Deciding on genetic screening

At my first Obstetrician appointment at 10 weeks we talked about the options for genetic screening.  My first homework assignment was to go away and figure out what we would like to screen for….in addition to finding out what our insurance would cover.

Aneuploidy Testing:  These are the tests available for screening Trisomy 21 (Down Syndrome), Trisomy 18 (Edward’s Syndrome), Trisomy 13 (Patau Syndrome) and open neural tube defects (i.e. Spina bifida and anencephaly).

My OB offers three options for screening:

  1. NIPT- Non Invasive Prenatal Testing (i.e. Harmony or Verify).  This is a simple and accurate non invasive prenatal screening blood test.  The test can be performed anytime after 10 weeks of gestation.  In addition an AFP (alpha-fetoprotein) blood test to test for neural tube defects is also taken at this time.  It is also possible to discover the gender of your baby through this test.  Approximate cost $825.
  2. Sequential Screening with Nuchal Translucency.  This is a two-step test to detect whether a fetus is at increased risk.  The test has a narrow window for testing (first step is performed between 10-13 weeks of gestation).  It includes 2 blood draws and an ultrasound.  The ultrasound measures the amount of fluid behind the baby’s neck (called the nuchal translucency NT).  The blood tests measures three different hormone levels, these measurements in combination with maternal information such as height and weight are used to calculate the baby’s risk of Down’s Syndrome or Edward’s Syndrome.  The AFP blood test (described in 1) is also taken.  Approximate cost $580
  3. Quad Screen (aka quadruple marker test).  This is a blood test that measures levels of four substances in a pregnant woman’s blood – AFP, hCG, Estriol and Inhibin A.  typically this screen is done between weeks 15 and 20 of gestation.  Approximate cost $305.

If any of tests come up with a positive result then additional testing can be performed (These are the more invasive tests you may hear about such as CVS or amniocentesis where the doctor extracts a sample of the baby’s cells from the uterus.  Amniocentesis is where a thin needle is inserted through the belly and into the amniotic sac to take a sample of the amniotic fluid.  CVS is where the doctor uses a needle through the belly or cervix and takes some placenta cells.  These tests carry a very small risk of miscarriage).

Additional Screening Offered:

  1. Cystic Fibrosis.  Cystic fibrosis is the most common inherited disease of children and young adults.  The carrier frequency is 1 in 24, to 1 in 97.  Both parents need to be carriers for a child to be affected (25% chance).  1 in 2500 children born are affected.  Cystic Fibrosis is a disorder of mucus production and produces abnormally thick mucus leading to life threatening lunc infections, digestion problems, poor growth, infertility and more.  Symptoms range from mild to severe, but individuals with severe disease may die in childhood.  With treatments today, people with Cystic Fibrosis can live in their 30s.  Cystic Fibrosis does not affect intelligence.  Approximate cost $800.
  2. Spinal Muscular Atrophy (SMA).  SMA is the most common inhered cause of early childhood death.  The carrier frequency is 1 in 47 to 1 in 73 in the US and both parents need to be carrier or a child to be affected (25% chance).  1 in 11,000 children are affected.  SMA is a progressive degeneration of lower motor neurons.  Muscle weakness is the most common type with respiratory failure by the age of 2 years old.  Muscles responsible for crawling, walking, swallowing, and head and neck control are most severely affected.  Approximate cost: $625.
  3. Fragile X Syndrome (the most common inherited cause of developmental delays).  Fragile X syndrome is an ‘X-linked’ genetic disease which means it is only carried by the mother.  Unfortunately, 1 in 250 females are carriers and a child has a 50% chance of being affected if this is the case.  1 in 4000 boys is affected with Fragile X and 1 in 8000 girls.  Approximately 1/3 of all children born with fragile X also has autism and hyperactivity.  Approximate cost $390.

What have we decided?

We decided we would like to do the NIPT (Non Invasive Prenatal Testing) for the aneuploidy testing.  Why? The accuracy is significantly higher than the other two tests and the false positive rate is very low (0.1%) compared to the other two tests (sequential screening rate is 3.5%, quad screen rate is 5%).  Our insurance also covers it, plus it would be nice to have an idea of the gender – although that is a Brucie Bonus because the chances are we are going to wait until a lot later for a gender reveal party, so we are in no hurry!

We will also ask for Fragile X syndrome screening too because one of my brothers has autism and my mum doesn’t know if she is a carrier, so it makes sense to take the test.

My next OB appointment is tomorrow – Monday – afternoon to talk through what we would like to do and to go over my blood test results from my first appointment (they all came back clear, including my slight anemia which I was worried about, so that’s good).  If I have my blood drawn tomorrow then the results will take 2 weeks to come back.  Another 2 week wait!!

On a side note, I didn’t know much about Down’s syndrome, Edward’s syndrome or Patau syndrome….so I had a read about it all.  It’s very interesting to find out more and I’m glad I have educated myself about these a bit more.


The ethics of ICSI – Intra Cytoplasmic Sperm Injection

ICSI for unexplained infertility

I felt pretty well versed and comfortable in the ethical debate behind IVF, well, so I thought until we came across ICSI.  Intra-Cytoplasmic Sperm Injection (ICSI) was recommended by our doctor because we have been diagnosed with unexplained infertility.  She explained that this procedure is worth trying because in our case of unexplained infertility there could be a chance that there may be something in the fluid surrounding my eggs preventing fertilisation.  ICSI overcomes this potential problem by injecting a sperm directly into the egg, avoiding the fluid.  It is important to note that with unexplained infertility there could be many other reasons unknown to us why we have not been able to get pregnant yet; we just can’t pinpoint the exact cause at this moment.  By performing ICSI (for a few thousand dollars more) it slightly increases our chances of success.  I have been looking into the evidence behind unexplained infertility and ICSI and the jury is out on whether it is worth while or not.  Despite the mixed reports on the internet, I trust our doctor, and as our fertility clinic is attached to a medical school I like to think that they are up to date on these things.

I hadn’t thought much about ICSI previously because Chris’s sperm is pretty good, I didn’t think it was on the table.  So I hadn’t read much about the procedure.  As I began to read up on the procedure, I started to think more about the ethics and morality of it.  Selecting the ‘best looking sperm’…is it any different to selecting the ‘best looking egg or embryo’ as would be the case for normal IVF?  And so I decided to look into it a bit more to understand what ICSI really is, and the considerations for and against this artificial reproductive technology procedure.

This post is just me putting ideas out there and exploring the issues, I do not necessarily agree with everything written here.  I may have been unintentionally selective or biased in some of my arguments, there are probably many more arguments for and against ICSI, so please feel free to comment and add at the bottom of my post.

What is ICSI?

ICSI – Intra Cytoplasmic Sperm Injection is an in-vitro fertilisation procedure that has been in use since 1992.  Fertilisation is achived by the direct injection of a single sperm into the cytoplasm of the egg.  The sperm can be extracted from fresh or frozen ejaculate, as well as being extracted directly from the testes (yikes, sorry guys, doesn’t sound fun at all).  The egg is prepared to facilitate penetration of the sperm.  The preparation of the egg includes enzymatic treatment and micro dissection of the cells which surround the egg.  Injecting the sperm bypasses the normal interaction it would have with the egg upon first encounter.  The deliberate selection of sperm for the procedure involves an assessment of selection criteria including: size, form and mobility of the sperm.  Despite the selection criteria, there is no guarantee that the sperm is actually ‘normal’ and therefore, there is no guarantee that fertilisation will occur.  It is even possible to select X or Y sperm to select gender, but only few fertility clinics offer gender selection for when it is necessary to avoid a known genetic disorder being passed.  I have also read about some fertility clinics offering gender selection if the family has one child already, and they want to ‘complete the family’ by selecting the opposite gender of its sibling.  This totally blows my mind.  After the sperm is injected into the egg, the egg is placed in an incubator and checked the next day for fertilisation.  If fertilisation is successful, the embryo is left for 2 or 3 days and then a decision is made whether to transfer the embryos back into the woman’s uterus for the next stage implantation.

Statistically speaking, there is evidence that ICSI slightly increases the pregnancy rate (but not statistically significant) compared to normal IVF.  The spontaneous abortion rate with ICSI is slightly lower, but this maybe as a result of the younger age of the mothers and the absence of female-related infertility.  The frequency of multiples is about the same (probably because the policies for number of embryos transferred remains the same).  The statistics for randomised trials of normal IVF v ICSI show that there is no significant difference.  Some researchers suggest that ICSI should only be reserved for the use of severe male factor infertility.  However, the use of ICSI is on the rise and becoming the new normal as infertility clinics like to reduce the risk of failure for the patient.  I can understand why that little extra % chance all adds up.

Ethical and moral considerations of ICSI – the arguments pro and against.

All ethical debates relating to IVF still apply to ICSI.  But ICSI may be considered effectively as a further layer of ethical debate  because we are potentially further ‘messing with nature’ by selecting one single sperm.  Often Pre-Implantation Genetic Diagnosis (PGD) will be part of ICSI, where there is a screening of cells of pre-implantation embryos for the detection of chromosonal disorders before an embryo transfer.  We are not doing PGD.  This can also add a further level for debate.

I will start with what I have found regarding the pros of ICSI, and other Artificial Reproductive technologies, followed by the against arguments…

Pro ICSI: The right to procreate.  To want a child is probably the most legitimate need in the world.  The right to found a family is one of the most important human rights as declared in the Universal Declaration of Human Rights (948, Article 16.1)  ICSI enables and supports this right.

Pro ICSI : Genetically related offsping. Before ICSI was possible, couples with male infertility would likely have resorted to donor sperm, or due to religious or personal beliefs would have rejected the use of a donor and remain childless.  With ICSI, it is possible for couples to have a child that is genetically related to them that previously was not possible.

Pro ICSI: Reducing the risks to the couple. If natural IVF was chosen over ICSI the woman may be unnecessarily putting herself at increased risk, physically and mentally for both partners.  For instance, if natural IVF were to fail first time round, ICSI may have prevented failure.  There are no guarantees, but as a couple puts themselves through multiple rounds of IVF, the physical and mental stresses increase, including the financial burden.

Against ICSI: The risks to the child itself.  There is much debate about the use of ICSI in male infertility and associated genetic abnormalities.  Chris does not have male infertility, so the risk of genetic abnormality is supposedly lower.  But the case for natural selection is negated with ICSI, there is no competition as would be with natural fertilisation, the chosen sperm may be a factor in genetic malformation.  There is also a risk of choosing a sperm that is immature and may interfere with the process of genetic imprinting and could result in growth retardation and functional disorders.  However, there has been little evidence to support these concerns.  Having said there is little evidence, ICSI has been around only since 1992, so children born from ICSI have not reached far into their adulthood and so studies are limited on the long term health related issues of ICSI born children.  Not to say the least, that the long term generation effects of ICSI on the population overall are not well understood and are only theorised.  For example, will infertility be passed? In itself, will ICSI simply contribute to further medicalising in the future?

Against ICSI: Multiple Embryos.  With IVF, to give a couple the best chance for a pregnancy multiple embryos are produced, grown, and then implanted into the uterus.  Some embryos may be discarded if they aren’t of good enough quality to present a healthy chance of pregnancy.  ICSI increases the likelihood for the generation of surplus embryos.  For some people, each embryo represents a life and so the disposal of embyros is considered in the same light as abortion.

I found one eloquent and well articulated argument that explains why some people are against multiple embryos “Where doubt exists on the level of fact, the integrity of conscience requires that the presumption be in favour of the life.  There is a classic example, if a hunter hears a rustling noise in the bushes, and is unsure whether it is a deer or another human being, he must assume it is a human being until such time as he can establish that it is not.  Similarly we may accept the argument that there is scientific uncertainty as to the precise moment when an individual human life begins.  That uncertainty, however, does not remove the obligation of care and respect for what certainly has the potential to become, and may already be, a distinct human individual.”

Against ICSI: Human Error. I have read about people worried about sperm/eggs getting mixed up in the laboratories.  We learned that sperm is dyed a certain colour for each patient so there is no confusion – this was why Chris’s sperm was purple!!  But to err is human after all and so are we potentially increasing the risk for a morally complex problem?

Chris's purple sperm

Chris’s purple sperm

Partial ICSI – overcoming some of the issues at hand?  Partial ICSI is where some of the eggs are left to fertilise ‘naturally’ in the petri dish as with normal IVF, and the rest of the eggs are injected with individually selected sperm as ‘back up insurance’, just in case normal fertilisation does not occur naturally.

There are many different valid and understandable viewpoints about assisted reproductive technologies like IVF and ICSI.  I am the type of person who respects others’ viewpoints and tries to understand as much as possible all sides of an argument.  I am an analyst by profession so I like to think I am good at that.  We have decided to do IVF and ICSI knowing these issues.  I just hope that others can equally respect our decision for IVF and ICSI.  But I now feel suitably versed to think about some of the important ethical and moral issues surrounding these artificial reproductive technologies.

Other notes and interesting references

On a side note, I found an interesting statement as I was researching that I wanted to share with you, it is about IVF and women’s rights in general.  Mary Anne Warren, (a philosophy professor who wrote a lot about abortion and criteria for personhood) wrote:

“If women’s right to reproductive autonomy means anything, it must mean that we are entitled to take some risks with our physical and psychological health, in the attempt to either have or not have children.  Neither abortion nor many forms of contraception are entirely safe, but women sometimes reasonably judge that the alternatives are even less desirable.  Having a wanted child can be as important a goal as avoiding an unwanted birth.”

Other references which discuss some of the more interesting medical facts than I am not willing to describe in my blog as I am not a medical professional or just interesting…

Potential Health Risks Associated to ICSI: Insights from Animal Models and Strategies for a safe procedure, Front Public Health. 2014. 2: 241.  Accessible here:

Ethics of Intracytoplasmic Sperm Injection: proceed with care, Wert, G.M., Human reproduction, 1998 vol 13 (1)  Accessible here:

Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders, Human reproduction update,  2008, vol 14 (1), Accessible here:

Ethical issues in Assisted Reproductive Technologies, a presentation by Effy Vayena:

Ethical issues arising from the use of Assisted Reproductive Technologies, Dickens, B.M., Accessible here: