Genetic Counseling

Genetic counseling is the process by which patients at risk of an inherited disease are advised about the consequences of the disease, the availability of screening, the availability of screening tests for carrier detection, and the way diseases can be prevented, avoided or treated. Some of the screening tests may include ultrasound, diagnostic tests, amniocentesis, chorion villus sampling (CVS) and fetal blood sampling(FBS).

Amniocentesis

source: embarazo10.com/2006/06/20/la-amniocentesis/

What are various types of genetic counseling?

Single Gene Abnormalities

The most common form of DNA accidents involves a single base change. these DNA accidents involve small numbers of nucleotides. for example different types of mutations are responsible for Familial hypercholesterolemia and Beta- Thalassemia.

Source: http://www.carolguze.com/images/clinical/ldlendo.jpg

What is the most common forms of DNA accidents?

Introduction

Chromosome abnormalities are problems that exist in the genetic structure of a baby's chromosomes. Also referred to as chromosome disorders, these abnormalities can appear in different ways. Chromosomes are dynamic structures that undergoes different types of accidents. Most chromosome abnormalities involve an extra copy of a particular chromosome. Sometimes chromosomes might be broken or arranged in the wrong order. Some types of chromosomal abnormalities may cause major physical and mental disabilities. chromosome abnormalities may include Down syndrome, klinefelter syndrome, and Turner syndrome.

source: www.sydneygenetics.com/.../557/Default.aspx

What are Chromosome Abnormalities?

welcome!

Welcome to the genetic and chromosomal abnormalities blog. This blog is offered to grade 8 students. We will use it to share information and post announcements.