Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba.

Objective: In this paper, we present a descriptive study of the first year of implementation of the predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington disease.

Subjects And Methods: Medical records were retrospectively reviewed from 100 individuals who requested presymptomatic diagnosis. They had been seen between February 2001 and May 2002 at the Ataxia Clinic in the province of Holguín and had completed the protocol.

Primary prevention of neural tube defects with folic acid supplementation: Cuban experience.

Folic acid (5 mg) was given daily, for not less than one menstrual period before conception and until the tenth week of pregnancy, to 81 women (FS) with a history of a previous neural tube defect (NTD) birth. There was no NTD recurrence among this group or among the offspring of a further 20 women (PS) whose folic acid supplementation fell short of the full regime. In another 114 women who became pregnant without folic acid supplementation (US), there were four NTD recurrences (3.

Prenatal diagnosis of neural tube defects by measurement of serum alpha-fetoprotein in Havana City.

Prenatal screening was carried out in Havana City, Cuba, as part of a National Medical Genetics Programme, in order to detect elevated alpha-fetoprotein concentration in maternal serum (MS-AFP). A total of 97,900 pregnant women between 15 and 19 weeks of pregnancy were tested from 1982 to 1985. A double-antibody-sandwich technique was used.

Neural tube defects in Havana City--incidence and prenatal diagnosis.

An evaluation was made of all cases of neural tube defects born in seven gynaecological hospitals and obstetric centres of Havana, between 1970 and 1980. Neural tube defects were recordable from 492 infants out of 319,228 births. The families concerned were briefed in human genetics and informed about the possibility of prenatal diagnosis of anencephaly and bifid spine (spina bifida aperta).