Genetic Screening

Your Optimal Child Pretend that you are ready to have

children. Think about your hopes and dreams you have for that child.

Guiding questions Do you want a boy or a girl? What would you want him or her to look

like? What special traits/qualities/talents

would you want him/her to have?

Guiding Questions Are there any traits you would not want

your child to have? Why?

Genetic Reproductive Technologies Today, we can use technology to create

life and select life, including: Gaining genetic information about an

embryo or unborn fetus Help individuals conceive Allow individuals to select embryos based

on their genetic makeup Genetic screening/testing

Genetic Screening May alert parents to the potential

disorders and diseases their children ma experience before the child is even born

This can be done through: Chorionic villus sampling (CVS) Amniocentesis Preimplantation genetic screening (PGS)

We will get to PGS in a few days

Chorionic Villus Sampling (CVS) Performed vaginally or via a needle

through the abdomen to collect fetal tissue from the placenta Done at 10-12 week’s gestation

Amniocentesis Involves inserting a large needle

through the pregnant woman’s abdomen, uterus, and amniotic sac to obtain fetal DNA Done at 15-18 weeks gestation

Amniocentesis and CVS Both procedures are considered to be

“invasive” Can increase risk of miscarriage Some discussion about potential birth

defects resulting in these procedures Typically recommended for pregnant

mothers over the age of 35 They are at significantly higher risk of

having children with genetic diseases

Information from Amnio/CVS After the physician takes a sampling of

the amnion or placenta, the fetal DNA is tested for certain genetic abnormalities

Looking for Aneuploidy: an abnormal amount of

chromosomes Genetic mutations: “mistakes” in the DNA

code that can cause diseases Typically scientists are looking for specific

ones based on the family history

Now what? Early diagnosis enables:

1. Timely medical/surgical treatment of a condition before or after birth

2. Parental choice to abort a fetus with the diagnosed condition Ethics Committee of the hospital must be

consulted before an abortion can take place if after Week 12

3. Time for preparation in the psychological, social, financial, and medical science for a baby with a health problem or disability

Diseases Detected Down’s Syndrome Tay-Sach’s Sickle cell disease Cystic fibrosis Muscular dystrophy Turner Syndrome Anencephaly Spina bifida Fragile X syndrome Huntington’s Disease

Choose one of the following and create a Ppt in a group of 3 detailing: The method of

detection Cause of the disease Symptoms of the

disease Explanation of what

life is like Ie life expectancy,

level of care, health risks, etc

A Non-Invasive Alternative: PGD Preimplantation Genetic Diagnosis

(PGD) Method used to diagnose genetic

conditions when the embryo is at the 8-cell stage Yes, you heard me right: 8 cells

Only available to couples undergoing in vitro fertilization (IVF) Fertility treatment Women given hormone

injections to produce multiple eggs that are then placed in a petri dish with sperm 1 or more embryos

are then transferred to the woman’s uterus

PGS: How it works Because the embryo is isolated

in a petri dish before being implanted into the uterus, scientists can easily manipulate the cells

At this stage, all cells in the embryo are totipotent This means that all cells can turn

into another embryo if they are isolated The cells are not yet differentiated

so their fate has not yet been determined

Significance: You can extract one cell from the embryo and it won’t miss it

PGS: How it works After the cell has been extracted, its

DNA is analyzed Scientists look for

Aneuploidy genetic mutations other markers that would indicate any

childhood disease or adult-onset diseases

Since multiple embryos have been formed and tested, only the embryos that are free of genetic mutation will be implanted Couples can hand-pick the embryos they

want

http://youtu.be/2ixEDLa3Jlc

Legislation In the US, there is currently no

regulation of the use of PGD Left entirely to the discretion of providers

For example, one clinic may allow for gender selection while another may only use PGD to screen for severe genetic conditions

Legislation PGD is not allowed to performed in

Germany, Switzerland, Ireland, Australia, and Austria This has given rise to “medical tourism”

Other countries, like Japan, UK, and France have government regulation and legislation defining how PGS can and cannot be used

My Sister’s Keeper One application of PGS is to conceive a

child that could be a donor to a sibling with a disease

Molly and Adam Nash Molly was born in

1994 with Fanconi Anemia (FA) Genetic condition Cells cannot repair

their own DNA In order to save her

life, she needed a stem cell transplant to save her life

Molly’s parents decided to conceive a child using IVF and PGD so they could increase their chances of having as child without FA who would also be a perfect match for Molly

Brother Adam was born and he donated cord blood stem cells to his sister

Molly recovered and both children are doing well

Was this ethical on the parents’ part? How might this impact their family

dynamic? How would you feel if you were Adam?

Knowledge is Power What are some possible negative

consequences of having the power to “hand-pick” embryos?

Sex Selection PGS allows for sex selection

Couple can determine if they would like to implant a male or a female embryos

In the wrong hands…. Consider the cultural

implications of selecting the sex of the baby

In some cultures, boys are highly prized over female children Carry on the family

name Inherit property

What message does this send to males and females?

Would this result in gender discrimination

http://www.youtube.com/watch?v=ltVsGdmKsT4

Distributive Justice IVF is a very expensive treatment to

begin with, as well as conducting all of those genetic tests Is it fair to ensure that only to those who

can afford it be allowed to have children free of genetic diseases?

Preferential Selection based on Disease Couples can select

based on the “cleanliness” of the genetics of the embryo Can choose to have

a child free of common and testable genetic diseases

Could this result in discrimination of the disabled?

Scenario D Should there be government regulation of

the reasons why these embryos can be discarded or selected against?

History’s Dirty Past: Eugenics Eugenics = “good

genes” Philosophy: by

preventing the population of genetically inferior individuals from reproducing, many societal issues would be solved

Targeted immigrants They were “genetically inferior”

Poor “genetically lazy and unintelligent

In America, many individuals were sterilized against their will

Nazi Germany took this a step further by euthanizing undesirables Jews Homosexuals Mentally ill Disabled

Given the resources available to the poor and the ability to eliminate those with disease, is PGS a slippery slope to eugenics?