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Genetic Disorders and Foetal Defects

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Introduction

Trisomy 21 - Down Syndrome

Trisomy 18, Edward Syndrome

Trisomy 13, Patau Syndrome

Neural Tube and Ventral Wall Defects

William's Syndrome

Turner's Syndrome

Cri Du Chat Syndrome

The following pages describe several of the genetic disorders and foetal defects that can be detected by using prenatal testing as described in the first part of this article  Genetic Testing Options in Pregnancy.

Genetics:  

Every man and woman constitutes 23 pairs of chromosomes (a total of 46) including the one pair that is the main difference between the sexes, i.e. the sexual chromosomes.

Half of an individual's chromosomes come from the mother and half from the father.  These chromosomes contain the information that is used by the body to determine the pattern of growth that will be followed.

The following shows a picture (called a Karyotype) that is used to define a standard genetic profile for humans.  It shows 22 pairs plus the X and Y sex chromosomes.

Some disorders are created by the presence of an extra chromosome that creates a triple-set instead of a pairing.  The location of this triple-set determines the medical name of the disorder.  For example, Down Syndrome is known as Trisomy 21, this means that an extra chromosome has created a triple-set in the location of the 21st pairing of chromosomes

Other problems can arise when all or part of a chromosome is missing or mixed up in some fashion.

Where possible, links have been provided in each section, pointing to further locations that provide information and/or support for parents.  If anyone wishes to nominate a site for inclusion in the list of relevant links, then please e-mail the editor.  

Introduction

Trisomy 21 - Down Syndrome

Trisomy 18, Edward Syndrome

Trisomy 13, Patau Syndrome

Neural Tube and Ventral Wall Defects

William's Syndrome

Turner's Syndrome

Cri Du Chat Syndrome

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