Clinical Genetics & Genetic Counseling

What is involved in Clinical Genetic evaluation

Genetic counseling is a health service that provides information and support to people who have or are at high risk of developing genetic disorders. During genetic counseling, a specialist geneticist meets and discusses with a person or family about the genetic risks, diagnosis, confirmation or exclusion of a genetic disorder. Each genetic counseling session includes:

• Detailed medical history
• Detailed family history
• Thorough physical examination of the patient and possibly his/her relatives
• Combination of all the above information to achieve – if possible – a specific diagnosis, in order to be given a proper Genetic Counseling answering the key questions:
  • What happened;
  • Why did it happen?
  • What is the prognosis?
  • Is there a treatment?
  • Could it happen again?
  • Could it be prevented in subsequent pregnancies?

Answers necessary for the acceptance and acknowledgment of the fact and the realistic repositioning and reorientation of the family.

Congenital abnormalities, psychomotor and physical retardation, autism and reproductive problems are the most common reasons for referral for genetic investigation.

Where there is a clinical indication for Genetic Evaluation and / or Counseling?

Family history of:

• Chromosomal abnormality
• Monogenic disease
• Congenital abnormalities
• Syndromes
• Mental retardation
• Multifactorial diseases

Reproduction problems:

• Infertility
• Multiple miscarriages

Exposure of the fetus in teratogenic (mutagens) factors:

• Medications
• Other chemicals
• Ionizing radiation
• Infections

Ultrasound findings in the fetus during pregnancy:

• Congenital abnormalities
• Diminished growth
• Ultrasound indicators such as increased NT, short femur, echogenic bowel, etc.

Affinity or Locality of parents