Prenatal Genetics Services
Our services include:
- Prenatal Genetic Counseling: Prenatal genetic counseling can help you learn whether your baby may be at increased risk for having a genetic disorder or birth defect and assist you in making decision regarding available testing options.
- First Trimester Screening: First trimester screening combines ultrasound measurements of the nuchal translucency (fluid filled space at the back of the fetal neck), nasal bone, and a maternal blood test to analyze two chemicals: beta hCG and PAPP-A. This information, along with maternal age, is used to calculate the risk for Down syndrome and two other chromosomal abnormalities, trisomy 18 and trisomy 13.
- Amniocentesis: Amniocentesis is a diagnostic test used to detect chromosome conditions such as Down syndrome, trisomy 18, or trisomy 13. It is generally performed between 16 weeks-18 weeks from the first day of the last menstrual period. Amniocentesis can be used to test for other conditions in some circumstances. The procedure is performed using a thin needle which, under ultrasound guidance, is inserted through the abdominal skin into the amniotic sac. A small amount of fluid is withdrawn. Fetal cells present in the fluid are used to analyze the chromosomes. An AFP test for spina bifida will be performed from the amniotic fluid. Amniocentesis carries a small risk for miscarriage.
- CVS: Chorionic villus sampling is generally performed between 10-12 weeks from the first day of the last menstrual period. Like amniocentesis, CVS is used to detect chromosomal conditions in the pregnancy. CVS may be performed transabdominally, similar to amniocentesis, or transcervically. In both methods a small sample of tissue is obtained from the placenta and used to analysis the chromosomes. Like amniocentesis, CVS carries a small risk of miscarriage to the pregnancy.
- Ultrasound: An ultrasound may be performed at different stages of the pregnancy for different purposes. An ultrasound performed between 18-20 weeks is routinely recommended to evaluate the anatomy of the baby. This ultrasound can detect many, but not all, birth defects. It may also identify markers that would increase the suspicion for a specific chromosome abnormality, such as Down syndrome, in the pregnancy.