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The Merck Manual--Second Home Edition logo
 
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Chapter 256. Detection of Genetic Disorders
Topics: Introduction | Genetic Screening | Prenatal Diagnostic Testing
 
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Introduction

A big concern of prospective parents is whether their baby will be healthy. Some problems that occur in babies are due to genetic disorders. These disorders may result from abnormalities in one or more genes or in chromosomes (see Section 1, Chapter 2 and Section 23, Chapter 266). Abnormalities may be hereditary or may occur spontaneously. A spontaneous abnormality may result from exposure before birth to drugs, chemicals, or other damaging substances (such as x-rays) or may occur by chance.

To determine whether the risk of having a baby with a hereditary genetic disorder is increased, a couple who is thinking of having a baby can undergo genetic screening. If a couple is considered at increased risk, procedures to test the fetus during the pregnancy (prenatal diagnostic testing) can be performed.

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