Tallahassee Perinatal Consultants, TPC, wants to work as partners with you and your family along with your obstetrical care provider. We offer many services that promote wellness and optimal care for women during their pregnancy.
High-risk Pregnancy Consultations
A pregnancy is considered high risk when there are potential complications that could affect the mother, the baby, or both. Specific medical conditions include: high-blood pressure, diabetes, lupus and other immune conditions, heart or lung problems, or chronic infections. A history of multiple miscarriages, preterm labor, pre-eclampsia, and or genetic disorders may also be considered a high risk pregnancy.
Baby complications that make a pregnancy high risk may include growth problems, birth defects detected on ultrasound, genetic disorders, abnormal fluid around the baby, and a pregnancy with more than one baby.
The patient is initially referred to Tallahassee Perinatal Consultants for consultation by their primary obstetrician, family practitioner, or midwife and we work closely with them to try to achieve the best possible pregnancy outcomes. If necessary, we may refer you to other specialists that will help with your treatment.
In addition, we offer other services such as pre-conception counseling. This service is offered prior to pregnancy for individuals or couples at risk for certain genetic disorders, birth defects, those who have had several miscarriages, or who have certain medical conditions and are taking medications that may be harmful to their future developing baby. If available, testing for various genetic conditions may be discussed including the risks, benefits, and limitations of the test.
We also offer diabetes and hypertension management in pregnancy. We encourage patients and their families to take control of their treatment. We work together as a team to improve maternal and fetal outcomes.
Our mission is to provide comprehensive and compassionate care in a warm and family-friendly environment. Through communication and support, we hope to relieve the anxiety associated with a high risk pregnancy and provide comfort and optimism.
An obstetrical ultrasound is done to visualize the baby, fluid and placenta. It can be done through the abdomen but occasionally a vaginal ultrasound will provide better images of the pregnancy. It is a medical exam of your baby that does not use x-rays, but rather sound waves. No dangerous fetal effects or birth defects have been reported with its use for diagnostic purposes. The procedure is performed by sonographers and/or the physician and all the images are reviewed by the physician.
Common reasons for performing an ultrasound include dating, evaluation of the baby to detect any birth defects, evaluation of the placenta, fetal sex determination, measurement of the cervix and others. The Federal Drug Administration (FDA) discourages the use of ultrasound for recreational purposes. However, if possible, we are happy to provide you with images of your little angel.
Genetic ultrasound is used to evaluate a fetus that is at risk for chromosomal problems (like Down syndrome) or other genetic problems. It is typically used in combination with blood tests to identify patients who are at higher risk for having babies with these problems.
The genetic ultrasound typically consists of two studies. The first study is done around 11-13 weeks and attention is paid to the back of the baby's neck and nose. A second ultrasound is done at approximately 20 weeks and all the organs are evaluated with careful evaluation of the brain, face, spine, heart, intestines, kidneys and extremities.
Typical indications for genetic ultrasound include advanced maternal age, a previous baby with a genetic problem, an abnormal finding on a previous ultrasound, and abnormal screening blood tests. No dangerous fetal effects have been described with the use of genetic ultrasound.
The genetic ultrasounds are typically performed by experienced sonographers and/or our doctor, all of which are board certified in obstetrical ultrasounds.
A fetal echocardiogram is an ultrasound study used to evaluate the baby's heart. Generally it is performed at approximately 22 weeks when the baby’s heart size is about the size of a quarter. Fetal heart defects may be serious, so it is important to try to identify them early so plans can be made for appropriate referrals, delivery and nursery care.
Some reasons to perform a fetal echocardiogram include pre-gestational diabetes, a previous child with a congenital heart problem, heart problems in the family, abnormal fetal heart beat, use of some medications and abnormal genetic (chromosomal) screening.
Fetal echocardiogram requires experience and time. Even in the best hands, not all the fetal heart problems can be diagnosed. If the gestational age is early or the baby's position make the heart difficult to visualize, some views of the heart are limited. On occasion it is necessary to bring the patient back at a later date to complete the evaluation.
No dangerous fetal effects have been described with the use of sonography to evaluate the baby's heart. Tallahassee Perinatal Consultants has an experienced doctor that is certified in advanced fetal echocardiography. Our doctor will explain to you the procedure, findings and recommendations.
At Tallahassee Perinatal Consultants, we talk to all patients about optional screening for chromosomal problems such as Down syndrome, trisomy 18 and trisomy 13.
Chromosomes are the structures that hold our genes. Genes are the individual instructions that tell our bodies how to develop and keep our bodies running healthy. In every cell of our body there are approximately 20,000 genes that are located on 46 chromosomes. These 46 chromosomes occur as 23 pairs. We get one of each pair from our mother in the egg, and one of each pair from our father in the sperm. The first 22 pairs are labeled longest to shortest. The last pair are called the sex chromosomes labeled X or Y. Females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). Therefore, everyone should have 46 chromosomes in every cell of their body. If a chromosome or piece of a chromosome is missing or duplicated, there are missing or extra genes respectively. When a person has missing or extra information (genes) problems can develop for that individual’s health and development.
For patients who meet "high-risk" criteria, we may also discuss a non-invasive prenatal testing method called cell-free fetal DNA. Although all patients begin with an age-related risk for having a baby with a chromosome problem such as Down syndrome or trisomy 18, these screens allow us to identify pregnancies that may be at a higher risk of being affected by one of these chromosome conditions. First and second trimester screens and cell-free fetal DNA are done by performing a maternal blood draw and therefore do not pose any risk to the baby. As with any type of screen, some patients can have false positive or false negative results.
If the first or second trimester screen results return as positive, we recommend discussing other testing options such as non-invasive prenatal testing with cell-free fetal DNA or diagnostic testing with a genetic amniocentesis.
First Trimester Screening
The first step of first trimester screening involves an ultrasound measurement of the skin on the back of the baby's neck, referred to as the nuchal translucency. This first ultrasound is performed during 11-14 weeks of pregnancy. Babies who have Down syndrome or other chromosome conditions or birth defects tend to have a thickening of the skin on the back of the neck, although not all babies who have a thickening of the skin have genetic conditions or birth defects. The second part of first trimester screening involves taking some blood from the mother so that certain chemicals the baby is making can be measured. The first blood sample is taken via a finger stick the same day as the 11-14 week ultrasound. Mothers whose babies who have Down syndrome, trisomy 18 or spina bifida tend to have a different amount of certain chemicals in their blood. After the ultrasound measurement and blood sample(s) are taken and the mother's age related risk is factored in, the patient is given an adjusted risk number for Down syndrome, trisomy 18 and spina bifida that is specific to her baby.
Second Trimester Screening
Second trimester screening only involves a blood draw during the 15th - 21st week; it does not include an ultrasound and blood sample at 11-14 weeks of pregnancy. Therefore, the detection rate for Down syndrome and trisomy 18 is lower in second trimester screening than the detection rate of first trimester screening.
Cell Free Fetal DNA Testing
A screening test called the cell free fetal DNA test is available for all women. A small amount of fetal DNA circulates in the mother’s blood. This DNA mainly comes from the placenta. The cell free fetal DNA in a sample of the mother’s blood can be screened for Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities. In women who are at high risk of having a baby with a chromosome disorder, this test is 99% accurate in detecting cases of Down syndrome and has a low rate of false-positive results. This test can be done as early as 10 weeks of pregnancy in some women. Results take about 1 week to process.
At this time, the cell free fetal DNA test is recommended only for women who have an increased risk of having a child with a chromosome disorder, such those older than 35 years and those with an abnormal ultrasound, abnormal first or second trimester screen result, or women who already have a child with a chromosome disorder. It is not recommended for women at low risk of having a baby with a chromosome disorder or women carrying more than one baby because it has not been tested sufficiently in these groups.
The cell free fetal DNA test has certain limitations. It does not screen for neural tube defects. An additional screening test needs to be done to check for these disorders, however, neural tube defects may also be detected on ultrasound. In addition, although it is highly accurate in detecting chromosome problems in high-risk women, it is not as accurate as diagnostic tests. If you have a positive cell free fetal DNA test result, diagnostic testing (amniocentesis) is recommended.
The above genetic screening tests will not tell you “yes” or “no” if your baby has a chromosomal condition such as Down Syndrome; instead it will tell you if there is a high or low possibility of your baby having the condition.
An important issue to consider is how much this test will cost. Cell free fetal DNA testing is not considered standard of care and some insurance companies consider this test "experimental." It is important to check with your insurance if you have concerns about the cost of this screening test.
Genetic amniocentesis is a procedure offered at Tallahassee Perinatal Consultants for diagnosis of certain genetic disorders, chromosome abnormalities, or specific birth defects. It is generally performed after 15 weeks of pregnancy. You may be offered an amniocentesis if you will be 35 or older at the time of delivery, if birth defects are seen on ultrasound, or if screening tests return with an abnormal result. The results of amniocentesis will show the baby's chromosomes, which can diagnose or exclude conditions such as Down syndrome.
The amniocentesis procedure is done with ultrasound guidance, so that a pocket of fluid away from the baby can be found. The amniotic fluid, which surrounds the baby during the pregnancy, contains skin cells shed by the baby. A small sample of the fluid is taken through a thin needle, which does not touch the baby, and the fluid is sent to a laboratory for testing. There is a small risk with amniocentesis; probably less than 1 out of 750 procedures performed may result in miscarriage.
Carrier Testing for Common Genetic Diseases
TPC offers optional carrier testing for the most common genetic diseases before or during pregnancy. Carrier testing is not able to detect all of the genetic abnormalities that cause a particular disease.
There are a few common inherited diseases that may affect an individual even if they do not have a family history for that disease. Examples of these diseases include cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. A blood test can help determine if you are a carrier for one of these diseases. Both parents must be carriers for the baby to be at an increased risk for developing the disease.
CF is a chronic disease that affects the respiratory, digestive, and reproductive systems.
Fragile X syndrome is a disease that causes developmental and mental delay, autism, and hyperactivity.
SMA is a rare disease that destroys nerve cells that causes infants or children to lose muscle control that affects breathing, swallowing, and movement.
You may be a carrier of the above diseases and not be aware of it. We have information regarding the above medical conditions and screening. Please speak to our physician if you have additional questions or concerns regarding carrier testing. In addition, please check with your individual insurance company to see if they will cover screening for the above medical conditions.