Table 3.

Available options for individuals at different stages of testing.

Population screening including newborn screening and screening of school children Carrier identified. Counselled not to marry another carrier. Knowledge and distinguishing of the fetus condition. Prenatal screening and choice of partners Premarital screening If both parents are carriers: — look for non- carrier partners — If decide to go ahead with marriage, available options include: Not having children Limiting family size Waiting till appropriate method for control & prevention is available. Having family as usual. If one is carrier and the other is normal: — go ahead with marriage but screen offspring. Postmarital screening Already married couples at risk of having an affected child (i.e. are carriers, have an affected child or disease in family. — No more children — Marry a non- carrier partner — Keep the first wife, and marry a non – carrier partner — Continue to have children and take chance — Pre- implantation diagnosis with in vitro fertilization (IVF).