The New Genetics: Paradigm Shifts in Prenatal Diagnosis

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MASSIVELY PARALLEL SHOTGUN SEQUENCING • Simultaneously sequence millions of short segments from amplified DNA • Hundreds of sequences generated in a single run • Amplifies maternal and fetal DNA together • Increases number of samples run • Decreases cost • Different platforms used • Technique currently used by Sequenom and Verinata
NIPT WITH MPSS Unaffected Each diagrammatic fragment represents many thousands of sequenced fragments from chromosome 21. The quantitative overabundance of Trisomy 21 fragments in an affected pregnancy is significant and can be measured with high precision. Extra Chromosome Fragments = Affected Unaffected Fetus Fetus with Trisomy 21 Slide adapted from Sequenom
Page 1 and 2: THE NEW GENETICS: PARADIGM SHIFTS I
Page 3 and 4: Standard Screening and Testing Opti
Page 5: NIPT • Available clinically since
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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