After the family’s admission, Medical Genetic specialist gets the family history, draws the pedigree and performs the physical xxam . Dependig on the findings, a preliminary diagnosis/ differential diagnosis is established and diagnostic tests are requensted. After the resuşts are available family gets the genetic counseling for the established diagnosis.

Genetic counseling provides risk assessment to individuals and their relatives with a known hereditary disease. It also provides clinical information about the disease and its possible outcome.

Indications for Genetic Counseling;

1. Patient known to have an inherited disease
2. Family history of an inherited disease and risk of being a carrier
3. History of children with inherited disease
4. Repeated pregnancy losses
5. Advanced maternal age (>35)
6. Consangineous marriages
7. Infertility
8. Abnormal Ultrasound during the pregnancy
9. Exposure to medications and teratogennic agents durnig the pregnancy

Prenatal Diagnosis indications:

1. Maternal age over 35 ( Fetal chromosome analysis is indicated).
2. History of Chromosomal disorder in the previous chld ( Fetal chromosome analysis is indicated).
3. Patient or spouse with a balanced chromosomal disrder ( Fetal chromosome analysis is indicated).
4. History of rare gebetic disease in one of the children ( Biocehmical test or mutation analysis)
5. History of neural tube defect in the previous child (anencephaly, meningocele, encephalocele etc) (Patient should receive at least 3 months of folic acid prior to the new pregnancy and the pregnancy is followed by AFP levels and ultrasounds)
6. If both parents are known carriers for some common genetic diseases (such as Thalasemia, Phenylketonuria, Cystic Fibrosis, Duchenne Muscle Dystrophy, Sickle cell anemia, Fragile X Syndrome, etc,) fetal DNA testing may be indicated
7. Abnormal triple screening for Down Syndrme etc ( Fetal chromosome analysis is indicated)
8. Abnormal Fetal Ultrasound exam( Fetal chromosome analysis and biochemical tests maybe indicated)