Table 1.
Life stage | Healthcare program |
---|---|
Prenatal | Prevention of sickle‐cell anemia by the detection of carriers and prenatal diagnosis. |
Detection of congenital defects by the quantification of alpha‐fetoprotein in maternal serum. | |
Detection of congenital defects by ultrasound techniques in the 1st, 2nd and 3rd trimesters of pregnancy. | |
Prenatal diagnosis of chromosomal anomalies for pregnancies with increased genetic risk. | |
Neonatal | Neonatal screening of phenylketonuria, galactosemia, biotinidase deficiency, congenital hypothyroidism, congenital adrenal hyperplasia. |
Evaluation of the newborn at birth and in the first three months of life. | |
Postnatal | Clinical diagnosis of genetic diseases. |
Genetic counseling in common diseases. |
Source: Marcheco‐Teruel (2009b). The national program for the diagnosis, managing and prevention of genetic diseases and birth defects in Cuba: 1981–2009. Rev Cubana Genet Comunit. 3(2–3):167–84.