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Prenatal diagnosis in Portugal
M Rodrigues Pinto1, A M Tavares Fortuna
1Instituto Genetica Medica, Porto, Portugal.
European Journal of Human Genetics : EJHG
|January 1, 1997
Summary
Prenatal diagnosis in Portugal, initiated in 1984, faces challenges in high-risk pregnancy coverage and general population screening. Factors include service planning, ultrasound standards, limited cytogenetics labs, and insufficient genetic counselors.
Area of Science:
- Medical Genetics
- Public Health
- Obstetrics
Background:
- Prenatal diagnosis (PND) services in Portugal commenced in 1984 following the Abortion Act.
- Demand for PND has grown, yet coverage for high-risk pregnancies and general population screening remains suboptimal.
Purpose of the Study:
- To evaluate the current state of prenatal diagnosis services in Portugal.
- To identify barriers hindering optimal PND coverage and screening for fetal abnormalities.
Main Methods:
- Analysis of service planning and resource allocation for PND.
- Assessment of ultrasound scan quality in low-risk pregnancies.
- Review of cytogenetics laboratory capacity and genetic counseling availability.
- Examination of legislative constraints on pregnancy termination for fetal malformations.
Main Results:
- Suboptimal coverage of high-risk pregnancies and general population screening for fetal abnormalities.
- Challenges identified include inadequate service planning, low ultrasound standards, limited public cytogenetics laboratories, scarcity of genetic counselors, and a restrictive 16-week termination limit.
Conclusions:
- Significant improvements are needed in PND service planning, infrastructure, and personnel to meet desirable coverage levels.
- Legislative and logistical barriers require addressing to enhance fetal abnormality screening and management in Portugal.