Reasons to see a Maternal-Fetal Medicine Specialist

Patients undergoing diagnostic or therapeutic procedures during pregnancy, such as:

  • Comprehensive ultrasound (sonogram) for fetal anatomy
  • Chorionic villus sampling (CVS)
  • Genetic amniocentesis
  • Umbilical artery Doppler studies
  • Percutaneous umbilical cord sampling
  • Fetal transfusion
  • Fetal surgery or therapy (shunt placement)

Women with medical or surgical disorders, such as:

  • Heart disease
  • High blood pressure
  • Preeclampsia (toxemia)
  • Diabetes or other endocrine disorders
  • Kidney or gastrointestinal disease
  • Infectious diseases
  • Recurrent thromboembolism or thrombophilia (blood clots)
  • History of pregnancy complications
  • Maternal cancer
  • Exposure to potentially harmful medications or chemicals
  • Carriers of genetic disease

Healthy women whose pregnancy is at risk for complications such as:

  • Abnormal first trimester screening (Down syndrome, trisomy 18)
  • Abnormal second trimester screening (Down syndrome, trisomy 18, spina bifida)
  • Multiple gestations (twins, triplets or more)
  • Recurrent pre-term labor and delivery
  • Premature rupture of membranes
  • Recurrent pregnancy loss
  • Suspected fetal growth restriction (baby not growing enough)
  • Neonatal alloimmune thrombocytopenia
  • Hemolytic disease of the newborn from Rh sensitization

Reasons to see a genetic counselor

Anyone who has questions about the risk for themselves or their children to have a genetic condition or birth defect should see a genetic counselor. This consultation can be scheduled before a couple becomes pregnant or during early pregnancy. Following are the most common indications a woman or couple should see a genetic counselor:

Advanced maternal age (35 or older at time of delivery)
It has been known for many years that as women age, the risk to have a baby with a chromosome problem increases. While women over the age of 35 have routinely been offered additional screening or testing options during pregnancy, women under the age of 35 can have a baby with a chromosome problem. There are several screening tests available that can help you learn your pregnancy's risk or chance to have a chromosome condition like Down syndrome. For those who wish to know 100 percent if a pregnancy is affected with a chromosome condition, chorionic villus sampling and amniocentesis are available.

Request for pregnancy screening or testing at any maternal age
In 2007, the American College of Obstetrics and Gynecology (ACOG) recommended that women of all ages be offered screening and invasive testing for chromosome conditions. The decision to have testing is a personal one. You may wish to speak with you obstetrician early in pregnancy to learn about your testing options. It is important to remember that all tests are optional.

Abnormal maternal serum screening at obstetrician
You may be referred to our center if a blood test called maternal serum screening ("AFP" or "quad screen") shows an increased risk for Down syndrome, trisomy 18 or a neural tube defect. A genetic counselor will review your test result with you as well as discuss your options for further testing. A level II ultrasound will be performed to see if any soft signs/markers are present in your baby. You will meet with the Maternal-Fetal Medicine specialist to discuss the results of your ultrasound. It is important to remember that most pregnancies that have a "positive" maternal serum screening still result in healthy babies.

Presence of soft signs on ultrasound
Soft signs or soft markers are physical features or findings seen on an ultrasound that increase the risk for a chromosomal abnormality in the pregnancy. Some soft markers increase the risk for a chromosome problem more than others. You may be referred to the Center for Maternal and Fetal Care when an ultrasound performed at your obstetrician's office showed a soft sign or possible problem. Through level II ultrasound, we will attempt to learn if a problem exists, the cause of the problem and whether any treatment or diagnostic tests are available.

Medication or chemical exposure
Many women express concerns about the use of medication during pregnancy. Some women have a medical condition such as diabetes, hypertension, or lupus that is treated with prescription medication. Other women have concerns about the use of over the counter medications, herbal supplements or street drugs during pregnancy. If you would like to learn more information about the possible effects of medications on pregnancy, speak with your physician about a referral to the Center for Maternal and Fetal Care. Consultation with either a genetic counselor or a Maternal-Fetal Medicine specialist can be arranged to answer your questions.

Maternal condition (diabetes, hypertension)
If you have diabetes, hypertension or other medical condition, you may have questions about the effect of your condition on a pregnancy. Maternal-Fetal Medicine specialists are uniquely trained to manage pregnancies in which the mother has a medical condition. In many cases, recommendations can be made to reduce the chances for complications in pregnancy. Speak with your obstetrician if you would like to have a consultation with a Maternal-Fetal Medicine specialist. Our specialists work in close contact with your obstetrician to manage your pregnancy.

Family history of genetic condition, birth defect, or other condition
You may be referred to a genetic counselor when someone in your family has a genetic condition, was born with a birth defect or has a medical problem. Examples of these conditions include Down syndrome, spina bifida, congenital heart defects, cystic fibrosis, fragile X syndrome, muscular dystrophy, diabetes, mental illness, breast or colon cancer and many more. A genetic counselor will take your family history in detail to determine if you or your children are at risk to have the problem that has occurred in your family. In some cases, genetic testing or prenatal diagnosis by ultrasound or amniocentesis is available to learn more information. When genetic testing is not available, the genetic counselor may recommend informing your primary physician or pediatrician of the history so further screening may be done.

Ancestry screening (Cystic fibrosis, Tay Sachs, Sickle cell anemia)
Individuals of certain ethnic backgrounds are at increased risk to be carriers of certain genetic conditions. For example, individuals of a Caucasian background are at an increased risk to have children with cystic fibrosis, a lung condition that leads to mucous buildup and infection. African American individuals are at risk to have a child with sickle cell disease. Persons with Italian, Jewish, or Asian backgrounds are also at risk to be carriers for certain genetic conditions. Genetic testing is available to determine if a person is a carrier of some genetic conditions. Fortunately, being a carrier does not cause health problems or disease. However, if both members of a couple are carriers for the same genetic condition, their children would be at risk to have that genetic condition. For this reason, you may be referred to see a genetic counselor if you have had a positive ethnic screening test performed at your physician's office or if you would like to speak to a counselor regarding possible testing for you and your partner

Recurrent pregnancy loss
There are many causes of recurrent miscarriage, some of which are genetic. You may be referred to a genetic counselor if you have had two or more unexplained miscarriages. The genetic counselor would review your medical history and discuss possible genetic causes of your miscarriages. Some couples who have multiple miscarriages will have a rearrangement in one of their chromosomes. A blood test can confirm if this is the cause of your miscarriages. Other couples may learn that their miscarriage had an abnormal number of chromosomes and may wonder if they may be at risk for similar problems in future pregnancies. If either of these situations has occurred, speak with your physician to determine if you are a good candidate for genetic counseling and genetic testing.

Infertility/Treatment (IVF, PGD)
Women of all ages may be referred to a genetic counselor at some point during their evaluation for infertility. You should speak with your physician to determine if you would benefit from genetic counseling. Examples of reasons why a couple would seek genetic counseling include recurrent pregnancy loss, males with absent or low sperm count, a chromosome abnormality in one of the members of the couple and being a carrier of certain genetic disorders. Your genetic counselor will take a complete family history and may offer certain genetic tests to better understand your situation. Unfortunately, treatment may not exist to correct the genetic predisposition for miscarriage or infertility. However, certain tests are available that can aid a couple in determining if their pregnancy will be affected with a genetic problem or to determine if they are a candidate for certain fertility treatments.