PGD & PGS

What is PGS?

PGS or aneuploidy screening is a reproductive technology used with an in vitro fertilisation (IVF) cycle. It is used to analyse the chromosomes of the embryos before their transfer into the womb. The purpose of PGS is to increase the chance of becoming pregnant and to lower the risk of miscarriage or risk of having a chromosomally abnormal child. The test is performed by extracting a single or few cells from the embryo produced through IVF. A PGS test reveals the number of chromosomes from each embryo. The correct number of chromosomes (46) is necessary for the embryo to become a normal child.

PGS enables the checking of all 23 sets of chromosomes including X and Y in each embryo so that only normal embryos are selected for transfer into the womb.

Example A : a pair of chromosome 21 is normal); three chromosomes of 21 is a Down’s Syndrome
Example B : abnormalities of chromosome 23 such as :-

  • XO (abnormal girl – Turner’s Syndrome),
  • XXY (abnormal boy – Klinefelter’s) compared to
  • XX (normal girl) or
  • XY (normal boy)

Indications for PGS

You may wish to consider PGS if:

  • You want to improve your IVF pregnancy rate – even women as young as 30 years old have a 70% chance of chromosome abnormalities in their embryos (refer Chart 2).
  • Especially if you are a woman over 35 as the incidence of aneuploidy (abnormal number of chromosomes) increases significantly with advancing maternal age. Transferring euploid embryos can have the same implantation rates as those for younger women (refer Chart 3).
  • You have experienced several spontaneous miscarriages of unknown cause
  • You have experienced several failed IVF cycle.
  • Your partner have severe male factor infertility
  • You have had a prior pregnancy with a chromosome abnormality.
  • You and/or your partner carry a balanced structural chromosome rearrangement eg. translocations or inversions.
  • You and/or your partner carry an X-linked disease.

The selection of chromosomally normal embryos in these couples greatly reduces the risk of miscarriage and increases reproductive success.

Documented High Pregnancy Rates

In AFC, by applying PGS (24sure), only embryos with the correct copy number of chromosomes are transferred in IVF, hence improving pregnancy rates.

Clinical Pregnancy Rate
(Stratified by Age Group)
July 2013 – December 2015

PGD_PGS_graph_03

*Low SY, Lee CSS, Lim YX (Alpha Fertility Centre). Euploid blastocysts show a trend of higher implantation and clinical pregnancy rates compared to untested blastocysts in FET cycles. Reproductive Biomedicine Online 2016;32(S1):S21 (Presented at 11th Alpha Biennial Congress, 5 – 8th May 2016, Copenhagen, Denmark)

What is PGD?

PGD refers specifically to when one or both genetic parents has a known genetic abnormality and testing is performed on an embryo to determine if it also carries a genetic abnormality. PGD is recommended when couples are at risk of transmitting a known genetic abnormality to their children. Only healthy and normal embryos are transferred into the womb, thus diminishing the risk of inheriting a genetic abnormality and late pregnancy termination.

Who should consider PGD?

  • You should consider PGD if:
  • You and/ or your partner are carriers of single gene defects that may affect the health of a future child. The most common single gene disorder in China & Malaysia is α-Thalassaemia & β-Thalassaemia. Other single gene disorders include Breast Ca I (BRCA I), Breast Ca II (BRCA II), Huntington’s disease, Cystic fibrosis, Fragile-X syndrome, etc.
  • You have a family history of X-linked disorders.
  • You and/ or your partner has a chromosome rearrangement (ie. translocations), which can cause implantation failure, recurrent pregnancy loss, or mental or physical problems in offspring.
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