Probably not. While there are a few circumstances where 3-D ultrasound can provide valuable additional information, in most cases it is simply not as good or informative as conventional 2-D ultrasound. Our 2-D equipment and techniques are the highest level available in medicine today, which usually provide more definitive answers than 3-D sonography. However, 3-D ultrasound can be utilized in those rare cases where it may be medically indicated.
What is Genetic Counseling?
What is a Genetic Counselor?
A genetic counselor is an important member of the perinatal health care team with specialized training in genetics and genetic disease. Because their training is so focused and specialized, the genetic counselor often has access to information and resources not readily available to your doctor. This puts the genetic counselor in the unique position of being able to serve as a liaison among you, your doctor, and the sometimes daunting world of medical genetics. If a diagnosis has been made, genetic counselors provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services. Often, the genetic counselor interprets medical information and can become a most welcome support person if the information turns out to be stressful or complex.
Why do I need to see a Genetic Counselor?
Every parent hopes to have a healthy child. The good news is that most babies are born healthy. However, there are occasions where a genetic disease or birth defect may occur, or the possibility of a birth defect might exist. In these cases, you may be referred to a genetic counselor to learn whether your baby may be at increased risk for having a genetic disorder. You can discuss the choice of having one or more special tests done. Some of the more common reasons your doctor may want you to receive genetic counseling are:
- You have concerns about the chance of having a child with a birth defect or genetic disease.
- You will be 35 years of age or more at the time of expected delivery.
- You or your partner has a previous child with a birth defect or genetic condition.
- You or someone in your family have a genetic disorder or birth defect.
- You or someone in your family have a child with mental retardation or developmental delay.
- You have experienced a stillbirth or multiple miscarriages with no known explanation.
- You have a medical condition (e.g. epilepsy) requiring medications.
- You want to know more about testing for recessive genetic diseases common for certain ethnic backgrounds (e.g. sickle cell disease, Tay-Sachs disease, cystic fibrosis).
- You have a positive screening test result (e.g. first trimester screen, triple/quad screen, or AFP test).
- You have had an ultrasound examination revealing a physical abnormality or variation in the fetus.
What will the counseling session involve?
In general, the counselor will take a detailed family genetic history called a pedigree. The reason for your visit will determine just how detailed the history will be. The topic you bring to the genetic counseling session may determine the content of the discussion. Session length will depend on the reason your physician referred you, the number of questions or complexity of the family history, and may take from 15 to 60 minutes. The accuracy and appropriateness of prenatal diagnostic, genetic screening, and other tests will vary depending on your individual health and family history. Most appointments include testing preformed on the same day, if appropriate. However, you may need additional time to consider the information given to you. In those cases, an appointment for testing will be made on a separate day. Our goal is to ensure that you and your family are comfortable with your decisions and that you feel you made an informed choice.
What Can I Expect at My Visit?
No doctor or doctor's office can operate without at least some paperwork, so please be prepared to fill out a form or two. The most important form is your medical history. Your primary doctor may have forwarded some of your medical information to us (with your permission, of course), but that generally just deals with the problem at hand. Since your perinatologist may be making important medical assessments and recommendations, it is important that you provide us with a complete medical history. Yes, we need to know about that tonsillectomy as it may affect anesthesia decisions. Yes, we need to know about that hernia surgery when you were a baby as it may influence surgical plans. So paperwork is part of the deal.
Depending on the reason for your visit, you may consult with a genetic counselor before you see the perinatologist. An integral part of your visit is the sonogram. Some of our offices utilize sonographers to initiate the ultrasound examination. A sonographer is a person specially trained (and in our offices, specially certified) to perform obstetrical sonography. The sonographer performs the measurements and documentation required for a complete obstetrical ultrasound. Her findings are then presented to the perinatologist who verifies the findings and completes the examination. Some offices do not utilize sonographers, in which case the perinatologist will perform the complete ultrasound.
What Happens after the Ultrasound?
Fortunately, in most cases, the findings are normal, the news is good, and you are done! In some cases, the news is not necessarily bad, but high risk circumstances may require putting together a game plan and scheduling repeat visits. Such plans are always discussed with you in detail and implemented only with the approval of your primary care doctor.
We are only consultants – your primary Ob/GYN remains captain of the ship, has absolute veto power over our recommendations, and will always be a part of any major decision. In cases where the news is bad (fortunately these are rare), the perinatologist (and where indicated, our genetics counselor) will discuss the situation with you in detail, immediately consult your primary care physician by phone, and make plans for any further diagnostic or therapeutic steps necessary. In all cases, a detailed report is sent to your primary care provider the day you are seen.
How Can I Make My Visit as Efficient and Effective as Possible?
If you are referred to NTPA to address a specific problem, such as a problem with a previous pregnancy, abnormal laboratory result, existing medical condition, or other such issues, please make sure your doctor has your permission to forward relevant medical information to us prior to the date of your visit.
Within our site you can find our NTPA forms that can be downloaded and filled out ahead of time to streamline your office visit.
When and Why Should I Have Fetal Testing and Treatment?
If a woman has prenatal screening that shows the baby may have a birth defect, additional fetal tests may be performed. While screening only reveals the possibility of having a child with a birth defect, follow-up fetal testing can confirm a diagnosis.
If you are 35 or older and are pregnant, your gynecologist will recommend fetal testing. Additionally, if you have already given birth to a child with a birth defect or have a family history of birth defects, the doctor will recommend fetal testing. If you do not fit into any of these categories, but have undergone prenatal screening with results that indicate you could have a child with a birth defect, your gynecologist will also give you the option of fetal testing.
If a fetal test has shown your child will have a birth defect and you decide to have your baby, your gynecologist can make arrangements for you to give birth at a hospital that is prepared to care for your newborn's special needs. The doctor may also refer you to a pediatric or surgical specialist to discuss more details about your baby’s health and preparations for his or her needs.
Fetal testing is a choice a woman and her partner must make. These questions may be helpful to help in the decision-making process:
- Do you live in a rural or isolated area? If so, you may want to consider fetal testing. That way, if an abnormality is found, you can make arrangements to give birth at a hospital that can offer the special care you will need.
- If your ultrasound screen has shown a possible birth defect, do you want to know if there may be other abnormalities associated with it? If you feel you would need more information to continue the pregnancy, fetal testing could provide those answers.
- Are you unsure what to do? Although it can be hard to think about, it can be helpful to compare worst-case scenarios. Which would be harder for you: to raise a baby with a birth defect or to lose a normal pregnancy (due to complications after an amniocentesis)
Amniocentesis
Amniocentesis is a procedure in which a doctor draws fluid from the amniotic sac to test for genetic birth defects and other conditions. Since the cells in the amniotic fluid have the same genetic makeup as the fetus, they can be tested for abnormalities. Amniocentesis is usually done between 16 and 18 weeks of pregnancy.
One woman out of every 200 who has an amniocentesis will have an issue or develop an infection and lose the pregnancy (which could have been a normal fetus). Therefore, it can be one of the most difficult decisions some women must make during pregnancy.
During the Procedure:
Ultrasound is used to help the gynecologist determine where the baby and placenta are located. Next, a needle is inserted through the abdomen and into the uterus to extract a small amount amniotic fluid. Although it may be stressful and you may feel some pressure, you will feel little pain during the procedure.
After the Procedure:
Results of the amniocentesis generally arrive within two to three weeks. If an abnormality is identified, this information can be used to help you make a decision about continuing or terminating your pregnancy.
Chorionic Villus Sampling
Chorionic Villus Sampling (CVS) is a test in which cells are taken from tiny fingerlike projections on your placenta (chorionic villi) during weeks 10 to 13 of pregnancy. It is highly accurate and can detect chromosomal abnormalities 98 percent of the time. CVS is usually done in a hospital, but sometimes can be performed in a gynecologist’s office.
During the CVS Procedure:
Depending on where your placenta is located, your gynecologist will perform a transcervical or transabdominal CVS. Most women experience some type of discomfort such as mild or moderate cramps.
- Transcervical Procedure: During a transcervical procedure, your gynecologist will insert a long, thin tube into your vagina then into your uterus, using ultrasound imaging to guide the tube. Next, the tube is placed between the uterine lining and the chorion, which is the fetal membrane that will eventually form the fetal side of the placenta. A sample of the chorionic villi will then be removed for study.
- Transabdominal Procedure: Ultrasound will be used to locate the placenta and to view the uterine walls. Then, a needle will be inserted through the abdomen and uterine wall to the edge of the placenta, where cells will be drawn up through the needle.
After the Procedure:
The gynecologist will send the samples to a lab for genetic analysis. Test results are usually available in one or two weeks.