You should consider genetic counseling for any one or a combination of the following:
You will be 35 years or older at the time of delivery.
As a woman’s age increases, the risk for having a child with a chromosome abnormality such as Down syndrome also increases. “Advanced maternal age” is commonly considered to be 35 years old or greater at the time of delivery. However, there is no absolute age at which a mother’s risk goes from “low” to “high.” Thirty-five is accepted since the risk of having a miscarriage from an amniocentesis is similar to the risk of a 35 year old for having a baby with a chromosome abnormality (~1/200). Back
You had a previous pregnancy or child diagnosed with a birth defect (such as chromosome abnormality or spina bifida) or mental retardation.
Couples who have had a pregnancy or child diagnosed with a birth defect or mental retardation may be at an increased risk for birth defects or mental retardation in future pregnancies. Back
You have an abnormal maternal serum screening test result indicating your pregnancy is at an increased risk for a chromosome abnormality or spina bifida (an opening in the spine).
During a pregnancy the placenta normally makes hundreds of chemicals that are required for normal fetal development many of which can be measured in a pregnant woman’s blood. Unusually high or low chemical levels can indicate a pregnancy is at an increased risk to have a chromosome abnormality such as Down syndrome or spina bifida. A blood screening test is not a definitive test for knowing if the fetus has a birth defect; it indicates a higher chance. Likewise, a normal screening test result is not an absolute guarantee that the fetus does not have a birth defect. There are two different times during a pregnancy when maternal serum screening can usually be performed. During the first trimester (11 –14 weeks) the neck skin of the fetus is measured through ultrasound and blood is taken from the mother by finger stick. Second trimester screening for chromosome abnormalities and spina bifida is performed by taking blood from the mother’s arm. Back
You have a family history of a chromosome abnormality.
Some pregnancies can be at an increased risk for a chromosome abnormality because one or more family members are carriers of a chromosome rearrangement called a translocation. Back
You have a family history of a known or suspected inherited genetic disorder.
Since genetic information is passed from parent to child, a patient and/or her biological partner who have one or more family member with a genetic disorder can be at an increased for a problem pregnancy. This group of patients includes those with a family history of genetic disease such as cystic fibrosis, hemophilia, Duchenne and Becker muscular dystrophies, and blood disorders such as sickle cell disease or the thalassemias. Back
You have experienced previous pregnancy loss (miscarriage, stillbirth, death in the newborn period).
The frequency of chromosome abnormalities is higher in miscarriages, stillbirths and deaths in the newborn period. If you have experienced a previous pregnancy loss, your risks may be increased for having a child with a chromosome abnormality in future pregnancies. Back
Your physician suspects a fetal abnormality.
Patients are frequently referred for a genetic consultation when an abnormality is detected on ultrasound. The purpose of the consultation may be for a second opinion, to offer the patient further clarification of the abnormality or to offer further testing such as CVS, amniocentesis, echocardiography or fetal blood sampling. Such testing may be warranted in order to learn the extent of the abnormality(ies) and thus determine how the fetus could potentially be affected. Back
You are currently pregnant with multiple fetuses.
A multiple gestation (twins, triplets, or higher) presents unique considerations for genetic counseling. Traditionally, women who are 35 or older will be offered prenatal diagnosis (amniocentesis or cvs) because of the increased risk for chromosome abnormalities. These procedures should be offered at a younger age for multiple pregnancies because of the additive risks for a chromosome abnormality when more than one fetus is present. The background risk for birth defects is also increased in multiple pregnancies. Other issues that are more common in multiple pregnancies include the use of ICSI (intracytoplasmic sperm injection) or donor egg/sperm with IVF and history of infertility. Back
You have been exposed to certain medications, street drugs, alcohol, chemicals, x-rays, specific infections or other potentially harmful agents.
Some women are exposed to medications and other chemicals during and/or prior to pregnancy. These exposures can potentially cause birth defects during the pregnancy. Back
You or your ancestors are of an ethnic origin, which has a higher occurrence of a specific genetic disorder.
Certain ethnic groups have a higher incidence of specific genetic conditions. Some of these include: Tay Sachs disease among the Eastern European Jewish population, sickle cell anemia among the African-American population and Beta thalassemia among the Mediterranean (Italian, Greek, Middle Eastern, Northern African) populations. Both mother and biological partner belonging to any of these groups should be offered testing to determine whether she and/or he is a carrier of the disease gene. Back
You and your partner are blood relatives.
As humans, we all carry 5 to 10 genes that by themselves do not work properly. However, since we usually have 2 copies of each gene – one inherited from our mother, the other from our father, we have one copy of the normal gene that dominates or over-rides the abnormal gene therefore the abnormal gene is not expressed. Couples who are related by blood share many of the same genes, and in some cases, the same non-working genes. In these cases, they have an increased risk of having a child with a birth defect(s) due to both parents passing the abnormal gene(s) to their offspring. Back |