Our Services
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.
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:
Amniocentesis:
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.
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.