Frequently Asked Questions
What is a Perinatologist?
A Perinatologist, also known as a Maternal-Fetal Medicine Specialist, is a Doctor who specializes in the care of high risk pregnancies. Women who are at risk of developing problems, or who have a history of complications during pregnancy, may be referred to this type of specialist care. The goal of this medical professional is to help a woman have a pregnancy that is as healthy as possible, and to address any problems as soon as they emerge.
When referred to a Perinatologist, the encounter usually starts by conducting a routine Ultrasound screening and a patient interview to get background on the pregnancy and the mother’s history and to collect some basic information about the baby. The Perinatologist may also conduct additional prenatal testing and diagnostic procedures to identify issues with the baby. After intake, he or she may discuss the pregnancy and the situation with the parents, and if needed, develop a treatment approach that will protect both mother and child. Some of the services provided by the maternal-fetal specialist include diabetes care, management of multiple gestations, ultrasound of the fetus, and genetic testing.
To become a Perinatologist, a Doctor needs to complete a four year residency program in Obstetrics and Gynecology followed by a two to three year fellowship program in Maternal-Fetal Medicine.
How Do I Get an Appointment to See a Perinatologist at Perinatal Center of Florida?
We are a consultative practice, which means we do not perform primary care services. Patients must have a formal referral from their obstetrician and generally must have insurance preauthorization prior to their appointment.
How Is the Ultrasound at Perinatal Center of Florida Different from the Scans in My Doctor’s Office?
There are different types of ultrasound examinations. A standard examination can generally be performed in your doctor’s office and includes evaluation of fetal viability, fetal number, fetal position, amniotic fluid volume, placental location, fetal size, and a general evaluation of fetal anatomy.
Perinatal Center of Florida, on the other hand, performs a detailed examinations of the baby. These are examinations generally intended to answer a specific question (“Is the heart normal?”) or address specific issues (“Does that blood test mean my baby has a genetic problem?”).
Perinatal Center of Florida can perform such high level examinations because our doctors have specialized training in prenatal diagnosis and genetics, our sonographers are obstetrical sonography specialists, we have the best, state-of-the-art equipment available, and we are accredited by the American Institute of Ultrasound in Medicine (AIUM). We are confident you will be impressed and reassured by the detail and quality of your examination.
Will This Be a 3D Ultrasound?
No. While there are a few circumstances wherein 3-D ultrasound can provide valuable extra information, in most cases it is simply not as good or informative as conventional 2-D ultrasound. Our 2-D equipment and techniques are of the highest quality available in medicine today, and in most cases provides better, 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 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 Intellectual Disability 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.
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 consultants, we advise both you and your obstetrician. – Your obstetrician remains the captain of the ship, and final decisions are made by you and your obstetrician. 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 obstetrician by phone, and make plans for any further diagnostic or therapeutic steps necessary. In all cases, a detailed report is sent to your obstetrician the day you are seen.
What Is 1st Trimester Risk Assessment for Down Syndrome, Trisomy 13 and Trisomy 18?
1st Trimester risk assessment testing is a combination of an ultrasound exam and a blood test to measure two chemicals normally present in the blood of all pregnant women.
The ultrasound measurements used in the screen are the nuchal translucency (NT) which is the thickness of a fluid filled space at the back of the baby’s neck and the crown-rump length (CRL). The blood test measures free beta human chorionic gonadotropin (free Beta hCG) and pregnancy associated plasma protein-A (PAPP A). These proteins are made by the baby or the placenta. The NT measurement and levels of free Beta hCG and PAPP A are used to calculate the specific risk for your baby to have Down syndrome or Trisomy 13 or 18.
Who Should Consider 1st Trimester Risk Assessment Testing?
- Women who will be 35 years of age or older at the time their baby is born are more likely to have a child with Down syndrome or Trisomy 13 or 18. However, most babies with Down syndrome or Trisomy 13 or 18 are born to mothers who are under age 35. 1st Trimester risk assessment Screen testing can help to determine if your baby is at increased risk for these conditions.
1st Trimester risk assessment Screen testing can also provide risk assessment for mothers who are 35 years of age or older but are undecided about diagnostic testing by amniocentesis.
- It is important for these mothers to remember that 1st Trimester risk assessment Screen testing is NOT a diagnostic test and that up to 10% of babies with Down syndrome or Trisomy 13 or 18 will NOT show an increased risk on 1st Trimester risk assessment Screen testing. The first trimester screen is a screening test that does not diagnose or rule out any specific condition.
In addition 1st Trimester risk assessment Screen testing does not provide risk assessment for other chromosome abnormalities that would be detected through amniocentesis.
- If you choose to have the 1st Trimester risk assessment Screen Test, you will have the ultrasound portion of the first trimester screen and we will draw your blood as well. The ultrasound measurements and your blood will be sent to the lab. When results are available our Genetic Counselor will contact you to give those results and answer any questions you might have about them at that time.
What Are Down Syndrome, Trisomy 13, and Trisomy 18?
Down syndrome is caused by an extra copy of chromosome 21 (Trisomy 21). Down syndrome results in physical and mental retardation and birth defects, most often of the heart and/or the digestive tract. Down syndrome affects approximately 1 in 800 babies. Women age 35 years and over are more likely to have a baby affected with Down syndrome; however, most cases of Down syndrome occur in women under the age of 35.
Trisomy 18 is caused by an extra copy of chromosome 18. Trisomy 13 is caused by an extra copy of chromosome 13. Both Trisomy 13 and Trisomy 18 result in severe physical and mental retardation and multiple birth defects. Most babies with Trisomy 13 or 18 are stillborn or survive only a short period of time following birth. Few will survive the first year of life.
Chromosomes: Chromosomes are where our genetic material is packaged. Most people have 23 pairs of chromosomes. One set of the pair comes from the mother and the other from the father. The first 22 pairs are ordered from largest to smallest and are the same in both men and women. The 23rd pair determines gender – women have two X chromosomes and men have one X chromosome and one Y chromosome.
What If My Test Shows an Increased Risk?
It is important for all mothers to remember that if their 1st Trimester risk assessment Screen testing shows an increased risk for Down syndrome or Trisomy 13 or 18 it does NOT mean that the baby has the problem, only that they may want to consider more definitive testing.
If 1st Trimester risk assessment Screen testing shows an increased risk for Down syndrome or Trisomy 13 or 18, your doctor will refer you for genetic counseling to explain the results and discuss your options for further testing. These options may include definitive testing by amniocentesis or additional non-invasive evaluation by a detailed targeted, genetic ultrasound evaluation.
About 90% of babies with Down syndrome and Trisomy 13 or 18 will have a positive result from the first trimester screening. However, a negative screening result does not eliminate the possibility that the baby may have Down syndrome, Trisomy 13 or 18, or other chromosomal abnormality. Furthermore, normal results can never guarantee the birth of a normal baby. 2-3% of newborns have some type of physical or mental defect, many of which are undetectable through any known prenatal diagnostic technique. If this test shows you have an increased risk, it does not mean that your baby has a problem, only that further evaluation of your pregnancy is indicated. Genetic counseling and diagnostic testing is available if your results indicate and increased risk.
When Can I Do 1st Trimester Risk Assessment Screen Testing?
The blood sample for 1st Trimester risk assessment Screen testing can be obtained as the early as 9 weeks gestation. The ultrasound NT measurement is performed between 11 weeks 3d and 13 weeks 6d gestation.
How Can I Make My Visit as Efficient and Effective as Possible?
If you are referred to Perinatal Center of Florida 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 Perinatal Center of Florida forms that can be downloaded and filled out ahead of time to streamline your office visit.