What current lab technologies -- including high throughput NGS -- have made expanded carrier screening possible? What do the panels report? How many disorders can be screened? And how has bioinformatics help better identify carrier risk?
Can you be more specific about which families -- based on historical features, ethnicity, and other factors -- should be offered carrier testing and when? Should it be offered to all families prior to conception?
What are the multiple benefits of carrier screening? Why should carrier testing be a routine part of the prenatal evaluation process? And what ethnic groups or families will benefit most?
What do we know about the cost-effectiveness and superiority of NIPT? Why is the SNP-based NIPT more cost-effective than serum screening?
What follow-up should be done when NIPT is discrepant with ultrasound for fetal sex?
What distinct advantages does SNP-based technology offer in resolving the cause of the abnormal result, including the presence or absence of maternal findings and vanishing twins?
What are some of the reasons for rare false positive NIPT results?
What tools are available to help providers explain NIPT to patients?
What can a provider expect with respect to timing of results, reporting methods and technical support for NIPT results?
What algorithm(s) can OBs and MFMs use to integrate NIPT into prenatal care? And how do you utilize NIPT in your practice? As a first-line test?
With respect to fetal fraction, why is cell-free DNA, SNP-based technology superior?
How do gestational age and maternal weight (BMI) affect fetal fraction? And what is the importance of separating out maternal fraction from fetal fraction by NIPT?