The term trisomy is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 chromosomes, rather than the usual pair, the baby would be said to have "trisomy 21." Trisomy 21 is also known as Down syndrome. Other examples of trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) present in each cell of the body, rather than the usual pair.
Trisomy 18 and trisomy 13 are genetic disorders that include a combination of birth defects. This includes severe intellectual disability, as well as health problems involving nearly every organ system in the body. Unfortunately, most babies born with trisomy 18 or 13 die by age 1. It is important to note that some babies with trisomy 18 or 13 do survive the first year of life. Therefore, these disorders are not universally fatal. In the absence of any immediate life-threatening problems, accurate predictions of life expectancy are difficult to make. There are a few reports of babies with trisomy 18 or 13 surviving to their teens, however, this is unusual.
Trisomy 18 is also called "Edwards syndrome," named after the physician who first described the disorder. Trisomy 13 is called "Patau syndrome," in honor of the physician who first described it.
Usually, each egg and sperm cell contains 23 chromosomes (half the normal number i body cells). The union of these cells creates 23 matched pairs, or 46 total chromosomes at the time of fertilization. In this manner, a person receives exactly half of their genetic material from each biological parent. Sometimes, an error occurs when an egg or sperm cell is forming, causing it to have an extra chromosome #18 or #13 inside. If this egg or sperm cell contributes that extra chromosome 18 to the embryo, then trisomy 18 results. If this egg or sperm cell contributes that extra chromosome 13 to the embryo, then trisomy 13 results. The extra chromosome 18 or 13 can come from either the mother or father. The features of trisomy 18 and trisomy 13 result from having this extra copy of chromosome 18 or 13 in each of the body's cells.
Occasionally, the extra chromosome 18 or 13 is attached to another chromosome in the egg or sperm; this is called a translocation. This is the only form of trisomy 18 or 13 that can be inherited from a parent. Sometimes, a parent can carry a "balanced" rearrangement, where chromosome 18 or 13 is attached to another chromosome. However, since the parent does not have any extra or missing chromosome material, they are said to have a "balanced translocation" and they are usually normal and healthy. Rarely, mosaic trisomy 18 or 13 may occur when the error in cell division occurs after fertilization. These affected persons have some cells with an extra chromosome 18 or 13 and others with the normal number.
Babies with trisomy 18 appear thin and frail. They fail to thrive and have problems feeding. Trisomy 18 causes a small head size, with the back of the head (occiput) prominent. Ears are usually low-set on the head. The mouth and jaw are unusually small, and there is a shortened sternum (breastbone).
At birth, these babies are small for their age, even when delivered full-term, and have a weak cry. Their response to sound is decreased and there is often a history of infrequent fetal activity during the pregnancy. Most babies with trisomy 18 have heart defects. They clench their fists in a characteristic manner and fully extending their fingers is difficult. Joint contractures—where the arms and legs are in a bent position, rather than relaxed—are usually present. The feet may be referred to as "rocker bottom," due to their curved shape.
Babies with trisomy 18 may also have spina bifida, eye problems, cleft lip and palate, and hearing loss. It is also common to see feeding problems, slow growth, seizures, high blood pressure, kidney problems, and scoliosis (curvature of the spine). In males, the testes sometimes fail to descend into the scrotum.
Most babies with trisomy 18 have problems that affect all parts of the body in some way. The majority of children with trisomy 18 will have most, but not all, of the health problems mentioned here. Heart problems, feeding difficulties, and an increased susceptibility to infection are factors which, most often, contribute to the death of these children.
Babies with trisomy 13 often have a low birthweight, even when born full-term. They have a small head, with a sloping forehead. Usually, there are major structural problems with the brain that are diagnosed shortly after birth. Often, the front of the brain does not divide properly, resulting in a condition called holoprosencephaly. This can cause changes in the development of the baby's face, where the eyes are close set, or the nose or nostrils are underdeveloped. Cleft lip and cleft palate are common in babies with trisomy 13.
Eye problems are common and the ears are low-set and unusual in shape. Sometimes, babies with trisomy 13 can have scalp abnormalities (cutis aplasia) which resemble ulcers. They can also have birthmarks that are purplish-red in color; the color is due to tiny blood vessels close to the skin (hemangiomas).
Many babies with trisomy 13 have extra fingers and toes (polydactyly). The feet may have prominent heels. In many cases, there are other health problems present at birth. These include heart defects, kidney problems, and/or an omphalocele (a condition in which some of the abdominal organs protrude through an opening in the abdominal muscles in the area of the umbilical cord). In males, the testes sometimes fail to descend into the scrotum. Females may have an abnormally shaped uterus, called a bicornuate uterus.
Since trisomy 18 and trisomy 13 each have a unique group of characteristics, a physician may be able to determine whether a baby has trisomy 18 or 13 simply by physical examination. To confirm the physical findings, a small blood sample can be taken and the chromosomes can be analyzed to determine the presence of an extra #18 or #13 chromosome.
Chromosomal abnormalities such as trisomy 18 and 13 can be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can also give information about the possibility of trisomy 18 or 13. Ultrasound is not 100 percent accurate, since some babies with trisomy 18 and 13 may look the same on ultrasound as those without the syndrome. A chromosome analysis, whether performed on a blood sample, cells from the amniotic fluid, or placenta, is very accurate.
In general, for women under 35 years of age, the chance of having another baby with trisomy 18 or 13 depends on several factors. The risk to having a baby with trisomy 18 or 13 does increase slightly with each added year of maternal age.
After birth, the physician usually takes a blood sample from a baby suspected of having trisomy 18 or 13, to perform a chromosomal analysis (called a karyotype). This confirms the physical findings of trisomy 18 or 13 and determines the underlying chromosomal abnormality. This information is important in determining the risk in future pregnancies. (Translocation and mosaic trisomy 18 and 13 have different recurrence risks for future pregnancies). The physician may refer parents to a genetic physician or genetic counselor who can explain the results of chromosomal tests in detail. This includes what the recurrence risks may be in another pregnancy and what tests are available to diagnose chromosome problems before a baby is born.
There is no cure for trisomy 18 or trisomy 13. We are not certain how to prevent the chromosomal error that causes trisomy 18 and trisomy 13. To date, there is no scientific evidence that a parent could have done anything to cause or prevent the birth of their baby with trisomy 18 or 13.
Because many babies born with trisomy 18 and trisomy 13 may not live beyond the first few days or weeks of life, it is possible that parents may have to face the fact that the baby may never go home from the hospital.
Many times, parents are frightened and overwhelmed by all of the information associated with trisomy 18 and 13. Decisions surrounding the care of an infant with trisomy 18 and 13 are difficult and personal. There are many resources available to parents to help them during this time, including early intervention services, hospice care, social workers, the hospital chaplain or clergyman, and genetic counselors. Families who have or have had a baby with trisomy 18 or trisomy 13 are particularly helpful and supportive since they have experienced many of the same questions and emotions.