Screening for thalassemia: a model of success.
Obstet Gynecol Clin North Am
; 29(2): 305-28, vi-vii, 2002 Jun.
Article
em En
| MEDLINE
| ID: mdl-12108831
ABSTRACT
Programs of prospective carrier screening and genetic counseling for beta-thalassemia among couples planning marriage, preconception, or during early pregnancy are ongoing in several at-risk populations in the Mediterranean area, including Greeks, Greek Cypriots and Continental Italians. Carrier detection is carried out by haematological analysis followed by mutation detection by DNA analysis. Once carrier couples are identified, prenatal diagnosis is accomplished by mutation analysis on PCR amplified DNA from chorionic villi. These programs have been very effective, due to education programs and subsequent acceptance of screening. Future prospects include automation of the process of mutation detection by microchips analysis, introduction of preconception and preimplantation diagnosis and hopefully fetal diagnosis by analysis of fetal cells in maternal circulation.
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Bases de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Testes Genéticos
/
Talassemia beta
/
Heterozigoto
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Pregnancy
País/Região como assunto:
Europa
Idioma:
En
Revista:
Obstet Gynecol Clin North Am
Assunto da revista:
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Itália