Desert Perinatal Associates’ team of specialists provide our patients with the most cutting-edge technology and testing available in prenatal diagnosis including timely genetic counseling. Our genetic counselors are healthcare specialists who deliver useful information about genetics and inherited diseases to patients and families. This information can be very complex, but they strive to present the information in a way that is easy for patients to understand. Our genetic counselors will gather information on a woman’s health, pregnancy history, and family history to better determine the chance for congenital health concerns or birth defects with pregnancy. Genetic counseling can also guide a discussion on testing options and management before or during a woman’s pregnancy. Collected information then allows the patient to decide which testing options are best suited to her needs. The goal of our genetic counselors is to provide helpful information so that each patient and/or family can make the best decision, based on their personal beliefs and values.
Early detection is possible with genetic counseling and testing
Desert Perinatal Associates offers our patients first-trimester screening that can be completed between your 10th and 14th week of pregnancy. This screening combines the results from a specialized ultrasound exam and blood tests to determine important information about the growth and development of your baby. If your pregnancy is identified as high risk through these screening techniques, additional testing may be discussed. Tests such as CVS or Amniocentesis will help to obtain further information about your pregnancy. Although these tests carry a small level of risk, the physicians at Desert Perinatal Associates have the highest level of experience and expertise in performing these procedures. Our compassionate and highly educated physicians execute each procedure with meticulous care and attention to every detail. Navigating these testing and screening options during your pregnancy can be very stressful, however, accurate information obtained through a consultation with one of our genetic counselors and a physician at Desert Perinatal Associates can give you the opportunity for the best possible outcome to your pregnancy.
Cell Free DNA
Cell-free fetal DNA is a powerful, non-invasive screen completed on a maternal blood sample to identify pregnancies with certain chromosome number problems (known as aneuploidies), including Down syndrome, Trisomy 18, Trisomy 13, and sex chromosome aneuploidies. The screen is designed for pregnancies at increased risk for these types of problems, such as women over the age of 35 at the time of delivery. The risk of having a baby with one of the aneuploidies increases with a woman’s age. Other risk factors include certain ultrasound findings, increased risk from maternal serum screening, and personal or family history of a chromosomal disease.
The blood screen is performed after 10 weeks, 0 days. The amount of cell-free fetal DNA in your blood is measured, and a report will be sent to your doctor at Desert Perinatal Associates. The results will be communicated to you and your referring doctor, as soon as possible. If the test identifies an abnormal number of chromosomes 21, 18, 13, X or Y, further genetic counseling will be given, and follow-up testing, such as amniocentesis may be recommended to confirm the result.
The accuracy, based on clinical trials, is 99% for Down syndrome, 97% – 99% for Trisomy 18, and 87 to 99% for Trisomy 13. Accuracy for sex chromosome aneuploidies can be as high as 99%. It is important to know that a high-risk result means there is a very high chance that your baby has that condition, but it is not 100% certain. Our doctors and genetic counselors will talk to you about follow-up tests that can tell you for sure. There is also a slim chance that no results will be obtained from your initial blood sample. In this case, a second sample is recommended.