Welcome to the second edition of our CU MFM e-newsletter! This issue highlights our robust Prenatal Genetic Counseling services, crucial for navigating the complexities of modern genetic testing and its implications for pregnancy. We are also excited to share leading-edge research and clinical trials aimed at improving fetal outcomes.
CU Maternal-Fetal Medicine Summer 2024 Newsletter
Prenatal Genetic Counseling Program
The prenatal genetic counseling program at CU Maternal-Fetal Medicine offers comprehensive support to help providers and patients understand genetic testing results and their implications. Our certified genetic counselors, alongside Dr. Manesha (Nash) Putra, who is MFM/Genetics trained, specialize in assisting patients with personal or family histories of genetic disorders or abnormal prenatal screenings. Consultation services include meeting patients for:
- Personal or family history of:
- Genetic disease
- Birth defects
- Infertility
- Recurrent pregnancy loss
- Abnormal cell-free DNA/NIPT genetic screening
- Positive carrier screening such as Fragile X or Cystic Fibrosis
- Reviewing diagnostic test results from CVS, amnio, or fetal tissue
- Fetal congenital anomalies/abnormal ultrasound findings
- Suspected maternal genetic syndromes
- Preconception counseling
- Genetic testing in a normal pregnancy
To refer a patient or for more information, call 303-315-6100 or fax 303-468-3481. In UCH Epic, referrals can be submitted via Ambulatory Referral to OBGYN/MFM: (REF86) or Ambulatory Referral to Genetic Counseling: (REF135), then select a SOM location in referral entry to ensure referrals drop into appropriate scheduling work queues.
Click on bios below to learn more about Dr. Putra and our Certified Genetic Counselors.
MD
Assistant Professor
MS, CGC
Genetic Counselor
MS, CGC
Genetic Counselor
Prenatal Diagnosis and Therapy in Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that typically results in respiratory and pancreatic dysfunction and may impact other system organs. It is caused by mutations in CF transmembrane conductance regulator (CFTR) and is inherited in an autosomal recessive manner. Because of this, parents who are known to be a carrier couple have a 1:4 (25%) chance of having a pregnancy affected by CF.
Though challenges remain, progress has been made in prenatal management of fetuses with cystic fibrosis. There is emerging evidence for the use of a new medication class, CFTR modulators (i.e., Trikafta), to potentially treat CF prenatally. Gene therapy is another modality that is currently being developed with the hope of curing CF. A group led by one of our CU Maternal-Fetal Medicine physicians, Michael Zaretsky, MD, is currently performing research to develop a prenatal gene therapy for CF. Fetuses confirmed to have CF can be enrolled in this study and receive CFTR modulators which may improve postnatal outcomes.
Carriers of CF do not have any symptoms, rendering it difficult to identify carrier individuals based on reported personal medical history or family history alone. The American College of Obstetricians and Gynecologists (ACOG) recommends carrier screening for CF, spinal muscular atrophy and hemoglobinopathies at a minimum for all people considering pregnancy or who are currently pregnant. Referral to Maternal-Fetal Medicine and genetic counseling should be considered for all carrier couples.
During a prenatal consultation, we will provide in-depth counseling related to the potential diagnosis and the associated reproductive risk. If desired, diagnostic testing options such as chorionic villus sampling or amniocentesis can be safely performed at all our clinical sites. Ultimately, our team of experts will partner with families to provide personalized care during the pre- and post-natal period for each patient.
For more information:
Pregnancies at Risk for Severe Hemolytic Disease of the Fetus and Newborn: A Phase 3 Study of Nipocalimab
The Colorado Fetal Care Center will be a participating center for an international Phase 3, placebo-controlled, double-blind study of a drug called Nipocalimab for hemolytic disease of the fetus and newborn (HDFN) sponsored by Johnson & Johnson. Nipocalimab is a monoclonal antibody that lowers the maternal antibody levels and blocks the placental transfer of pathologic IgG to reduce the severity of fetal anemia.
For pregnant patients to be included in this study, they need to be at risk for severe HDFN and have confirmed pregnancy carrying an antigen-positive fetus. They need to have had a prior affected pregnancy requiring at least one intrauterine transfusion (IUT) or fetal loss/neonatal death due to HDFN. Patients must be enrolled prior to 15 weeks of gestation. Patients will be randomized with a 2:1 chance of receiving Nipocalimab. All study visits and travel to our center for weekly infusions and delivery will be paid for by the study sponsor, Johnson & Johnson.
To learn more or to see if your patient is eligible for inclusion of this trial please contact Mike Zaretsky, MD at 720-777-4463.
News You Can Use
CU Maternal-Fetal Medicine outpatient services at Central Park Perinatal Center and UCHealth Lone Tree Maternal-Fetal Medicine Center end as of July 1, 2024.
Please direct referrals previously placed at these locations to one of our School of Medicine sites (Littleton Perinatal Center, Parker Perinatal Center, or John C. Hobbins Perinatal Center) or UCHealth MFM Clinic at Anschutz. Schedulers at Lone Tree and Central Park have been notified to re-direct these referrals.
Register for our 21st Annual High-Risk Fetal Imaging & Perinatal Conference!
Join us for the conference on Friday, September 27th and the Fetal Echocardiography Workshop on Saturday, September 28th. Both in-person and virtual registration options are available for Friday's conference session. Hotel blocks at The Benson Hotel and Faculty Club, conveniently located near the Anschutz campus, are available at a discounted rate. For more information and to register please click on the 'Register Now' button below.
Virtual CME Series
Join us for our next virtual CME series presented by Dr. Nash Putra on Wednesday, July 17th as he discusses “Advances in Fetal Therapy: Renewed Importance of Carrier Screening”. For more information and to register for CME credit please click on the 'Register Now' button below.
We Value Your Feedback!
We invite you to share your thoughts, experiences and suggestions related to our content and services. Do you have any questions or topics you'd like us to cover in future editions or educational events? Are there any success stories or challenges in Maternal-Fetal Medicine that you'd like to see featured? Have you experienced issues, concerns or discrepancies with our services? Please email Kelly Clark, Kelly.Clark@ChildrensColorado.org, or fill out our online form. Your input helps us tailor our content and educational offerings to better serve your needs and interests. Join the conversation and be a part of shaping our community!