>>>Reproductive Genetic Diagnosis & Screening
Reproductive Genetic Diagnosis & Screening2018-11-20T15:52:53+00:00

 

(1) Pre-implantation Genetic Diagnosis (PGD)

Test description: PGD is a diagnostic test performed on embryos to identify single gene disorder/ chromosomal abnormalities before implantation. PGD is used to test for a specific monogenic disorder and avoid the passing of the genetic disease to the offspring. The main advantage is that it avoids selective pregnancy termination as this method makes it likely that the embryo transferred will be free of the disease under consideration.

Clinical information: You are eligible for PGD if:

  • You have family history of a genetic disease and
  • You and/or your partner is a carrier of a genetic disorder
  • You or your partner is a carrier of balanced chromosomal translocation

Turn Around Time (TAT)

  • Fresh cycle: 1-2 days
  • Frozen cycle: max. 2 weeks
 
PGD-2
Fig. Sequencing result of trophectoderm biopsy with c.500G>A (heterozygous, arrow indicated). Whole genome amplified DNA was subjected to PCR amplification for targeted analysis of exon 5 of the PHEX (phosphate regulating endopeptidase homolog, X-linked) gene.


Specimen submission
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(2) Pre-implantation Genetic Screening (PGS)

Test description: PGS is a screening test performed on embryos to identify chromosomal abnormalities. PGS is performed using array comparative genomic hybridization (aCGH) technology, all of the chromosomes in a single cell will be checked to determine any gain or loss of each arm of all chromosomes. It is suggested that the prevalence of aneuploidy rose steadily with age (Fertility and Sterility; 2014: vol 101:656-663), which will result in implantation failure, recurrent miscarriage and abnormal pregnancy.

Clinical information: You are eligible for PGS if you have:

  • Advanced reproductive age (≥38 years old)
  • Recurrent miscarriage
  • Previous repeated abnormal pregnancies
  • Repeated failure in IVF cycles
  • Severe male factor infertility

Turn Around Time (TAT)

  • Fresh cycle: 1-2 days
  • Frozen cycle: max. 2 weeks

Specimen submission:

 
PGS-1
 

Fig. ArrayCGH result of blastomere biopsy consistent with trisomy 11 (aneuploidy, arrow indicated).