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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.
Fetal Diagnosis and Screening
Fetal screening can determine if a pregnancy is at an increased risk. For couples found to be at an increased risk, fetal diagnostic procedures can help to better define the disorder.
Fetal diagnosis is the process of identifying and evaluation the pregnancy at risk for birth defects and genetic disorders. Specific samples for prenatal testing can be obtained through amniocentesis. Laboratory testing of the samples always includes fetal chromosome analysis. These results are generally available within 7-10 days. Alpha-fetoprotein studies to screen for Spina bifida and other birth defects are routinely done on amniotic fluid samples, as well. When indicated by family history, additional biochemical and DNA testing can also be done.
While some couples are at an increased risk for these conditions due to maternal age or family history, all pregnancies have a 3-5% risk for birth defects, mental retardation, or genetic disease.
Ultrasound or “Sonogram” is a safe non-invasive imaging procedure when performed by experienced Certified Ultrasonographers (Ultrasound Tech) that can provide valuable information about your fetus and pregnancy. Sound waves are used to produce a “picture” of the fetus within the uterus. Ultrasound provides basic information such as the number of fetuses, gestational age, fetal growth, placental location, and amniotic fluid volume.
Ultrasound also allows for a more detailed examination of fetal organs and anatomy. This allows the diagnosis of many birth defects that would not be detected by other testing methods.
Counseling by an experienced Board Certified Genetic Counselor is an important part of the fetal diagnosis process. The counselor obtains a detailed family history which can often identify risk factors for which you may desire testing. If risk factors are identified, we can then discuss available testing, the procedures involved, as well as the benefits, risks, and limitations for your specific set of circumstances.
Amniocentesis is a diagnostic procedure in which cells in the amniotic fluid surrounding the fetus are obtained for testing. This is done by inserting a small diameter needle through the mother’s abdominal wall and into the amniotic sac while continuously observing with ultrasound. About two tablespoons of the amniotic fluid are removed.
Amniocentesis has been traditionally performed between 15-18 weeks gestation. In selected patients it can be safely performed as early as 14 weeks.
When performed by an experienced physician, amniocentesis has a low risk for procedure related miscarriage and does not increase the risk for birth defects in the fetus.
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.
Diabetes and Pregnancy
Diabetes mellitus (DM) is a disease state that is complicated by the hormonal changes of pregnancy. Women with Type 1 DM, Type 2 DM, or Pre-diabetes should be seen by a specialist as soon as a pregnancy is confirmed.
Gestational diabetes mellitus (GDM) is defined as any degree of glucose intolerance with onset or first recognition during pregnancy. It does not exclude the possibility that unrecognized glucose intolerance may have existed before or began simultaneously with the pregnancy. All pregnant women should be screened for GDM by their Obstetrician between 24-28 weeks. Women with a higher risk for GDM should be screened at their first prenatal visit and then again at the standard time if they passed the early screen.
A pregnant woman with pre-existing diabetes or GDM is encouraged to meet with a certified diabetes educator (CDE) for education and management of their diabetes throughout the pregnancy. This is usually a Registered Nurse (RN) or Registered Dietitian (RD) that specializes in nutrition intervention for the care of diabetes.
The consultation includes education on the diagnosis and progression of diabetes as well as the potential risks to both mother and child. Patients are taught how to monitor their blood glucose with a personal glucometer and are provided an individualized meal plan. Important topics such as healthful eating for pregnancy, exercise, and managing weight gain is also covered.
Patients are provided the necessary tools to help manage their diabetes along with weekly review and feedback from the diabetes team. If diet and exercise are not enough to control blood glucose for the entire pregnancy, medication may be added to the care plan and reassessed routinely to achieve optimal outcomes.
Our diabetes team is here to offer continuing education and support to patients with diabetes from conception to delivery and everything in between.
Terms and Conditions
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