Providing personalized genetic and preconception counseling

Most babies are born healthy. For the three to five percent born with some type of birth defect, however, the Maternal-Fetal Medicine program at The Ohio State University Wexner Medical Center offers hope and help to families.

Here, we offer physician-directed genetic and pre-conception counseling. You’ll learn about your risk factors before a pregnancy or, if you’re carrying a child with a birth defect, you'll learn more about the defect and available treatment options. Together with your primary Ob/Gyn, our maternal fetal medicine physicians work with you to assess your level of risk and to verify and diagnose any abnormality. Then we provide personalized, comprehensive counseling, education and fetal treatment options.

Our Services

Preconception screening and risk assessments

We review your personal or family history, medication or drug exposure, parental age, and other factors to help determine whether you have an increased risk for having a baby with certain birth defects. Depending on your personal risk factors, we offer carrier screening and testing options that help further evaluate this risk. We also counsel families who have had a child with a birth defect to try to determine the cause, if possible. 

Prenatal screening and diagnosis

We offer many prenatal evaluations, fetal monitoring and screening tools that are designed to answer your questions, and detect or rule out potential issues with your baby’s development. Any information learned during pregnancy about fetal abnormalities is used to develop an individualized treatment and delivery plan before birth. 

Common screenings and diagnostic procedures include:

This screening at 15 weeks involves extracting a small sample of amniotic fluid to identify or rule out chromosome abnormalities such as Down syndrome, birth defects such as spina bifida, or genetic conditions, such as cystic fibrosis.

Carrier Screening:
Carrier screening can help determine if you or your partner could pass a genetic condition on to your child. Testing examines DNA for changes in a number of genes to determine if a parent is a carrier. Healthy people with no family history can be carriers for genetic disorders. While most people get reassuring results, we will discuss further testing options if an increased risk is identified.

Cervical Length Assessment:
This examination uses transvaginal ultrasound to verify an incidental finding of a potentially short cervix that could lead to preterm delivery.

Cell-Free DNA Screening:
This is a blood test done after 9 weeks of pregnancy. Small pieces of genetic material (DNA) from the pregnancy are in a mother’s blood and are tested to check if a baby is at higher risk for Down syndrome and other genetic chromosomal conditions. This is a screening test and does not give a definite answer. Further testing maybe done if cell‐free DNA screening indicates a pregnancy is at high risk.

Chorionic Villus Sampling (CVS):
This diagnostic test at 10-12 weeks takes a sample of the developing placenta for laboratory analysis to identify or rule out chromosome abnormalities, such as Down syndrome and certain genetic disorders, such as cystic fibrosis.

Doppler Study:
This specialized ultrasound screening measures blood flow through a variety of blood vessels including the umbilical cord and brain.

Fetal Blood Sampling (Cordocentensis):
This blood test takes a small amount of baby’s blood from the umbilical cord for laboratory analysis to help in diagnosing and monitoring a variety of conditions.

Fetal Echocardiogram:
This special ultrasound evaluates the structure and function of baby’s heart before birth to detect congenital heart defect.

Microarray Analysis Screening:
This is a detailed test that looks for extra or missing pieces of genetic material (DNA) which may cause problems with growth and development. It can detect a variety of genetic conditions and is performed on blood, amniotic fluid or placental tissue.

Targeted Ultrasound:
This state-of-the-art imaging technique evaluates baby’s size, position and development in diagnosing developmental abnormalities.

Ultrascreen Instant Risk Assessment/First Trimester Screening:
This early pregnancy screening is done at 11-13 weeks and combines a blood test with ultrasound to deliver a personalized risk assessment for Down syndrome, trisomy 18 and trisomy 13.

Quad Screening:
This blood test administered at 15-22 weeks screens for open neural tube defects (NTDs), such as spina bifida and anencephaly, abdominal wall defects, and chromosome changes, such as Down syndrome and trisomy 18.

Counseling and education

Our board-certified and licensed prenatal genetic counselors provide information and support to families who may have an increased risk for having a child with a birth defect or genetic condition. If your baby is found to have a developmental abnormality, your counselor can provide valuable resources or referrals; most of the time we provide reassurance that your pregnancy is going well.

Fetal Treatment Program

Only a small number of pregnancies require medical or surgical treatments before delivery. For those rare occurrences, our specialists intervene during pregnancy to treat a developing fetus in the womb to correct problems before birth, with the goal of helping the baby not just in the early stages of life, but also throughout the baby’s development.

Learn more

Why Choose Ohio State?

For women and families experiencing uncertainty surrounding the potential risks or the diagnosis of a developmental abnormality, Ohio State’s Wexner Medical Center’s Genetics and Preconception Program provides personalized care, support and education.

Our genetics and preconception counseling team is led by a maternal fetal medicine physician who is dual board-certified in both medical genetics and obstetrics and gynecology. She is one of only 200 maternal fetal medicine doctors nationwide, and the only one in central Ohio, with these credentials to address high-risk obstetric complications, as well as pediatric and adult genetic medical conditions. Her expertise can help you better understand your risk of having a baby with a birth defect or genetic condition¾and better prepare you for what to expect when baby arrives.

Your care team also includes three board-certified prenatal genetic counselors that draw upon a collective 40 years of experience in the field. And, because we’re part of an academic medical center, you’ll have access to innovative research, medical expertise and the latest technologies and treatments. In fact, our maternal fetal medicine physicians are actively involved in clinical research and have participated in the development and testing of many of the screening procedures and treatments we offer.

Our Patients

Women and families come to us for personalized genetic and preconception counseling due to a family or personal history of a genetic condition, difficulty in getting pregnant, or multiple miscarriages or infant deaths. You may wish to seek genetic counseling if:

  • You are/will be 35 years of age or older when you deliver. The odds of having a child with a chromosomal change, such as Down syndrome, increase with maternal age.
  • A screening or diagnostic procedure revealed an increased risk for a fetal abnormality.
  • An ultrasound identified a possible abnormality in baby’s development, such as cleft lip, spina bifida or heart defect.
  • You and your partner are close relatives, such as first cousins.
  • Your ethnic or racial heritage puts you at higher risk for certain genetic conditions. For example, couples of African descent have a higher chance of having a child with sickle cell anemia; couples of European Jewish (Ashkenazi) or French Canadian descent have a higher risk for Tay-Sachs disease; and couples of Italian, Greek or Middle Eastern descent have a higher chance to carry the gene for thalassemia, a blood cell disorder.
  • You have identified a condition in a close relative that raises concern for this pregnancy to be at risk.

Amniocentesis: Testing for genetic abnormalities

Amniocentesis, which involves use of a fine needle to extract amniotic fluid, can detect chromosome abnormalities or other genetic deficiencies.

Genetic Testing with In-vitro Fertilization

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