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Pregnancy is usually a happy time. Most newborn infants are normal and healthy. Even so, parents often wonder if their newborn child will be normal.
The purpose of this informational page is to inform prospective parents who may be at higher-than-normal risk of having a child with certain birth defects. Careful consideration of the material presented will help you and your family make an informed decision about genetic testing and amniocentesis.
It is estimated by the U.S. Department of Health and Human Services that 2-4 pregnancies out of every 100 pregnancies result in a child with a severe birth defect. Some of these defects are the result of chromosomal abnormalities.
Chromosomes are tiny structures present in every human cell. Each chromosome contains thousands of genes that are critical to an individual's growth and development and that determine hereditary traits. In each normal human cell, except the egg and sperm cells, there are 46 chromosomes. They can be photographed and arranged into 23 matching pairs.
In the normal reproductive cycle the mother's egg - containing 23 chromosomes - is fertilized by the father's sperm - also containing 23 chromosomes. This union results in the development and growth of a fetus (unborn baby) whose cells have the normal number of chromosomes - 46.
Serious birth defects usually result if there are too many or too few chromosomes. The most common chromosomal abnormality in newborns is an extra chromosome in the 21st pair. This results in a disorder called Down syndrome, formerly called mongolism. It has been known for a long time that the risk of having a baby with Down syndrome increases with the mother's age, especially after 35 years of age. Recently it has been shown that the extra chromosome can come from the mother or the father.
Children with Down syndrome have a characteristic appearance, are mentally retarded, and may suffer from one or more physical ailments.
Developmentally, most Down syndrome children master the ability to sit, walk, and talk, but later than normal children. Although they are limited intellectually, special education will help them develop to their full potential. In adulthood, most individuals with Down syndrome have the intellectual capabilities of an elementary-school child, but they usually have more advanced social skills.
Medically, children with Down syndrome are generally more susceptible to colds and other respiratory infections than normal children.
About 30-40 percent of Down syndrome children have critical medical problems, such as heart defects. These may necessitate repeated hospitalizations, resulting in considerable emotional and financial burdens.
However, with advanced medical technology, those children with Down syndrome who survive the first few years may live past the age of 40. Whatever joys and problems such children bring will be shared by the entire family. The long-term responsibility for care may eventually fall on brothers and sisters as the parents age and die.
Often children with Down syndrome add a worthwhile dimension to family life since they are generally good natured and friendly, and usually acquire the necessary social skills to fit into family and community life.
The chance of having a child with the chromosomal abnormality that causes Down syndrome increases with the mother's age, especially for those women 35 and older at delivery. The chance is also greater for a mother of any age when she or the father has already had a child with a chromosomal abnormality.
There is a direct relationship between a mother's age and having a baby with Down syndrome. For women under 30 the chance is less than one in 1000, but at age 35 the chance is 1 in 400; at age 40 the chance is 1 in 105; and at age 44 the chance is 1 in 35.
When either parent has had a child with a chromosomal abnormality, there are at least 1 or 2 chances in 100 that a subsequent child will have severe birth defects associated with chromosomal abnormalities. For some specific types of chromosomal abnormalities the risk is even higher.
Amniocentesis is a test that has been developed to find out if a fetus has normal or abnormal chromosomes. The test consists of a special analysis of amniotic fluid obtained by an established medical procedure called amniocentesis. (Amniotic fluid is the scientific name for the "bag of waters" that surrounds the fetus in the uterus).
The amniotic fluid contains cells shed by the fetus. These cells are allowed to grow and multiply in a laboratory until there are enough for analysis. The cells are analyzed to determine the chromosomal pattern of the fetus (if twins, usually only one twin can be analyzed). This analysis is very complex and requires 4 to 5 weeks.
If the results of the test show normal chromosomes, some of the worry for the expectant parents can be eliminated. If the results show abnormal chromosomes indicating severe birth defects, the option of elective abortion (terminating the pregnancy) is available.
A decision about having amniocentesis is separate from any decision about elective abortion. Until actually faced with the knowledge that an expected child will be abnormal, it is not always possible to know what decision one might make.
Amniocentesis is best performed during the 16th to 18th week after the first day of the mother's last menstrual period. At this time there is enough amniotic fluid to sample and the fetus is very small, minimizing the chances of harming it. Amniocentesis is usually performed in a hospital or doctor's office on an outpatient basis.
WARNING! Amniocentesis has potentially harmful risks to mother and her unborn baby. It should ONLY be used when it is absolutely necessary and should never be a part of routine prenatal care. Be informed about the procedure and all of the pros and cons, as well as weighing the chances of having a child with special problems, before proceeding with the test.
RESOURCE LINKS
MoonDragon's Down Syndrome Overview
MoonDragon's Down Syndrome Alternative Approaches & Nutrition
Riverbend Down Syndrome Parent Support Group
Canadian Down Syndrome Society (CDSS)
Welcoming Babies With Down Syndrome
March of Dimes
Washington State Genetics Documents
MoonDragon's ObGyn Procedures: Amniocentesis Information
Information from Amniocentesis for Prenatal Chromosomal Diagnosis by U.S. Department of Health and Human Services
Photos from Diagnosis in color Obstetrics and Gynecology by Symonds and Macpherson.
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