The New Genetics: Paradigm Shifts in Prenatal Diagnosis

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OUTLINE • Overview of standard screening and testing options for aneuploidy • Non-Invasive Prenatal Testing for aneuploidy (NIPT) • Chromosomal Microarray Analysis in the prenatal setting
Standard Screening and Testing Options for Invasive Prenatal Screening Fetal Aneuploidy Diagnosis • Screening Options: • First Trimester Screening • Quadruple Marker Screen • Integrated, Sequential, or Contingency Screens • Anatomy Scan • Benefit(s) • Non-invasive = no risk • Identifies women from low risk pool who are at increased risk • Disadvantage(s) • Risk calculation only • False positive/negative • Limited to trisomy 18, 13, 21 • Timing, insurance coverage • Patient anxiety • Testing Options: • Chorionic Villus Sampling (CVS) • Amniocentesis • Benefit(s) • Diagnostic information on all aneuploidies • Additional testing available such as microarray, PCR • Disadvantage(s) • Invasive, risk of pregnancy loss (1/300- 1/500)
Page 1: THE NEW GENETICS: PARADIGM SHIFTS I
Page 5 and 6: NIPT • Available clinically since
Page 7 and 8: NIPT WITH MPSS Unaffected Each diag
Page 9 and 10: NIPT VALIDATION STUDIES • NIPT ha
Page 11 and 12: • 2049 pregnant women undergoing
Page 13 and 14: NIPT IN CLINICAL CARE Three separat
Page 15 and 16: INCORPORATION INTO CLINICAL CARE As
Page 17: NIPT Specifics Laboratory (Test nam
Page 26 and 27: ACOG/SMFM COMMITTEE OPINION NUMBER
Page 28: SUMMARY • So many options! • Ac
Page 32 and 33: CHROMOSOMAL MICROARRAY ANALYSIS •
Page 34 and 35: EXAMPLE- NORMAL RESULTS
Page 36 and 37: CHROMOSOMAL MICROARRAY ANALYSIS IN
Page 38 and 39: REFERENCES Lo et al (1997) Presenc
Page 40 and 41: REFERENCES • Benn et al (2011) Pr

The New Genetics: Paradigm Shifts in Prenatal Diagnosis

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