Mike Ruma, MD, MPH, FACOG

Mike Ruma, MD, MPH, FACOG
 

Maternal–Fetal Medicine Specialist
Perinatal Associates of New Mexico
Albuquerque, NM


How does non-invasive prenatal screening (NIPT) using cell-free fetal DNA integrate into the current paradigms for screening and diagnostic testing for aneuploidy?

How does non-invasive prenatal screening (NIPT) using cell-free fetal DNA integrate into the current paradigms for screening and diagnostic testing for aneuploidy?

Will non-invasive, SNP-based prenatal screening (NIPT) be used by lower risk patient subgroups? What is the perspective of professional agencies on the use of cell-free fetal DNA testing?

Will non-invasive, SNP-based prenatal screening (NIPT) eventually be used by lower risk patient subgroups, and if so why? What is the perspective of professional agencies on the use of cell-free fetal DNA testing?

In what ways has a recent recommendation from the ACMG forced us to rethink, and expand upon, prenatal patient populations who are ideal candidates for cell-free fetal DNA testing?

In what ways has a recent practice recommendation from the American Council for Medical Genetics (ACMG) forced us to rethink, and expand upon, prenatal patient populations who are ideal candidates for cell-free fetal DNA testing?

How does NIPT differ from aneuploidy screening using maternal serum hormone levels? Combining maternal serum hormone levels/biochemistry and ultrasound markers?

How does NIPT differ from traditional aneuploidy screening using maternal serum hormone levels? Using a combination of maternal serum hormone levels/biochemistry and ultrasound markers?

How should the NT (nuchal translucency) scan and first trimester ultrasound be integrated with NIPT for aneuploidy screening? Why should screening be part of every prenatal screening program?

How should the NT (nuchal translucency) scan and first trimester ultrasound be integrated with NIPT for aneuploidy screening? Why should NIPT screening be part of virtually every prenatal screening program?

NIPT technology screens for sex chromosome abnormalities (SCA) such as Klinefelter syndrome and Turner syndrome. How accurate is NIPT for identifying sex chromosome abnormalities?

NIPT technology screens for sex chromosome abnormalities (SCA) such as Klinefelter syndrome and Turner syndrome. How accurate is NIPT for identifying sex chromosome abnormalities? And why is SNP testing preferred for these determinations?

What are the benefits of screening for sex chromosome aneuploidies (SCAs)?

What are the benefits of screening for sex chromosome aneuploidies (SCAs)?

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 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?

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?

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 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?

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?

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 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?

How do you work with genetic counselors to optimize the value of cell-free DA test results for NIPT in your patients?

How do you work with genetic counselors to optimize the value of cell-free DA test results for NIPT in your patients?

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?

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?

Why is there is a discrepancy between cell-free DNA testing and ultrasound regarding the sex of the baby?

Why is there is a discrepancy between cell-free DNA testing and ultrasound regarding the sex of the baby?

What is the rationale for deploying SNP-based NIPT in larger swaths of the population, especially in lower risk populations? Do recent ACMG guidelines suggest a value in low risk patients?

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?