What is a perinatologist?
Perinatologists are physicians who specialize in perinatal (before birth) diagnosis, genetics, and high risk obstetrics. Your obstetrician has referred you to us so that you and your baby may receive the specialty care we are trained to provide. The additional training and expertise of our physicians allows us to provide you with the most up-to-date and specialized prenatal testing techniques. Our years of experience in caring for women with special obstetrical needs is reflected in the level of compassion with which each patient is individually tested. Pre-pregnancy counseling is available to address any concerns you may have about medical conditions that may be affected by your pregnancy or which may impact the pregnancy outcome.

How do I get an appointment to see a perinatologist ?
Patients must have a referral from their primary care physician or obstetrician before coming to our practice. In general, this usually requires a preauthorization from their insurance company.

What can I expect at my visit?
Although your referring physician may have forwarded some of your medical information to us, we will still need to ask you to complete a few forms. The most important information that we will require is your medical history. Since we are making diagnoses and recommendations based on the past history of both yourself and your relatives, it is very important that this information be complete.

During the visit, you can expect to receive an ultrasound which is performed by an AIUM accredited sonographer. This is someone who is specially trained to perform ultrasounds and, in our offices, has no less than 7 years experience doing so. Her findings are presented to the perinatologist who will verify them, complete your examination and discuss the results with you.

Depending on the reason for your visit, you may also consult with a genetic counselor—please see the FAQ “What is genetic counseling” for more information.

How is the ultrasound at SEPE different from the scan in my doctor’s office ?
There are different types of ultrasound examinations. A standard exam can generally be performed in your doctor’s office and includes evaluation of fetal position, fetal number, fetal size, amniotic fluid volume and a general evaluation of fetal anatomy.

SEPE performs a specialized exam which is intended to answer a specific question or issue such as whether the heart is normal. We are able to perform these targeted exams because our physicians have specialized training in prenatal diagnosis and our sonographers are accredited by the American Institute for Ultrasound in Medicine (AIUM) and are using highly sensitive equipment.

What happens after the ultrasound?
In many cases, the ultrasound findings are normal and your visit with the perinatologist is done. You may not need to return to us for the remainder of your pregnancy. In some cases, the findings may indicate that you are at a higher risk for complications and the physician will put together a plan to monitor you throughout your pregnancy. This monitoring will always be done in coordination with your OB who remains in charge of your care. In rare cases, the findings may indicate unfortunate news and the perinatologist will discuss the situation with you in detail, immediately consult your OB by phone, and make plans for any further diagnostic or therapeutic steps necessary.

What is genetic counseling ?
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, 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 would 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.