Accurate diagnosis and careful monitoring are essential to providing the most effective treatment for a full range of fetal diagnoses.
If your baby has been diagnosed with a complex fetal condition, our team may suggest additional testing to confirm the diagnosis and/or to obtain more information about potential management and treatment options to be included in your personalized care plan.
While no one enjoys medical tests, our goal is to make you as comfortable as possible. The team servicing the Fetal to Newborn Care Center is committed to supporting you through the entire process providing the resources you, your family, and your baby need. Our nurse navigator will help schedule required tests and answer any questions you may have to put your mind at ease.
Fetal Diagnostic Tests and Tools
Specialists for the Fetal to Newborn Care Center use a full spectrum of advanced diagnostic tools to assess and diagnose fetal conditions. Your baby’s condition, diagnosis and situation will guide our plan for the appropriate diagnostic tests. Possible tests may include:
- Amniocentesis. Amniocentesis is a common prenatal test in which a small sample of the amniotic fluid surrounding the fetus is removed and examined. It is usually performed in the second trimester after 15 weeks. This is used to diagnose chromosomal abnormalities such as Down’s syndrome and other genetic conditions.
- Chorionic villus sampling (CVS). CVS is a biopsy of the placenta (the structure that nourishes the fetus in the womb) that is typically performed at 10 to 13 weeks of pregnancy, but may also be performed at a later gestational age. This is used to diagnose chromosomal abnormalities such as Down’s syndrome and other genetic conditions.
- Diagnostic fetoscopy. Fetoscopy, which involves inserting a small tube into the womb through the mother’s abdomen, allows the doctor to safely see your baby in the womb. The baby’s appearance can provide important clues for genetic syndromes or to confirm that everything is fine with your baby.
- Fetal blood sampling and fetal skin/muscle biopsy. A sample of your baby’s blood, skin or muscle can be obtained through a small needle inserted through the mother’s abdomen under the guidance of ultrasound. This test can be used to determine if your baby has a disorder such anemia (low blood count) or muscular dystrophy (a disease that weakens the muscles and affects a person’s ability to move).
- Fetal echocardiogram. This high-resolution ultrasound test can diagnose complex heart abnormalities.
- Fetal ultrasound. In the first trimester (up to 14 weeks) ultrasound is able to make sure the pregnancy is in the proper location, confirm the presence of a living fetus, determine the age of the baby, obtain critical information regarding the placenta (afterbirth) in multiple gestations and screen for and diagnose many birth defects and high-risk conditions. In the second and third trimester ultrasound is used to diagnose genetic and birth defects and growth disturbances and to monitor the fetus’ well-being.
- Microarray analysis. This test involves analyzing your baby’s genetic material (DNA) obtained from a sample from either amniocentesis or CVS.
- Prenatal genetic counseling. Prenatal genetic counseling can help you learn whether your baby may be at increased risk for having a genetic disorder or birth defect. We can assist you in making decisions about testing options. We’ll ask you about you and your family’s medical history and perform tests to analyze you and your baby’s genetic material (DNA).
- Targeted sonograms. Our clinicians use these detailed images of your baby to analyze any abnormal structures without invasive procedures.
- Ultrafast fetal magnetic resonance imaging (MRI). This type of imaging helps clinicians evaluate any abnormal structures in your baby’s brain, spine, neck, chest, abdomen and urinary tract. We can’t ask your baby to lie still, so it’s important that this scan be fast. MRI provides important anatomic information that helps in planning delivery and, if needed, surgical procedures. We have one of the few fetal MRI specialists in Ohio.