Medicina: Ematologia: Talassemie e trapianto del midollo osseo
| English |
| prenatal diagnosis |
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| Attestation |
3
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| Part of speech |
Noun syntagm
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| Grammatical label |
Countable
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| Definition |
Prenatal diagnosis is done by analyzing DNA obtained via chorionic villi sampling at 8-10 weeks of gestation or by amniocentesis at 14-20 weeks of gestation. Since the genetic defects are quite variable, family genotyping usually must be completed for diagnostic linkage (segregation) analysis. With the anticipated availability of large-scale mutation screening by DNA chip technology, extensive pedigree analyses may be obviated. Physicians can perform fetal blood sampling for Hb chain synthesis at 18-22 weeks of gestation, but this procedure is not as reliable as DNA analysis sampling methods.
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| Definition source |
Takeshita, K. (2002). Thalassemia, Beta. E-Medicine. (INTEEN10)
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| Context |
Public health concern about carrier detection and prenatal diagnosis of thalassemia is not only confined to geographic areas with high disease prevalence, but becomes a global issue due to population emigration. Screening for thalassemia in community-based and antenatal programs entail determination of red cell indices, namely MCV and MCH, as the initial step. However, clinical guidelines and practices are variable.
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| Context source |
Ma, ES., et al. (2001). ‘Thalassemia screening based on red cell indices in the Chinese’. Haematologica 86(12):1310-1. (RISCEN20)
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| Subject field |
Haemopoiesis
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| Sub-field (level 1) |
Thalassemias
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| Specific concept |
Chorionic villi DNA analysis, abdominal ultrasonography
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| it |
Diagnosi prenatale
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| Reliability code |
3
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