The prediction of recurrence risk of the problem – This is very important for most families so that they can decide whether to try for further pregnancies and what methods to adopt for the achievement of a successful pregnancy. There are different modes / patterns of inheritance (autosomal dominant, autosomal recessive, sex-linked, mitochondrial, etc). So depending on step 1 and 2, the specialist can predict the chances of the condition happening again. In some cases, the condition needs the use of complex technology to achieve a successful pregnancy, while in most cases, this is not necessary.
Prenatal Diagnosis – Most conditions can be detected by procedures carried out early in the pregnancy (by 11-12 weeks) so that the diagnosis can be made early in the pregnancy. This allows sufficient time for decisions to be taken by the family regarding continuation / termination of pregnancy.
However, some syndromes may need to be detected by detailed ultrasound scanning as the genetic mutation /basis may not have been detected.
You need to be referred to a Fetal Medicine Specialist who can guide you through the above steps and check whether all these have been followed correctly. The most important steps are 1 and 2.