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Medical Genetic Counseling in Children

Counseling for hereditary diseases and risk assessment in pediatric patients.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Medical Genetic Counseling in Children?

Medical genetic counseling in children is the process by which families with congenital anomalies, intellectual disability, hereditary metabolic disease and dysmorphic features receive a multidisciplinary evaluation and risk assessment.

It begins with a detailed three-generation family pedigree, dysmorphic examination, biochemical and molecular tests. Modern technologies include chromosomal microarray (CMA), targeted gene panels, whole-exome sequencing (WES) and whole-genome sequencing (WGS).

The counseling process explains diagnosis, prognosis, treatment options, recurrence risk and reproductive choices. It supports decisions about preimplantation genetic diagnosis (PGD) and prenatal diagnosis. Psychosocial support is integral.

Symptoms

Multiple congenital anomalies
Dysmorphic features
Developmental delay
Family history (recurrent disease)
Mental retardation
Growth retardation
Recurrent miscarriages

Risk Factors

Family history
Consanguineous parents
Recurrent disease in siblings
Recurrent miscarriages
Advanced maternal/paternal age
Environmental teratogen exposure

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Multiple congenital anomalies in newborn
  • Developmental delay/mental retardation
  • Family history
  • Recurrent miscarriages
  • Family history of metabolic disease
  • Pregnancy planning

Treatment Methods

01
Detailed family pedigree
02
Dysmorphic and physical examination
03
Targeted genetic testing/panel
04
Whole-exome sequencing (WES)
05
Reproductive counseling
06
Psychosocial support and follow-up

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.