12. • NIPT(Non invasive prenatal testing)
•asinglematernal blood draw
••PGT(Preimplantation genetic Testing)
•~70%-80% of total testing
•PGD
•Screensfor inherited disorders
such asCystic Fibrosis
•20-30% of total testing
13. NIPT measures circulating cell-free DNA (cffDNA)
from placenta present in maternal blood
Comprises ~10% of DNA in maternal blood
Increases with gestational age
As early as 9 weeks gestation
(NIPT)
15. Increased maternal age
Increased risk on Combination or triple
test
Anxiety for invasive procedure (AC /
CVS)
Indications
16. PGTPGT
Avoidance of miscarriageAvoidance of miscarriage ??
Avoidance of aneuploidy at birthAvoidance of aneuploidy at birth YESYES
Improved live birth rate....Improved live birth rate.... NONO (?)(?)
Avoidance of genetic diseaseAvoidance of genetic disease YESYES
17. Miscarriagerateafter PGT do not increasewith
age
*SART, ** Harton et al. (2013) Fertil Steril
PGS **
No PGS *
Maternal age
18.
19. Does PGT help increase pregnancy rate in
IVF?
21 April 20173rt GANNA Annual Meeting
19
Moniek Twisk et al., Hum
Reprod; 20013
20. So How to use it ?
Doctors successfully screened embryos for
gene mutation linked to early onset
Alzheimer's disease JAMA, 2002
22. Families with Cancer
Familial Adenomatous Polyposis
(FAP)
Multiple Endocrine Neoplasia 2
Breast cancer (BRCA1 and BRCA2
genes )
Hereditary non-polyposis colorectal
cancer
All these cancers are autosomal
dominant traits
23. Reality : Two IVF-PGS children without BRCA1 mutation
26. Using FISH for PGS of
X-linked disorders
Three colour FISH
X ( green)
Y (red)
Chromosome 18 to
control for normal
diploidy
Male
Female
27.
28. 10 oocytes
8 fertilized
5 survive biopsy
6 cleave to 8-16 cell
1 no diagnosis
1 aneuploid
2 males
1 embryo for replacement
Practical realities
Attrition of embryos
Practical realities
Attrition of embryos
Example for a sex linked disorder
e.g. Haemophilia / Duchenne MD
29. IVF associated risks
- high cost
- risk of not getting pregnant
- increased risk of a multiple birth
- risk of OHSS (Difficult to balance
adequate egg numbers and the risk of
OHSS ).
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Comparison 3 Good prognosis patients, Outcome 7 Miscarriage rate per woman randomised.