalassemia (BT), cystic fibrosis (CF), and other rare genetic disorders.
• To analyze trends in PD referrals and identify areas for improved genetic counseling.

Main Methods:

• Retrospective analysis of PD indications from January 1993 to May 2013.
• Categorization of couples into high-risk groups for BT, CF, and other rare genetic disorders.
• Review of screening outcomes and referral patterns.

Main Results:

• 1269 PDs for genetic disorders were performed over the study period.
• A significant percentage of couples discovered their carrier status for BT (11.3%) and CF (80.7%) after the birth of an affected child.
• Screening for rare genetic conditions was limited, primarily based on family history.

Conclusions:

• Parental screening for severe genetic diseases is available but underutilized.
• There is an increasing trend in referrals for high-risk indications and rare diseases.
• Effective genetic counseling and continuous updates in screening protocols are essential for managing genetic diseases.