Prenatal Diagnosis

We offer a full spectrum of screening and diagnostic tests to evaluate the health of the fetus, placenta, umbilical cord and uterine environment and predict the likelihood of genetic problems.

Potential risks, benefits and possible fetal conditions are fully discussed prior to testing.

Screening Tests

Screening tests are less invasive, but only predict the likelihood of a problem.

• A nuchal translucency (NT) screening is typically included in the 11 to 14 week ultrasound. It can estimate the baby's risk for Down Syndrome.
• A blood test called the first trimester screen looks for biochemical markers of Down Syndrome, so results might be "a 1 in 600 chance of Down Syndrome."
• Maternal serum AFP (which measures a protein called alpha-fetoprotein in the mother's blood) screens for neural tube defects such as spina bifida.
• Ultrasound is used to estimate the age or size of a baby, to look for birth defects or observe a baby's activity and environment to evaluate well-being. Evaluations of the placenta, uterus and cervix also contribute information about possible risks to the pregnancy.

Diagnostic Tests

Diagnostic tests actually confirm a problem suspected after screening, but are more invasive.

• Chorionic villus sampling extracts a few cells from the placenta to be analyzed for genetic conditions. 
• Amniocentesis takes a sample of amniotic fluid to be analyzed for chromosome abnormalities like Down Syndrome or spina bifida or other genetic diseases.
• Percutaneous umbilical cord blood sampling withdraws a blood sample from the umbilical cord while the fetus is still in the uterus for rapid chromosome analysis oof the risk for certain blood disorders.

Our genetic counselors can help you think through your testing options.

If you would like to schedule an appointment, please call us at 425.899.2200.