Edwards syndrome

Definition

Edwards' syndrome is caused by an extra copy of chromosome 18. For this reason, it is also called trisomy 18 syndrome. The extra chromosome is lethal for most babies born with this condition. It causes major physical abnormalities and severe mental retardation, and very few children afflicted with this disease survive beyond a year.

Description

Humans normally have 23 pairs of chromosomes. Chromosomes are numbered 1-22, and the 23rd pair is composed of the sex chromosomes, X and Y. A person inherits one set of 23 chromosomes from each parent. Occasionally, a genetic error occurs during egg or sperm cell formation. A child conceived with such an egg or sperm cell may inherit an incorrect number of chromosomes.

In the case of Edwards' syndrome, the child inherits three, rather than two, copies of chromosome 18. Trisomy 18 occurs in approximately 1 in every 3,000 newborns and affects girls more often than boys. Women older than their early 30s have a greater risk of conceiving a child with trisomy 18, but it can occur in younger women.

Causes & symptoms

A third copy of chromosome 18 causes numerous abnormalities. Most children born with Edwards' syndrome appear weak and fragile, and they are often underweight. The head is unusually small and the back of the head is prominent. The ears are malformed and low-set, and the mouth and jaw are small. The baby may also have a cleft lip or cleft palate. Frequently, the hands are clenched into fists, and the index finger overlaps the other fingers. The child may have clubfeet and toes may be webbed or fused.

Numerous problems involving the internal organs may be present. Abnormalities often occur in the lungs and diaphragm (the muscle that controls breathing), and heart defects and blood vessel malformations are common. The child may also have malformed kidneys and abnormalities of the urogenital system.

Diagnosis

Physical abnormalities point to Edwards' syndrome, but definitive diagnosis relies on karyotyping. Karyotyping involves drawing the baby's blood or bone marrow for a microscopic examination of the chromosomes. Using special stains and microscopy, individual chromosomes are identified, and the presence of an extra chromosome 18 is revealed.

Trisomy 18 can be detected before birth. If a pregnant woman is older than 35, has a family history of genetic abnormalities, has previously conceived a child with a genetic abnormality, or has suffered earlier miscarriages, she may undergo tests to determine whether her child carries genetic abnormalities. Potential tests include maternal serum analysis or screening, ultrasonography, amniocentesis, and chorionic villus sampling.

Treatment

There is no cure for Edwards' syndrome. Since trisomy 18 babies frequently have major physical abnormalities, doctors and parents face difficult choices regarding treatment. Abnormalities can be treated to a certain degree with surgery, but extreme invasive procedures may not be in the best interests of an infant whose lifespan is measured in days or weeks. Medical therapy often consists of supportive care with the goal of making the infant comfortable, rather than prolonging life.

Prognosis

Most children born with trisomy 18 die within their first year of life. The average lifespan is less than 2 months for 50% of the children, and 90-95% die before their first birthday. The 5-10% of children who survive their first year are severely mentally retarded. They need support to walk, and learning is limited. Verbal communication is also limited, but they can learn to recognize and interact with others.

Prevention

Edwards' syndrome cannot be prevented.

Key Terms

Aminocentesis

A procedure in which a needle is inserted through a pregnant woman's abdomen and into her uterus to withdraw a small sample of amniotic fluid. The amniotic fluid can be examined for signs of disease or other problems afflicting the fetus.

Chorionic villus sampling

A medical test that is best done during weeks 10-12 of a pregnancy. The procedure involves inserting a needle into the placenta and withdrawing a small amount of the chorionic membrane for analysis.

Chromosome

A structure composed of deoxyribonucleic acid (DNA) contained within a cell's nucleus (center) in which genetic information is stored. Human have 23 pairs of chromosomes, each of which has recognizable characteristics (such as length and staining patterns) that allow individual chromosomes to be identified. Identification is assigned by number (1-22) or letter (X or Y).

Karyotyping

A laboratory test used to study an individual's chromosome make-up. Chromosomes are separated from cells, stained, and arranged in order from largest to smallest so that their number and structure can be studied under a microscope.

Maternal serum analyte screening

A medical procedure in which a pregnant woman's blood is drawn and analyzed for the levels of certain hormones and proteins. These levels can indicate whether there may be an abnormality in the unborn child. This test is not a definitive indicator of a problem and is followed by more specific testing such as amniocentesis or chorionic villus sampling.

Trisomy

A condition in which a third copy of a chromosome is inherited. Normally only two copies should be inherited.

Ultrasound

A medical test that is also called ultrasonography. Sound waves are directed against internal structures in the body. As sound waves bounce off the internal structure, they create an image on a video screen. An ultrasound of a fetus at weeks 16-20 of a pregnancy can be used to determine structural abnormalities.

Further Reading

For Your Information

Books

• Gardner, R.J. McKinlay, and Grant R. Sutherland. Chromosome Abnormalities and Genetic Counseling. New York: Oxford University Press, 1996.
• Jones, Kenneth Lyons. Smith's Recognizable Patterns of Human Malformation, 5th ed. Philadelphia: W.B. Saunders Company, 1997.

  Organizations

• The Chromosome 18 Registry & Research Society. 6302 Fox Head, San Antonio, TX 78247. (210) 657-4968. http://chr18.uthscsa.edu/.
• Support Organization for Trisomy 18, 13, and Related Disorders (SOFT). 2982 South Union Street, Rochester, NY 14624. (800) 716-SOFT. http://www.trisomy.org/.

Gale Encyclopedia of Medicine. Gale Research, 1999.