1st and 2nd Trimester Screening for Down Syndrome
1st and 2nd Trimester Screening for Down Syndrome
Genetic Screening for Down Syndrome and Trisomy 18
Peninsula Diagnostic Imaging was the first facility on the San Francisco Peninsula to provide Nuchal Translucency screening (NT ultrasound) with maternal biochemistries for first trimester screening for Down syndrome. We are accredited by the Fetal Medicine Foundation. Full Integrated screening through the California Prenatal Screening Program (pdf) is now available and is among the most sensitive screening tests for Down syndrome, trisomy 18, and open neural tube defects when combined with the second trimester maternal serum (Quad Marker Screening or Afp4).
Full Integrated Screening
Full Integrated Screening is the State of California’s screening program, which involves a nuchal translucency ultrasound and two maternal blood tests. This screen can provide you with a preliminary early report in the first trimester and the final result in the second trimester about your risk of Down syndrome, trisomy 18, and open neural tube defects. The sensitivity of Full Integrated Screening for the detection of Down syndrome is 90%.
Genetic counseling services are available for all patients to discuss their results and to obtain information about other testing including ethnicity specific carrier screening, CVS and amniocentesis. Genetic counseling is recommended for all women over 35.
We offer referrals for CVS and amniocentesis.
Frequently Asked Questions (FAQ)
- What is a screening test?
- What is non-invasive prenatal screening?
- What is Down syndrome?
- What is trisomy 18?
- What are open neural tube defects?
- Why should I have a nuchal translucency (NT) ultrasound and Full Integrated Screening if I am 35?
- What is nuchal translucency(NT)?
- What does it mean if the nuchal translucency is abnormal?
- What is Full Integrated Screening?
- Why should I have Full Integrated Screening?
- When should I consider scheduling Full Integrated screening?
- How soon will I get my results for Full Integrated Screening?
- What other information does the Quad Marker Screening or Afp4 (second blood test) give besides Down syndrome and trisomy 18 risk?
- How can the test for spina bifida and other open neural tube defects be made more sensitive?
- What is genetic counseling?