Family issues, carrier tests, and prenatal diagnosis

Abstract

Carrier tests should not be performed in asymptomatic children unless there is a medical consequence of the result for the tested individual in childhood. Standard invasive procedures required for prenatal analysis of inborn errors of metabolism have risk of abortion of 0.5-1%. Chorionic villus biopsy is the method of choice for DNA-based prenatal tests. It can usually be carried out from the 11th to the 12th week of pregnancy onward Preimplantation genetic diagnosis requires in vitro fertilisation and is illegal in many countries. An alternative is polar body analysis, which is more limited in its applications. © 2010 Springer-Verlag Berlin Heidelberg.