Consultation with specialists in the field of gene science to learn about high-risk pregnancies. Tips on the process, qualifications and history.
Genetic counseling can be an important consideration to expectant parents, especially those over 35 years of age or those experiencing fertility issues. When this arises, a perinatologist may be who you seek for advise and follow through with on any genetic counseling offered.
What exactly is genetic counseling? It is consultation with specialists in the field of genetics and high-risk pregnancies. They assist couples in making the best decisions possible regarding the health of a pregnancy and future babies to be birthed.
What initiates genetic counseling is tracing family history and seeing what problems have occurred in the past with family members. Questions will be asked regarding miscarriages, chronic medical problems, surgery and children who may have died at a young age. Discuss these issues with family members prior to an appointment if possible. Their information and history could shed light on your desire for a healthy baby.
Serious birth defects are one concern for parents wanting a baby. Every parent wonders about the possibility of it, but some parents have more reason for this concern than others. Downs syndrome, also known as trisomy 21, is one such concern and most especially for older mothers since the risk for Down syndrome increases with age. Women in their 30s and 40s are at highest risk for having a baby with this birth defect.
Trisomy 18 is another chromosomal abnormality like Downs syndrome. Called Edwards syndrome, it occurs in approximately 1 out of 8,000 newborns. These newborns are rather small as well as mentally retarded and often fail to gain adequate weight as babies. Many often die by 2 months of age, of heart defects.
Trisomy 13, also known as Patau syndrome, occurs less frequently in about 1 out of 15,000 births. These babies have severe abnormalities which include defects of the brain, eyes, ears, hands and internal organs. Some will also have a cleft lip and a cleft palate. Babies with this chromosomal abnormality usually die in their first month of life.
Turner syndrome involves a baby having only one female chromosome. These girls will often be short and have undeveloped ovaries and may require hormonal therapy once they reach the age of adolescence.
Klinefelter syndrome involves an extra female chromosome in a male child. Boys with this condition will have small testes and often be sterile as well.
Other abnormalities can arise as well which include Huntingtons disease, neurofibromatosis and dwarfism disorders. Whether or not a genetic disorder will occur depends on the way it is inherited as in whether or not one or both parents carry the defective gene.
With all these varying conditions that can occur, it is easy to see why genetic counseling might be important for parents with family histories of hereditary disorders. Seeking sufficient counseling could begin by calling a local hospital or the March of Dimes who focus on preventing birth defects. The American Board of Medical Genetics can also be helpful since they certify genetic professionals and publish a listing of their members. However you approach genetic counseling, obtain as much family history as possible so you can make the most of your pregnancy and parenting decisions.
