The Semmelweis University experience.

Area of Science:

• Medical Genetics
• Obstetrics and Gynecology
• Reproductive Medicine

Background:

• Established expertise in genetic counseling and prenatal diagnosis since 1966.
• Leadership at Semmelweis University's Department of Obstetrics and Gynecology, founding a dedicated prenatal genetics center.
• Experience in managing pregnancies with suspected fetal anomalies, including confirmation, further testing, and pregnancy termination.

Purpose of the Study:

• To describe the establishment and function of a tertiary prenatal genetics center.
• To outline the comprehensive services offered, including diagnostic testing and ethical considerations.
• To emphasize the role of robust databases in evaluating genetic counseling and diagnostic efficacy.

Main Methods:

• Integration of cytogenetic, molecular genetic, fetopathological, and ultrasound laboratories.
• Utilization of an extensive patient database for follow-up and analysis of genetic counseling effectiveness.
• Development and supervision of a national quality assurance system for ultrasound screening.

Main Results:

• A fully equipped tertiary center managing complex pregnancies with fetal anomalies.
• Established a system for investigating the efficiency of genetic counseling and prenatal diagnosis.
• Implemented a national quality assurance program for prenatal ultrasound screening in Hungary.

Conclusions:

• The center provides comprehensive care for pregnancies with suspected fetal anomalies.
• Effective genetic counseling and diagnosis are supported by advanced laboratory facilities and data management.
• A national quality assurance system enhances the reliability of prenatal screening across Hungary.