Supporting Expectant Parents: Comprehensive Genetic Counseling for Pregnant Patients

Hello everyone,

At MKGenetix, we are dedicated to providing personalized genetic counseling services to expectant parents. Navigating the journey of pregnancy can be overwhelming, especially when faced with genetic questions and concerns. In this blog post, we will explore the services we offer to pregnant patients, focusing on carrier screening, non-invasive prenatal testing (NIPT), and family history evaluations. While we do not have access to maternal-fetal medicine specialists or perform diagnostic testing such as amniocentesis, we can offer valuable insights and support through genetic bloodwork and expert counseling.

The Importance of Genetic Counseling During Pregnancy

Genetic counseling during pregnancy plays a crucial role in identifying potential genetic conditions and providing expectant parents with the information needed to make informed decisions about their pregnancy and future family planning. Here’s how MKGenetix can assist you:

Carrier Screening

Carrier screening is a vital step in understanding the risk of passing on genetic conditions to your baby. It involves testing parents for specific genetic mutations that could lead to inherited conditions.

• What is Carrier Screening? Carrier screening identifies if parents are carriers of genetic mutations associated with inherited disorders, such as cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies.
• Why is it Important? Knowing your carrier status can help you understand the risk of your baby inheriting certain genetic conditions. If both parents are carriers for the same condition, there is a 25% chance that their child will be affected by the condition.
• How MKGenetix Can Help: We provide comprehensive carrier screening options, explaining the process, interpreting results, and discussing potential next steps based on the findings.

Non-Invasive Prenatal Testing (NIPT)

NIPT or NIPS (non-invasive prenatal screening) or sometimes called “the gender test” is actually highly accurate screening test that analyzes placental DNA circulating in the mother’s blood to provide a likelihood for common chromosomal abnormalities. It is not perfect! However, it is our most accurate screening tool available.

I think it is important to remember that screening is intended to identify individuals that may benefit from additional testing, screening, counseling because of a higher than expected chance for something with the fetus compared to the standard population.

• What is NIPT? NIPT screens for conditions such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13), among others.
• Who is NIPT right for? NIPT offers a non-invasive way to provide a customized likelihood that the fetus has certain chromosome conditions such as Down syndrome. However, it is not perfect so it is not a good fit for everyone. Some families simply don’t want the information and that is not a problem at all!
• How MKGenetix Can Help: We offer guidance on NIPT, help you decide if it is the right testing for you, understand the results if it has already been done, and discuss the implications for your pregnancy. If NIPT results are abnormal, we provide support and information on further steps and options.

Evaluating Family History

Understanding your family history can provide valuable insights into potential genetic risks for your baby.

• Why is Family History Important? A detailed family history can reveal patterns of inherited conditions and inform decisions about further testing and monitoring.
• How MKGenetix Can Help: We conduct thorough evaluations of your family history to identify any genetic conditions that may affect your pregnancy. Our counselors will help you understand the significance of these findings and discuss appropriate screening and testing options.

Challenges in Accessing Genetic Services

We understand that expectant parents may face challenges in accessing genetic services, including:

• Limited Access to Specialists: Not having access to maternal-fetal medicine specialists can be a barrier to receiving comprehensive care.
• Diagnostic Testing Limitations: While we cannot perform diagnostic tests like amniocentesis, we provide expert guidance on the available non-invasive options.
• Understanding Results: Interpreting genetic test results can be complex and overwhelming.

How MKGenetix Can Support You

Despite these challenges, MKGenetix is committed to providing exceptional support to pregnant patients:

• Bloodwork and Testing: We can order genetic bloodwork, such as carrier screening and NIPT, ensuring you have access to essential genetic information during your pregnancy.
• Personalized Consultations: Our genetic counselors offer personalized consultations to explain test results, discuss their implications, and provide guidance on the next steps.
• Connecting to Resources: We connect you with relevant resources, support groups, and information to help you navigate your pregnancy with confidence.

Conclusion

At MKGenetix, we are dedicated to supporting expectant parents through personalized genetic counseling and testing services. Whether you need carrier screening, NIPT, or a detailed evaluation of your family history, our goal is to empower you with the knowledge and support needed to make informed decisions about your pregnancy and your baby’s health.

We look forward to being a part of your journey and providing the expert care and compassion you deserve every step of the way.

Warm regards,

Megan Trinkle-Knotts, MS, CGC
Certified Genetic Counselor
Founder, MKGenetix

• American College of Obstetricians and Gynecologists. (2017). Carrier screening in the age of genomic medicine. ACOG Committee Opinion No. 690. Obstetrics & Gynecology, 129(3), e35-e40.
• Beauchamp, K. A., Johansen Taber, K. A., Muzzey, D., Friez, M. J., & Goldberg, J. D. (2019). Clinical impact and cost-effectiveness of expanded carrier screening. Genetics in Medicine, 21(9), 1948-1957.
• Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., Das, A. F., … & CARE Study Group. (2014). DNA sequencing versus standard prenatal aneuploidy screening. New England Journal of Medicine, 370(9), 799-808.
• Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., … & Wapner, R. J. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. New England Journal of Medicine, 372(17), 1589-1597.
• Bennett, R. L., French, K. S., Resta, R. G., & Doyle, D. L. (2008). Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 17(5), 424-433.
• McCarthy Veach, P., LeRoy, B. S., & Bartels, D. M. (2003). Facilitating family dialogue about genetic conditions. Journal of Genetic Counseling, 12(4), 309-329.
• Burton, H., Alberg, C., & Stewart, A. (2010). Barriers to the delivery of genetic services by primary care providers: A systematic review of the literature. Genetics in Medicine, 12(11), 704-710.
• Komenaka, I. K., Nodora, J. N., Madlensky, L., Salyer, P., Molina, M. A., Martinez, M. E., & Bondy, M. L. (2016). Participation of low-income women in genetic cancer risk assessment and BRCA 1/2 testing: the experience of a safety-net institution. Journal of Community Genetics, 7(3), 177-183.