What Is Maternal-Fetal Medicine?
Maternal-Fetal Medicine (MFM) physicians, also known as perinatologists, are high-risk pregnancy experts, specializing in reading ultrasounds in pregnancy and treating the non-routine. For moms-to-be with chronic health problems, we work with other specialists in an office or hospital setting to keep mom healthy as her body changes and her baby grows. We also care for moms who face unexpected problems that develop during pregnancy, such as early labor, bleeding, or high blood pressure. We’re the go-to for moms who arrive in the hospital while they are pregnant for any reason, whether after an accident or at the onset of a kidney infection. In other cases, it’s the baby who faces the non-routine. If we find birth defects or growth problems, we can start treatment before birth, providing monitoring, blood transfusions and surgery to support babies with the best possible care until they are ready to arrive in the world.
A maternal-fetal medicine sub-specialist is an OB/Gyn who has completed 4 years of medical school, 4 years of Ob/Gyn training (residency), and an additional 2-3 years of additional education and clinical experience (fellowship) to develop specialized skills to help both the mom and baby before and during a non-routine pregnancy. Our training includes both medical treatment and complex procedures for moms and babies. We are high-risk pregnancy experts.
Our extra training enables us to conduct and interpret research on new approaches for pregnancy problems. Through educational courses, development of clinical protocols, and research, we share our knowledge of optimal care for complicated pregnancies with others. Our overarching goal is to improve outcomes for moms and babies.
Maternal-fetal medicine physicians partner with multiple caregivers to consult, co-manage or care directly for complicated situations, both before, during and after pregnancy. We know it takes a team --starting with the mother and her family--to navigate the non-routine and achieve the best possible outcome.
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. The procedure is done by sonographers and all the images are reviewed by the doctors.
Some common reasons include dating, evaluation of the baby's anatomy, evaluation of the placenta, fetal sex determination, measurement of the cervix and others. On some occasions, and depending on gestational age and the position of your baby, a 3-D ultrasound is performed.
Unlike x-rays, ultrasound uses sound waves. No adverse fetal effects or birth defects have been reported when using this tool for diagnostic purposes. The Federal Drug Administration (FDA) discourages the use of ultrasound for recreational purposes.
At Piñon Perinatal, we welcome your family members to share with you the experience of having an obstetrical ultrasound. We will provide you with images so you can show your baby to family and friends.
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 could be included.
The patient is initially referred to Piñon Perinatal for consultation by their primary obstetrician 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.
We are dedicated to providing comprehensive and compassionate care in a warm and family-friendly environment. Through good communication and support, we hope to reduce the fear and anxiety that a high-risk pregnancy may induce.
A fetal echocardiogram is an ultrasound study used to evaluate the baby's heart. As fetal heart defects are serious, it is important to try to identify these problems early so plans can be made for appropriate referrals, delivery and nursery care. Rarely, some heart conditions will require delivery out of state at a specialized center.
Some indications for fetal echocardiogram include pre-gestational diabetes, a previous child with a congenital heart problem, heart problems in the family, advanced maternal age, abnormal fetal heart beat, use of some medications and abnormal genetic (chromosomal) screening.
The study 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 see, some views of the heart are limited. On occasions it is necessary to bring the patient back at a later date to complete the evaluation.
No adverse fetal effects have been described with the use of sonography to evaluate the baby's heart. Piñon Perinatal has an experienced group of sonographers certified in advanced fetal echocardiography. Our maternal-fetal medicine doctors will explain to you the procedure, findings and recommendations.
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 baby's neck and nose. A second ultrasound is done around 18 weeks and all the organs are evaluated with careful evaluation of the brain, heart, intestines, kidneys and extremities.
Typical indications for genetic ultrasound include advanced maternal age, a previous baby with a genetic problem, an abnormal previous ultrasound, and abnormal screening blood tests. No adverse fetal effects have been described with the use of genetic ultrasound.
The genetic ultrasounds are typically performed by experienced sonographers. At Piñon Perinatal we have a group of experienced doctors and genetic counselors who can explain all the findings and all options available to you.
While you are being cared for at Piñon Perinatal, you will likely meet with one of our genetic counselors. Genetic counselors are Master's degree-trained health care professionals educated at accredited genetic counseling training programs. Genetic counselors work in a variety of settings and provide education and counseling in many areas of the medical field including prenatal genetics, preconception, infertility and pre-implantation genetic diagnosis. The process of genetic counseling involves obtaining and interpreting family, medical and pregnancy histories to assess risk for genetic conditions or birth defects; educating patients about the inheritance of genetic disorders found in their families; identifying and offering appropriate screening and testing options to determine a patient's risk for having a child with a genetic condition such as Down syndrome; guiding patients through the process involved in deciding whether to pursue screening or testing; and helping patients and their families cope with a prenatal diagnosis of a genetic condition or baby with birth defects.
At Piñon Perinatal, our genetic counselors talk with patients about first and second trimester screening and testing options for Down syndrome, educate patients about potential increased risks related to maternal health conditions or exposures during pregnancy, and meet with patients whose babies are found to have birth defects.
First and Second Trimester Genetic Screening
At Piñon Perinatal, our genetic counselors talk with patients about optional first and second trimester screening for Down syndrome, trisomy 18 and spina bifida. For patients who meet "high-risk" criteria, our genetic counselors 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 or spina bifida. First and second trimester screens and cell-free fetal DNA 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 meeting with our genetic counselors to discuss other testing options such as non-invasive prenatal testing with cell-free fetal DNA or diagnostic testing with 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. Some of the first trimester screening options also involve a blood draw from the arm during the 15th – 21st week of pregnancy. 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.
Click here for First Trimester Risk Assessment for Down Syndrome Presentation
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. Our genetic counselors call all patients with their first or second trimester screening results and results are also forwarded to patients' obstetricians.
Cell Free Fetal DNA Testing
A screening test called the cell free fetal DNA test is available for certain 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. 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.
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 cost.
Genetic amniocentesis is a procedure offered at Piñon Perinatal for diagnosis of certain genetic disorders, chromosome abnormalities, or specific birth defects. 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. Levels of certain substances made by the baby during pregnancy are measured to assess risk for neural tube defects such as spina bifida.
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. The procedure is usually performed after 15 weeks of pregnancy.
Genetic counseling 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. If there is a family history of a genetic condition, testing for the parents or the pregnancy can be discussed, including the risks, benefits, and limitations of the test. If there is a family history of birth defects, the causes of the birth defects and any association with a genetic condition will be discussed. For couples who have had 3 or more miscarriages, the genetic counseling session will cover possible causes of those miscarriages, as well as the availability of testing for the parents to identify the cause. For parents who themselves have certain medical conditions, this is the time to discuss the role those conditions may play during pregnancy. Medications taken to treat those medical conditions will be discussed, along with any concerns regarding exposure during pregnancy.
Preconception genetic counseling gives individuals and couples the opportunity to discuss their family, pregnancy, and medical histories, as well as any options they have for future pregnancies.
Gestational diabetes mellitus (GDM) is a pregnancy complication identified by elevated blood sugar. It is identified with a glucose test usually performed between 24 and 28 weeks. When GDM is diagnosed, your provider will refer you to Piñon Perinatal for consultation. Our diabetes educators will teach you how to choose appropriate foods that will help maintain a normal blood sugar and how to test your blood sugar. You will also have monthly ultrasounds to evaluate the baby's growth. In spite of a eating a good diet, sometimes medications may be needed to help control your blood sugar.
Pre-gestational diabetes is defined as diabetes that is present prior to pregnancy. When someone has pre-gestational diabetes, they are at risk for several pregnancy complications including pre-eclampsia, preterm delivery, congenital anomalies, miscarriage and growth restriction. With the proper intervention, these risks can be reduced.
We offer complete and comprehensive diabetes management for pregnant women who are newly diagnosed with gestational diabetes as well as for those who are diabetic prior to the pregnancy. We have two experienced and knowledgeable diabetes educators who are certified in clinical diabetes education. We encourage patients to take control of their treatment. The patient, diabetes educators, and providers work together as a team to improve maternal and fetal outcomes.
In some instances, the baby may develop anemia in utero. One of the most common reasons for this is when the mother develops antibodies against the baby's blood. The only option to save the baby may be to perform intrauterine fetal blood transfusion.
In this procedure, the doctor will use the ultrasound machine to look for the baby's blood vessels running in the umbilical cord. A needle is inserted into the small vessel and, if necessary, blood products are given.
The procedure is technically difficult as the baby's blood vessels are small and sometimes located in an area not easily accessible. This procedure is done at the hospital and under maternal sedation. The doctors at Piñon Perinatal are trained and have extensive experience in performing fetal transfusions.