Mike Ruma, MD, MPH, FACOG
Maternal–Fetal Medicine Specialist
Perinatal Associates of New Mexico
Albuquerque, NM
Maternal–Fetal Medicine Specialist
Perinatal Associates of New Mexico
Albuquerque, NM
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What is the rationale for deploying SNP-based NIPT in larger swaths of the population, especially in lower risk populations? Do recent guidelines — from the ACMG — suggest there is value using cell-free DNA tests in low risk patients?
Why is there is a discrepancy between cell-free DNA testing and ultrasound regarding the sex of the baby?
Since the technology for cell- free DNA/SNP-based testing can be complex, how do you work with the companies and what kind of technical support is required to optimize NIPT in this context?
How do you work with genetic counselors to optimize the value of cell-free DA test results for NIPT in your patients?
What is the unique value of cell- free DNA, SNP-based testing in the setting of vanishing twins? Why and how is the test employed? What is the limitation of the counting method in this case?
What are some of the practical, real world aspects of using SNP-based, cell-free DNA fractions for NIPT? Can you take us through this at the patient care interface?
Would you describe some clinical scenarios that illustrate types of patients for whom you would utilize NIPT, specifically the SNP-based technology, in your clinical practice?
What are some of the causes of false positive results and how does the SNP method aid the clinician to rule out maternal sex chromosome mosaicism/abnormalities?
What are the benefits of screening for sex chromosome aneuploidies (SCAs)?
What are the benefits of screening for sex chromosome aneuploidies (SCAs)?