PRE-IMPLANTATION GENETIC TESTING (BABI) DURING IN VITRO FERTILIZATIONYosok Pun

MICROSCOPE STAGE WITH MICROMANIPULATORS (IVF)

IVF TECHNIQUE

Monitor and stimulate the development of healthy egg(s) in the ovaries.

Collect the eggs. Secure the sperm. Combine the eggs and sperm together in the

laboratory and provide the appropriate environment for fertilization and early embryo growth.

Transfer embryos into the uterus. http://

www.youtube.com/watch?v=GeigYib39Rs

BABI

Acronym for Blastomere Analysis Before Implantation.

Currently used as a diagnostic testing of four diseases.

Cystic FibrosisDown SyndromeTay Sachs Lesch-Nyhan Syndrome

A CELL OR BLASTOMERE BEING REMOVED FROM A DAY 3 EMBRYO

BLASTOMERE ANALYSIS

DNA AMPLICATION

CYSTIC FIBROSIS

Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.

Symptoms include shortness of breath, chronic cough, and wheezing (a whistling sound made with breathing)

Current diagnostic tests: blood test to ID defective gene. sweat chloride testing BABI No cure found

DOWN SYNDROME

Caused by having an extra third copy of chromosome 21, usually by a random error in the mother's egg

Causes mental retardation and affects physical features.

DOWN SYNDROME KARYOTYPE

LESCH-NYHAN SYNDROME (LNS)

Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (HGPRT), produced by mutations in the HPRT gene located on (the) X chromosome . LNS affects about one in 380,000 live births

Overproduction of uric acid Nervous system impairment Self Injuring Behavior

X LINK RECESSIVE

TAY–SACHS DISEASE

Tay–Sachs disease is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that commences around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain’s nerve cells, eventually leading to the premature death of the cells

No cure found

CURRENT RULES/LAWS

Regulated in UK - Human Fertilization and Embryology Act was passed in 1990

In US - 1992 Fertility Clinic Success Rate and Certification Act

Italy recently passed the new Medically Assisted Reproduction Law in March 2004

It is legal to put embryos in frozen storage in Spain but illegal to destroy embryos or to donate them to research, despite the fact that 74 per cent of Spanish patients with spare embryos in storage would like to donate them to research

Embryo Protection Act of 1990 in Germany

IMPLICATIONS

Debate on eugenics Screen/weed out bad

genes A society void of

diseases and “ugly” inherited genetic diseases as discussed above.

No burden on society to care for the handicapped

Little chance that couples en masse will screen embryos during IVF.

Disease is not widespread

Eugenics Cons

BABI’S TOLL ON HUMAN LIFE “savior sibling” that could provide stem cells to cure a

sibling with Fanconi's anemia Following IVF, a total of 30 human embryos were produced

-- 6 affected and 24 normal Of the 24 normal, only five were found to be human

leukocyte antigen (HLA)-compatible. In the first IVF cycle two embryos were implanted but failed

to grow. Cycles two and three were also failures. The fourth try proved successful and an unaffected child was born, from whose umbilical cord stem cells were retrieved to treat the sibling suffering from Franconi's anemia.

6 affected embryos never had a shot at life. Nor did the normal 19 offspring who were not a match for the transplantation. Of the five embryos who were implanted, their chance for survival was only between 10-20%.

Thus twenty-nine lives were snuffed out in order to produce one child who could act as a donor for an affected sibling.

ETHICAL ANALYSIS Religious Opposition Roman Catholic Church, for example, takes the

position that it involves the destruction of human life Jewish Orthodox religion believes the repair of

genetics is okay, but they do not support making a child that is genetically fashioned

Family planning via embryo sex selection Eugenics – BABI can currently test for more than 400

conditions, including single gene disorders and chromosomal abnormalities (aneuploidy and translocations

Proponents of BABI have argued that over 200 disorders can be 'prevented' by gender selection alone.

REFERENCES American Pregnancy Association. In Vitro Fertilization: IVF.

Accessed April 2nd 2013. http://americanpregnancy.org/infertility/ivf.html

YouTube. 3D animation of how IVF works. Accessed April 2nd 2013. http://www.youtube.com/watch?v=GeigYib39Rs

Right Diagnosis. Blastomere Analysis Before Analysis. Accessed April 5th 2013. http://www.rightdiagnosis.com/test/blastomere_analysis_before_implantation.htm.

Julio E. Pabon, M.D., F.A.C.O.G. Fertility Center and Applied Genetics of Florida Inc. Preimplantation genetic screening for all?. Is it wrong to do genetic testing on all IVF embryos? Accessed April 5th 2013 http://www.geneticsandfertility.com/pgd-or-pgs-is-it-wrong-to-do-genetic-testing-on-all-ivf-embryos/

Munro CL et al. The technology and use of blastomere analysis. American Journal of Obstetrics and Gynecology. 1994 Mar-Apr;23(3):229-34.

REFERENCES UN World Down Syndrome Day. Accessed April 7th 2013.

http://www.un.org/en/events/downsyndromeday/

Right Diagnosis. Down Syndrome. Accessed April 7th 2013. http://www.rightdiagnosis.com/d/down_syndrome/intro.htm

UN World Down Syndrome Day. Accessed April 7th 2013. http://www.un.org/en/events/downsyndromeday/

Grand Stand Down Syndrome Society. Accessed April 7th 2013. http://www.grandstrandds.org/do-you-have-a-brother-or-sister-with-down-syndrome-do-you-want-to-tell-the-world-how-awesome-they-are/

Down Syndrome Karyotype. Wikipedia. Accessed April 10th 2013. http://en.wikipedia.org/wiki/File:Down_Syndrome_Karyotype.png

Lesch Nyhan Syndrome. Wikipedia. Accessed April 10th 2013. http://en.wikipedia.org/wiki/Lesch%E2%80%93Nyhan_syndrome

REFERENCES X Link Recessive. Wikipedia. Accessed April 10th 2013.

http://en.wikipedia.org/wiki/File:XlinkRecessive.jpg

Tay Sachs disease. Wikipedia. Acccessed April 10th 2013. http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

 Malpani Infertility Clinic. Regulating, Reporting & Validating ART. Accessed April 10th 2013. http://www.drmalpani.com/regulating-ivf.htm

Preimplantation genetic diagnosis. Wikipedia. Accessed April 10th 2013. http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis

BABI: Another Anti-Life Genetic Baby Package. Lifeissues.net Accessed April 10th 2013. http://lifeissues.net/writers/mis/mis_06babi.html