Preimplementation Genetic Screening

Genetic Testing

Preconception

Preimplantation

Prenatal

New Born Sceening

Need for PGD Screening

Older women likely to produce abnormal Oocytes

Leads to chromosomally abnormal embryos

Increase in miscarriage

Lower pregnancy rate

Chromosomes commonly involved

Prenatal Diagnosis

Chorionic villus sampling (CVS) 10-14wks

Amniocentesis (15-16wks)

Fetal blood sampling (FBS)

Preimplantation Genetic Screening – Diagnosis

Implantation genetic diagnosis is an emerging technique that detects genetic and chromosomal abnormalities in IVF embryos before embryo transfer.

Early Embryos

IVF for selection of healthy embryo for transfer to the uterus

PGD and PGS recommended

In case of multiple first trimester miscarriages

When the candidate mother is over 36 years

Where there is a history of multiple IVF failures

When the couple demonstrate chromosomal abnormalities

When there is already one child with a genetic syndrome, which can be diagnosed in laboratory

When there is family history of cerebral damage or abnormal development.

Decreasing chance of chromosome abnormality in ongoing pregnancy