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.


PC Diary: My first OB appointment

The Pudding Club Diary @ 10w2d

I have been living in the moment for the past week.  Helped by my wonderful family visiting me all the way from the UK (my mum, gran, aunt and uncle).  I took a week of leave and we showed them the wonderful sights, sounds and tastes of Virginia!  Well…local Virginia at least.  This has definitely been one good way to keep in the present.  But not long after they departed I started to begin to worry about my upcoming Obstetrician appointment and scan.  I hadn’t really been feeling the symptoms I had previously – tiredness and nausea mostly.  But then Sunday & Monday came and I felt queasy all day and absolutely shattered.  The yawning was incessant!! So that put me back in my place and I was less worried….but then this morning as I drove to the doctors I started thinking what if there was no heartbeat? What if it was way behind?  Just before we headed into the ultrasound, there was a couple crying.  My heart felt for them, I shed a little tear.  I reminisced to our ectopic pregnancy, waiting to collect the methotrexate to terminate the pregnancy in the Children’s hospital, crying.  I worried some more for us.

We were called back to the ultrasound room and I was excited when the technician didn’t ask me to strip from the waist down.  I was getting a transabdominal ultrasound this time! Woohoo!!!! My ovaries are still super enlarged and it got a bit uncomfortable for a moment.  But that didn’t matter because there was our little rocky, literally waving at us and wriggling! We saw the profile of Rocky’s teeny tiny hands and feet.  We didn’t get to hear the heartbeat, but it was doing a strong 166BPM.  Rocky measured spot on 10w2d.  We were given our souvenir printouts and I was moving onto the next part of the appointment.

As this was my first time at this OBGYN I had the most thorough exam, medical history and tests done in my life.  Probably more than all our infertility testing!!!

I had EIGHT vials of blood drawn for various tests including a few extra for toxoplasmosis (because we have cats) and for my iron levels. Yey.  Should have just donated my blood whilst I was at it!  I also had a pap smear, a breast exam and a very thorough pelvic exam.  My poor tummy went through it all today, it’s a bit sore now 😦

I was given a big information booklet which also included a description of all the prenatal screening tests we may want to have and how much each one cost (helpfully along with the insurance code so I could phone my insurance and check for coverage).

We also talked about a few things that they will check for because Rocky is an IVF baby.  We will see a Perinatologist (someone who specialises in fetal medicine) at the hospital to check the baby’s heart at around 5 1/2 mths (fetal echocardiagram).  We will also not be allowed to go beyond 41 weeks – her explanation wasn’t particularly compelling, but I’ll go with the flow!  She said that as we have an IVF baby they don’t like to get into complications so would induce before then….???!!!

In other exciting news I took my last progesterone suppository last night and removed the estrogen patches this morning…I am now drug free!  A first for quite some time.  Whoop whoop!

Today Chris told me his favourite part of the day was when I was looking at our ultrasound photos and I smiled and excitedly said to him…”It had little cute tiny feet!”.  He said it’s been a long, long time since he has seen me this happy and it was lovely.

And he was right, it was all very lovely too.