Protocol for Perinatal Genetic Counseling
- During genetic counseling, the health history of both parents and their families are reviewed. The evaluation focuses on hereditary defects or disorders, substance abuse, miscarriages or other serious health conditions. In addition, the age of the parents as well as their ethnic backgrounds are evaluated to determine if genetic testing is recommended.
- A high-resolution ultrasound is used for diagnostic screening to assess for due date, sex, number of fetuses and birth defects. Different types of ultrasounds are used for specific purposes in high-risk pregnancies. They include 2D, 3D and 4D imaging, transvaginal ultrasound, color doppler and fetal echocardiography.
- Genetic screening is performed to identify genetic risks and allow parents to determine if they want to continue the pregnancy. Tests conducted include those to identify genes for hemophilia A, cystic fibrosis, Down syndrome, fragile X syndrome, chromosome mutations and Tay-Sachs disease.
- An amniocentesis, in which a needle is inserted into the patient's abdomen and amniotic fluid is taken, is used to screen for chromosomal disorders, usually between weeks 16 and 20. If results are positive, consultation with a genetic counselor may be scheduled.
