How are Fetal Conditions Diagnosed?
DiagnosisMany birth defects can be diagnosed during pregnancy through screening and diagnostic tests. In other cases, a doctor may diagnose a birth defect after a child is born or later in life when symptoms manifest.
Screening during pregnancy
- Maternal blood screen is a simple blood test that can measure the risk for infections and diabetes
- Ultrasound is an imaging test that assesses the fetus’s body to determine the risk for some conditions, such as heart defects or chromosomal disorders (if there were to be fluid behind the fetus’ neck). In the second trimester, an ultrasound can be used to check the size of the fetus.
- Maternal serum screen is a blood test performed during the second trimester. This blood test provides information that can reveal the risk of having a baby with certain disorders, including Down syndrome and neural tube defects (NTDs).
- Non-invasive prenatal screening (NIPS) is a blood test taken during the 10th week of pregnancy to help determine the presence of a chromosome disorder such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13).
Diagnostic tests
If a doctor finds something abnormal or suspicious during a screening, they will order additional tests to confirm a diagnosis for congenital disorders. These tests could include:
- Fetal echocardiogram is a detailed imaging test that shows the fetus’s heart
- Fetal MRI is an imaging test that can show the fetal brain and nervous system
- Amniocentesis is usually performed between 15 and 18 weeks of pregnancy and is offered to women who received an abnormal screening. A doctor collects a sample of amniotic fluid (which surrounds the baby in the womb) and tests it for chromosomal and genetic disorders.
- Chorionic villus sampling (CVS) is usually completed during weeks 10-12 of pregnancy and is offered to women with abnormal screenings. A doctor takes a small sample of the placenta and tests it for chromosomal or genetic disorders.
NewYork-Presbyterian’s Neonatal Intensive Care Units (NICUs) can care for critical needs babies with an array of fetal anomalies diagnosed before birth. Sometimes, a doctor may not be able to diagnose a birth defect until a baby is born.
If you notice any symptoms in your child after birth, see a healthcare provider.
How are Birth Defects Treated?
TreatmentTreatment for birth defects varies widely depending on the type and severity of the disorder. Treatment usually focuses on managing symptoms and repairing structural defects.
Treatment for congenital disorders after birth may include one or more of the following:
- Surgery
- Medication
- Physical therapy
- Supportive devices like a brace or wheelchair
Trust NewYork-Presbyterian for Birth Defect Treatment
The multidisciplinary neonatal team at NewYork-Presbyterian is one of the top teams in the country for diagnosing and treating birth defects. Our physicians have access to state-of-art equipment and the latest guidelines on screenings and diagnostic tests during pregnancy and can make a thorough recommendations on treatment for fetal disorders after birth.