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Overview of Genetic Disorders


Jeffrey S. Dungan

, MD, Northwestern University, Feinberg School of Medicine

Last full review/revision Sep 2021| Content last modified Sep 2022
Topic Resources
  • Hereditary genetic disorders are passed down from generation to generation.

  • Spontaneous genetic disorders are not passed down from one generation to another, but they occur when genetic material in the father’s sperm or mother's egg cells or in the cells of the developing embryo is damaged by chance or by drugs, chemicals, or other damaging substances (such as x-rays).

  • Before women become pregnant, they and their partner should speak with their health care practitioner about their risk of having a baby with a genetic disorder.

  • Risk factors include older age in the woman, a family history of genetic abnormalities, a previous baby with a birth defect or miscarriage, and a chromosomal abnormality in one of the prospective parents.

  • Testing for genetic disorders is offered to all women but is particularly important if a couple’s risk is higher than normal.

Couples who are thinking of having a baby should speak with their health care practitioner about the risks of genetic abnormalities (prenatal genetic counseling). They can discuss precautions that they can take to help prevent some genetic abnormalities. For example, women can avoid exposure to toxic substances and radiation.

Couples can also ask their doctor to determine whether their risk of having a baby with a hereditary genetic abnormality is higher than average. If so, tests that can help assess those risks more precisely (genetic screening Genetic Screening Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more ) can be done. If these tests show a high risk of passing on a serious genetic abnormality, the couple can consider the following:

If the woman is already pregnant, the doctor explains what procedures can be used to test the fetus during the pregnancy (prenatal diagnostic testing Prenatal Diagnostic Testing Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more ). The doctor also explains what options are available if an abnormality is diagnosed. Abortion Abortion Induced abortion is the intentional ending of a pregnancy by surgery or drugs. A pregnancy may be ended by surgically removing the contents of the uterus or by taking certain drugs. Complications... read more is one of these options. In some cases, the abnormality can be treated. Sometimes the couple is referred to a genetic specialist to discuss the issues. Doctors may advise the woman to get prenatal care at a center that provides more extensive services for newborns.

Couples should take time to absorb the information and should ask any questions they have.

Risk Factors for Genetic Disorders

All pregnancies involve some risk of genetic abnormalities.

The following percentage of all babies have an abnormality:

  • 0.5% have a chromosomal disorder.

  • 1% have a single-gene (mendelian) disorder.

  • 1% have a disorder caused by defects in several genes.

The percentage of stillborn babies with an abnormality is even higher.

However, certain conditions increase risk.

Abnormalities due to several factors

Some birth defects, such as cleft lip or palate Cleft Lip and Cleft Palate A cleft is an opening that can form in the lip (cleft lip), roof of the mouth (cleft palate), or both if the tissue does not join together completely during pregnancy. Cleft lip and cleft palate... read more Cleft Lip and Cleft Palate , result from abnormalities in one or more genes plus exposure to certain other factors, including substances in the environment (called multifactorial inheritance). That is, the abnormal gene makes the fetus more likely to develop a birth defect, but the birth defect usually does not develop unless the fetus is exposed to specific substances, such as certain drugs or alcohol Overview of Substance-Related Disorders Drugs are an integral part of everyday life for many people, whether the drugs are used for legitimate medical purposes or recreationally (see table Drugs with Medical and Recreational Uses)... read more . Many common birth defects, such as heart malformations, are inherited in this way.

Neural tube defects

Neural tube defects Neural Tube Defects and Spina Bifida Neural tube defects are a certain type of birth defect of the brain, spine, and/or spinal cord. Neural tube defects can result in nerve damage, learning disabilities, paralysis, and death. The... read more are birth defects of the brain or spinal cord. (The brain and spinal cord develop from a part of the embryo called the neural tube). Examples are spina bifida (in which the spine does not completely close, sometimes exposing the spinal cord) and anencephaly (in which a large part of the brain and skull is missing). In the United States, neural tube defects occur in about 1 in 1,000 births. For most of these defects, inheritance is multifactorial (abnormal genes plus other factors). Other factors include

  • Family history: The risk of having a baby with a neural tube defect is increased by having a family member, including the couple’s children, with such a defect (family history). For couples who have had a baby with spina bifida or anencephaly, the risk of having another baby with one of these defects is 2 to 3%. For couples who have had two children with one of these defects, the risk is 5 to 10%. However, about 95% of neural tube defects occur in families without a history of neural tube defects.

  • Folate deficiency Folate Deficiency Folate deficiency is common. Because the body stores only a small amount of folate, a diet lacking in folate leads to a deficiency within a few months. Not eating enough raw leafy vegetables... read more : Risk may also be increased by a diet that is low in folate, a vitamin. Folate supplements help prevent neural tube defects. Therefore, daily folate supplements are now routinely recommended for all women of childbearing age, particularly for pregnant women. Folate is usually included in prenatal vitamins.

  • Geographic location: Risk also varies based on where a person lives. For example, risk is higher in the United Kingdom than in the United States.

A few neural tube defects result from hereditary abnormalities in a single gene, from chromosomal abnormalities, or from exposure to drugs.

Chromosomal abnormalities

Many chromosomal abnormalities Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one... read more , mainly those involving an abnormal number of chromosomes or an abnormality in a chromosome's structure, can be detected by standard chromosomal testing. These abnormalities occur in about 1 of 250 live births in the United States and account for at least half of all miscarriages that occur during the 1st trimester. Most fetuses that have chromosomal abnormalities die before birth. Among live-born babies, Down syndrome Down Syndrome (Trisomy 21) Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. Down syndrome is caused by an extra chromosome 21... read more Down Syndrome (Trisomy 21) is the most common chromosomal abnormality.

Several factors increase the risk of having a baby with a chromosomal abnormality:

Did You Know...

  • The chance of having a baby with Down syndrome at age 35 is about 1 in 365.

  • The chance of having a baby with Down syndrome at age 40 is about 1 in 100.

Some chromosomal abnormalities cannot be detected by standard chromosomal testing. Most of these abnormalities are too small to be seen with a microscope, so they are sometimes called submicroscopic abnormalities (or copy-number variants). For example, a very small part of a chromosome may be missing (called a microdeletion), or a chromosome may have a very small extra part (called a microduplication). How often microdeletions and microduplications occur is unknown. However, about 6% of children with structural birth defects have them, even though results of standard chromosomal testing are normal. Tests called chromosomal microarray testing can detect microdeletions and microduplications. Doctors may offer microarray testing before birth in certain circumstances—for example, when birth defects are suspected in a fetus.


Single-gene disorders

In single-gene disorders, only one pair of genes is involved. A gene may have a mutation, which interferes with its normal function and can lead to disease or birth defects. The risk of such disorders depends on whether the disorder develops when only one gene in the pair has a mutation (such genes are dominant Dominant disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more ) or when both genes must have mutations (such genes are recessive Recessive disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more ).

Risk also depends on whether the gene is located on the X chromosome. There are 23 pairs of chromosomes. One pair, the X and Y chromosomes (sex chromosomes), determines sex. All the rest of the chromosomes are called autosomal chromosomes. Women have two X chromosomes, and men have one X chromosome and one Y chromosome. If the abnormal gene is located on the X chromosome, the disorder it causes is called an X-linked X-Linked Inheritance Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more (sex-linked) disorder.

If boys inherit an abnormal gene for an X-linked disorder (on the X chromosome), they have the disorder even if the gene is recessive because they have only one X chromosome, which has an abnormal gene. They do not have a normal X chromosome to override the one with the abnormal gene. If a male fetus inherits a dominant X-linked gene, the pregnancy typically ends in miscarriage Miscarriage A miscarriage is the loss of a fetus due to natural causes before 20 weeks of pregnancy. Miscarriages may occur because of a problem in the fetus (such as a genetic disorder or birth defect)... read more .

However, girls must inherit two abnormal genes to develop an X-linked disorder if the gene is recessive. If the abnormal gene is dominant, only one abnormal gene is required for the disorder to develop.

If the prospective mother and father are related, they are more likely to have the same mutation in one or more of the genes that cause autosomal recessive disorders. Thus, the risk of such disorders is increased.


More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

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