PGD testing & Polydactyly

By Saloni & Rodrigo

What is Polydactyly?
- Genetic disorder characterised by a person having more
fingers or toes than normal

- Is formed by presence of dominant allele of a gene; offspring only needs one dominant
allele to inherit disorder

- Only occurs in 0.31-6.18 births in 1,000, depending on ethnic background (insert ethnic
statistics)

- Second most common hand congenital disorder

Symptoms/Issues
Symptoms
1. Unformed, small raised bump/ piece of skin that looks like
a finger or toe
2. Complete, working finger or toe
(in some cases, may only be 1 feature of more complex genetic
disorder/condition)
Rare forms of Preaxial Polydactyly have been found to
give rise to certain additional problems like:
● Cardiac abnormalities
● Blood disorders
● Craniofacial abnormalities
Abnormal appearance of nub may negatively affect
psychology of sufferers
Treatment & Prognosis

- Normally occurs as result of any irregularity in process of development of hands and feet
- Prenatally, disorder can be seen on ultrasound.

Treatment course:

- Formulated by physician after looking at internal structure of extra digit

- If extra digit is made up of tissue & skin, can be easily excised (minimum age 2 years)
- Complexity of surgery varies according to position of digit

Prognosis:

In most cases, patient regains full function & almost normal looking appearance of hands/feet
PREIMPLANTATION GENETIC DIAGNOSIS
Definition: Preimplantation genetic diagnosis (PGD) is a newly
developing field within branch of genetics, also called Embryonic
screening. Involves removing a cell from an IVF embryo for genetic
testing before transferring it to the uterus for implantation

Steps:

- During IVF, eggs are harvested & fertilised by sperm in lab to

form zygotes
- Zygotes continue developing in lab, for 3 days, until 8-cell stage
- Embryo biopsy is performed using microsurgical technique,
where embryo’s cell is extracted
- Cell undergoes genetic screening, where it is analysed
Healthy embryos that are free from genetic condition transferred to
uterus, unhealthy ones discarded
 Strengths of PGD
1. Women who have PGD are at a lower risk of having a
miscarriage
2. Extremely high success rate of identifying disorder/ condition
3. Couples may be unaware they are carriers of genetic
disease until child has birth defect
4. As a woman ages, risk of having child with defect increases
(decreased egg quality), PGD can avoid this
5. Significantly lowers chances of offspring inheriting genetic
disease→ ensures quality life
6. Can prevent genetic disorders from being transferred to future
generations
7. Doesn’t appear to negatively affect development of embryo &
subsequent pregnancy or after child is born
8. Improves chance of successful IVF pregnancy
Is it safe? Does it work?

- Thousands of procedures performed worldwide

since introduction in 1990; doesn’t appear to affect
development of embryo & subsequent pregnancy or
child once born.
- Recent study shows that whilst using a 5
chromosome PGD panel, 30% of potential
miscarriages would be prevented.
- 99% survival rate of embryo after biopsy and thaw
(according to study by STEET).
 Limitations

- Process not 100% accurate yet; prenatal testing strongly advised

- Moral conflicts with use of PGD testing & disposal of embryos
- May cause premature birth

Strict regulations on use of PGD:

1. PGD is banned due to ethical concerns in some countries (e.g.

Switzerland, Austria, Ireland)
2. Other countries may permit PGD, but limit use only to serious medical
conditions (e.g. UK)
- Expensive procedure ($12000-13000)
CONCLUSION

- PGD screening usually used only to screen one genetic disorder in

question, concerning parents genetic history, not multiple disorders.
- PGD screening for polydactyly not likely:
1. Strict regulations on which disorders can be screened in most
countries
2. Polydactyly is not a life threatening disorder nor does it risk health
of patient. Simple surgery required to excise extra digit, minimum
age of 2.
 Bibliography (MLA
format on next slide)

1. https://www.youtube.com/watch?v=Hi0x-Z_Uh78
2. http://www.seattlechildrens.org/medical-conditions/bone-joint-muscle-conditions/polydactyly/
3. http://www.childrenshospital.org/conditions-and-treatments/conditions/p/polydactyly-of-fingers/symptoms-and-causes
4. http://www.bbc.co.uk/schools/gcsebitesize/science/add_aqa/inheritance/genetic_variationrev4.shtml
5. https://healthresearchfunding.org/21-great-polydactyly-statistics/
6. http://genetics.thetech.org/ask/ask188
7. https://www.epainassist.com/hands/what-causes-polydactyly-and-how-is-it-treated
8. http://knowgenetics.org/common_misconceptions/
9. https://www.primehealthchannel.com/polydactyly.html
10. https://www.advancedfertility.com/preimplantation-genetic-diagnosis.htm
11. https://www.fertilityauthority.com/articles/pgd-and-frozen-embryo-transfer-new-standard-ivf
12. http://www.ivf1.com/pgd-miscarriage/
13. https://drjohnzhang.com/pros-cons-pgd/
14. http://fertility.treatmentabroad.com/tests-and-investigations/preimplantation-genetic-diagnosis-pgd
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