Prenatal Diagnosis: advances and prospectives

• Autor(a) principal: Vieira Sanseverino, Maria Teresa
• Data de Publicação: 2022
• Outros Autores: G. Kessler, Rejane, G. Burin, Maira, R. Stein, Nina, F. Herman, Rafaela, Matte, Ursula, M. M. Barrios, Patrícia, A. Magalhães, José
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Clinical and Biomedical Research
• Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/126030
• topic: Diagnóstico pré-natal; aconselhamento genético; cromossomopatias; erros inatos do metabolismo; malformações congênitas; Prenatal diagnosis; genetic counseling; chromosomal anomalies; ; inborn errors of metabolism; congenital malformations

OBJECTIVE: The development of laboratorial techniques for the prenatal diagnosis of genetic diseases was a great step for clinical genetics, changing reproductive perspectives of high risk families. At Hospital de Clínicas de Porto Alegre (HCPA), the prenatal diagnosis program is part of the Fetal Medicine Group, which includes several professionals of different areas. The main objective of this group is to study, evaluate, diagnose and advice high risk pregnant women. The aim of the present study is to review the main procedures for the prenatal diagnosis and to show the results of our sample regarding the laboratory analysis offer to the pregnant women. MATERIALS AND METHODS: From January 1989 to July 2001, karyotypes were performed for 613 pregnancies, metabolic studies were carried out in 86 pregnancies and molecular analysis was performed for four cases. Prenatal genetic counseling was given to 1,378 families. RESULTS: The prenatal diagnosis of genetic diseases accomplished at HCPA reached a culture growth rate of 98%, which is similar to the result of developed countries. CONCLUSIONS: The prenatal diagnosis is an important tool for the families that are likely to have fetal anomalities. New techniques of diagnosis are being introduced at HCPA, and they will contribute even more to the treatmento of these families. Future prospectives and ethical aspects for prenatal diagnosis are also discussed.