Diagnostic testing is typically recommended when there is an increased chance for a genetic or chromosomal condition based on:
- Results from first- or second-trimester screening
- Abnormal ultrasound findings
- Family history of genetic conditions
- Maternal age
- Other medical or pregnancy-related risk factors
At Specialty Obstetrics of San Diego, all diagnostic procedures are performed by our board-certified Maternal-Fetal Medicine specialists in a supportive outpatient environment.
Diagnostic Procedures
Amniocentesis
Amniocentesis is typically performed between 15 and 22 weeks of pregnancy. Using ultrasound guidance, a thin needle is inserted through the abdomen to remove a small amount of amniotic fluid, which contains fetal cells for genetic analysis.
What Amniocentesis Can Diagnose
- Chromosomal conditions (e.g., Down syndrome, trisomy 18)
- Genetic disorders (based on specific testing)
- Certain fetal infections
- Neural tube defects (with AFP analysis, when indicated)
What to Expect
- Performed in-office by MFM specialists
- Procedure time: a few minutes
- Recommended to avoid heavy lifting, strenuous activity, and sexual intercourse for 24–48 hours afterward
- Preliminary results (rapid testing): within a few business days
- Final results: up to two weeks
Chorionic Villus Sampling (CVS)
CVS is performed between 10 and 13 6/7 weeks of pregnancy. It involves collecting a small sample of placental tissue (chorionic villi), which contains the same genetic material as the baby.
Key Features
- Allows earlier diagnosis than amniocentesis
- Performed transabdominally in our practice
- Guided continuously by ultrasound
- Recommended when early genetic confirmation is desired or when screening results indicate increased risk
What to Expect
- Quick, outpatient procedure
- Mild cramping may occur
- Avoid strenuous activity and sexual intercourse for 24–48 hours
- Preliminary results often within a few business days
- Complete results typically within two weeks
State-Approved Prenatal Diagnosis Center (PDC)
Specialty Obstetrics of San Diego is a California State–Approved Prenatal Diagnosis Center providing follow-up care for patients with screen-positive results from the state Prenatal Screening (PNS) Program.
Patients may be referred to our center for the following services:
Genetic Counseling
Explanation of screening results, discussion of genetic risks, and review of available testing options.
Diagnostic Ultrasound
Performed by experienced sonographers and reviewed by Maternal-Fetal Medicine specialists.
Optional Follow-Up Testing
- CVS
- Amniocentesis
- Additional genetic evaluations as indicated
Our team follows state guidelines to ensure timely, accurate, and supportive care for patients navigating abnormal screening results.
