Genetic Couseling And Testing

What is genetic testing, and who should consider it?

Genetic testing usually consists of a simple blood test that helps you know whether you or your partner are carriers for diseases that may affect your child. We recommend baseline genetic screening for all pregnant women, but genetic counseling is especially beneficial if you have specific risk factors, such as:

• A history of infertility, multiple miscarriages, or stillbirth
• A previous pregnancy or child affected by a birth defect or genetic condition
• Conditions that run in your or your partner's family
• Maternal infections (such as cytomegalovirus/CMV) or exposures to certain medicines, drugs, chemicals, or X-rays

When does genetic screening take place during pregnancy?

Early detection is possible with our first-trimester screening, which can be completed between your 10th and 14th week of pregnancy. This screening combines a specialized ultrasound exam and blood tests to evaluate your baby's growth and development.

What is Cell-Free DNA testing?

Cell-free fetal DNA is a powerful, non-invasive screening completed using a simple maternal blood sample. It can be performed any time after 10 weeks of pregnancy. It identifies pregnancies with certain chromosome number problems (aneuploidies), including Down syndrome, Trisomy 18, Trisomy 13, and sex chromosome anomalies. This test is highly accurate—up to 99% for certain conditions—and is especially recommended for women over the age of 35 or those with a family history of chromosomal disease.

What other conditions can genetic testing identify?

Modern genetic testing can identify more than 400 disorders. Alongside chromosomal aneuploidies, some of the standard conditions we screen for include:

• Cystic fibrosis
• Sickle cell disease and other blood disorders
• Spinal muscular atrophy (SMA)
• Fragile X syndrome
• Tay-Sachs disease

What if I have abnormal or incomplete screening results from another practice?

Interpreting the results of genetic testing for various medical conditions can be confusing. If you have received abnormal, unclear, or incomplete results from another clinic, genetic counseling is a crucial next step. Our specialists will carefully review your data, explain exactly what the results mean, and help you decide if further diagnostic testing is necessary.

What specialized diagnostic tests are available if my pregnancy is at high risk?

If your initial genetic screening indicates a high risk for a genetic abnormality, Desert Perinatal Associates provides advanced, specialized diagnostic testing options in-office. This includes procedures such as amniocentesis and chorionic villous sampling (CVS). While these tests carry a small level of risk, our compassionate physicians have the highest level of experience and expertise in performing these procedures with meticulous care to give you definitive answers.

Take the Next Step for Your Growing Family

Navigating prenatal genetic screening and understanding complex test results can feel overwhelming, but you don't have to do it alone. The compassionate, expert team at Desert Perinatal Associates is here to provide the clarity, support, and specialized care you deserve. Contact our Las Vegas or Henderson offices today to schedule your genetic counseling consultation and achieve peace of mind for your high-risk pregnancy.