PGD - Cell biopsy of the embryo to determine genetic status of the embryo. Child born with a genetic disease is a problem for the child itself, parents & society. One could diagnose these defects by CVB at 9 weeks or amniocentesis at 16-18 weeks & terminate pregnancy if abnormal. With this one could not detect abnormalities in fetuses of patients with repeated 1st trimester early abortions . PGD enables us to diagnose genetic disease in human embryo before implantation, thus giving parents a chance to start pregnancy free of inherited disorder

PGD can be done either in Unfertilized egg by removal of 1st polar body or fertilized multi-cellular embryo by removal of 1 or more cells

Indications:

  1. Autosomal recessive disorders
    • Cystic fibrosis
    • Tay Sachs disease
    • Sickle cell anaemia
    • Thalassaemia
  2. Autosomal dominant disorders
    • Marfans syndrome
    • Polyposis coli
    • Charcot Marie tooth
  3. X linked recessive disorders
    • Haemophilia
    • Lesch Nyhan Syndrome
    • Duchenne Muscular dystrophy
  4. Others
    • Aneuploidy or genetic screening in male infertility following ICSI
    • Aneuploidy sreening in women with advanced maternal age
    • Aneuploidy in translocation carriers
    • Single gene defect

Performed by:

1.PCR – Polymerase chain reaction for diagnosing single gene defects and embryo sex determination. It is also used for determining sperm DNA fragmentation which predicts the success of any form of treatment and also helps in selecting the modality of treatment offered.

2.FISH – Fluorescent in situ hybridization for chromosome related aneuploidy and x linked recessive disorders

D) Assisted Hatching – is useful for those viable embryos unable to implant as a result of their inability to break free from surrounding zona pellucida at blastocyst stage.

Inappropriate ovarian environment due to advanced maternal age or other factors that may compromise the follicular environment may in certain cases render the zona pellucida thicker & tougher. But various studies have shown, assisted hatching not to be an effective treatment.

Procedure: Day 3 of OR or D ay 5/6 before ET

Hole made in zona pellucida prior to transfer for embryo to hatch free from zona pellucida

Methods of Hatching

  1. Mechanical
  2. Chemical – Acid tyrode solution
  3. Laser

Assisted hatching does not improve pregnancy rates and therefore not recommended, except in
women >38 yrs, with elevated D3 FSH and repeated IVF failures.

E) Removal of 1 PN from 3 PN embryos
Indication:

Abnormal fertilization with presence of 3 PN due to polyspermy

  • 1 PN removed and embryo cultured further
  • Experimental stages
  • Trials on
  • Results not published

 

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Dr. Patil’s Fertility and Endoscopy Clinic

Center for Assisted Reproductive Technology, Endoscopic Surgery and Andrology

No 1, Uma Admirality, First Floor, Bannerghatta Road, Bangalore - 560029
Ph: 080 - 41201357, 41462419 Mobile: 9945221622
E-Mail: drpatilsclinic@gmail.com

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