This document discusses pre-implantation genetic testing (PGT) during in vitro fertilization (IVF). Specifically, it discusses blastomere analysis before implantation (BABI), a type of PGT used to test embryos for cystic fibrosis, Down syndrome, Tay-Sachs disease, and Lesch-Nyhan syndrome. It provides details on the IVF process and each of these genetic conditions. It also discusses the ethical issues surrounding BABI, including debates around eugenics, implications for human life, and religious opposition.

1. PRE-IMPLANTATION GENETIC TESTING
(BABI) DURING IN VITRO
FERTILIZATION
Yosok Pun

2. MICROSCOPE STAGE WITH
MICROMANIPULATORS (IVF)

3. 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

4. BABI
 Acronym for Blastomere Analysis
Before Implantation.
 Currently used as a diagnostic testing
of four diseases.
 Cystic Fibrosis
 Down Syndrome
 Tay Sachs
 Lesch-Nyhan Syndrome

5. A CELL OR BLASTOMERE BEING REMOVED
FROM A DAY 3 EMBRYO

6. BLASTOMERE ANALYSIS

7. DNA AMPLICATION

8. 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

9. 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.

11. DOWN SYNDROME KARYOTYPE

12. 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

13. X LINK RECESSIVE

14. 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

15. 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

16. IMPLICATIONS
Eugenics Cons
 Debate on eugenics  Little chance that
 Screen/weed out bad couples en masse will
genes screen embryos during
 A society void of IVF.
diseases and “ugly”
inherited genetic  Disease is not
diseases as discussed widespread
above.
 No burden on society to
care for the handicapped

17. 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.

18. 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.

19. 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_impl
antation.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.

20. 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

21. 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