More and more in recent years, as couples have planned for their first or next child, the issue of genetic counseling has come up. We present this as a guide to some of the most frequently asked questions.

What do we mean by genetic counseling? This is the procedure in which medical professionals determine the risk of your passing onto your child an inheritable disease.  In this process, a trained professional will identify those families at risk, investigate the problem within the family’s blood line, and interpret information regarding this condition.  He will then review the options available to the family with them.

Which couples should consider genetic counseling? The CDC (Centers for Disease Control) says that about three percent of children born in the U.S. are born with a birth defect.

The majority of couples won’t find that genetic counseling is needed. However, it should be considered if the couple has any of the following risk factors: unusual results to their routine prenatal testing, amniocentesis results that show a chromosomal defect, a close family member’s inheritable disease, a previous child born with a genetic disorder or birth defect, or a mother who is older than 35.

What does genetic counseling entail? There are several things to be expected.  Your doctor will ask many or most of the following:

Do you or does your family have a history of hypertension, diabetes, cancer or twins?  Do any of your family members have worrisome inheritable diseases?  Do you have a history of diseases such as hemophilia, cystic fibrosis, or muscular dystrophy?  Does anyone in your family have a birth defect or mental retardation?  Have any sisters or other relatives had problems with previous pregnancies?  What is your ethnic background?  Do you have any reason to think your child might be born with a defect or other medical issues?

What are chromosomes and genes? A chromosome is made up of DNA molecules. A human has 46 of them arranged in pairs; they live within every cell of the human body.  At a baby’s conception, half of each pair of chromosomes is inherited from both parents.

A gene is a part of DNA which is coded to communicate / distribute a certain trait to the child. For instance, it might be the gene that determines the child of the person’s eyes.  A gene is heredity’s simplest building block. Genes are grouped together in definite patterns forming a blueprint for each biological and physical characteristic of every individual.

What’s the cause of genetic disorders? These disorders are caused by a wide variety of factors.  For instance, they could be caused by abnormalities in the chromosomes or even by a single gene.  These disorders then could be characterized as recessive, dominant or X-linked disorders.

A recessive disorder is one in both genes within the pair are noted to be defective.  A dominant disorder is one in which a gene is defective and one is normal, but with the dominant overriding the normal one. An X-linked disorder is one in which a defective gene is found on an X-chromosome; the disorder could be either dominant or recessive.