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CONCLUSI ONS
NGS-BASED DIAGNOSTICS IN INFERTILITY
▶ NGS-based genetic testing: improvement compared to GWAS (specific interrogation of SNPs)
▶ Scope: gene panel – m endeliom e – genom e
▶ Variants:
▶ Many variants:
• At least 1 variant in associated genes: in 47,5% of POI patients • X-linked, homozygous, compound heterozygous
• Mosaïc?
▶ Lots of uncertainty (VUS)
• Lack of familial data
• Lack of functional studies
▶ Additional data help to eliminate the uncertainty ▶ Trio exome analysis
▶ Functional studies
 Potential diagnostic yield:
5% extra - 4/82 POI patients with genetic diagnosis
10% extra - 4/39 POI patients with genetic variant in genes of interest
The ABC of next generation sequencing-based genetic diagnostics in fertility
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ACKNOWLEDGEMENTS
COLLABORATI ON
Centrum voor Reproductieve Geneeskunde UZ Brussel (VUB)
Prof Dr W Verpoest
Prof Dr M De Vos
Prof Dr Herman Tournaye
Centrum voor Medische Genetica UZ Brussel (VUB)
Dr Sc A Gheldof
M Sc D Daneels
Clinique de fertilité
Prof Dr A Delbaere
Prof Dr F Devreker Dr B Alvaro‐Mercadal Dr A Sassi Fertility preservation unit Prof I Demeestere
Centre Genétique Humaine Hôpital Erasme ULB Prof Dr J Desir
Prof Dr Sc K Stouffs
Prof Dr M Bonduelle
BRIGHTcore (Brussels Interuniversity Genomics high throughput core) VUB‐ULB
The ABC of next generation sequencing-based genetic diagnostics in fertility
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