Twelfth Week Ultrasound Update: Nuchal Translucency, Autism and Zombies

There is only good news coming out of our twelfth week ultrasound.

Brief history: My wife contracted Fifth Disease around the time we discovered she was pregnant, saddling us with a 15 percent chance of miscarriage.

Yesterday we drove 4.5 hours to the Prenatal Diagnosis, Reproductive Genetics Unit of the University of California at San Francisco (actually located in Santa Rosa, Calif.).

We had an ultrasound to measure nuchal (neck) translucency, a pocket of fluid behind the baby’s neck. If the pocket was greater than 3mm, it would be abnormal.

A 2-D ultrasound image showing the baby's head and upper body. I added labels in the image that read as follows: open skull and tissue, hand ready to pick nose, bones forming, and nuchal translucency (as indicated by a black line).

Open skull? Wait a minute! Wait just one minute! (more details below, I promise.)

In our situation, it might indicate fetal hydrops, a build-up of fluid in the baby that would likely result in death this early in the pregnancy. Other parents with risk factors often use this test to look for increased chance of Down syndrome and two other genetic anomalies.

Our baby’s nuchal translucency was a safe, normal 1.7mm. Yay!

Our geneticist assessed our family history and factored it with the results of a blood test to give us more good news.

The before screening risk for a generic 33-year-old woman:

Our updated risk after screening:

  • 1 in 7,961 for Trisomy 21 (Down syndrome)
  • 1 in greater than 10,000 for Trisomy 13/18 (Patau and Edwards syndrome)

Doctors love graphs. Here is a bar graph we were given.

Two bar graphs showing our baby's reduced risk for genetic abnormalities, taken from a customized printout we were given.

This bar graph shows that my 33-year-old wife’s risk of growing a baby with genetic abnormalities is similar to that of a 20-year-old. Silly doctors; it doesn’t optimize well for web pages.

Here is a chart I made that better explains the situation.

Chart labeled a Graph of Stuff that shows our stress level going down as our miles driven goes up. Other points on the graph include my trust in Chinese-made toys, my wife's pregnancy pizza cravings, widgets and flatline. The flatline points are a straight horizontal line on the chart.

The most interesting point of the ultrasound was when we asked to hear the baby’s heartbeat so that we could record it and play it back later for our 3-year-old daughter. (She went to preschool that day, then stayed with a friend.)

We were told UCSF is not using its doppler (a motion/sound reading device) at this time. It seems that an in-progress study is looking at the possibility that certain types of high-power dopplers might contribute to autism. In the meantime, UCSF is playing it safe. I’m not sure of what use this information is; I’m just putting it out there.

My wife, a nurse, is quick to caution that there are many types of dopplers, and you shouldn’t confuse a shovel with a forklift.

The freakiest part of the visit was seeing the 3-D ultrasound. They call it 4-D, but come on, what does an ultrasound image have to do with space-time theory? Yeah, that’s what I thought you’d say.

I’m not a big fan of 3-D in utero images because the babies always look bubbled, unnatural and generally grotesque. And yet, I was surprised when our 3-D baby appeared on the computer screen looking like a zombie with its brain eaten out.

Here is something no one tells you about a 12-week-old baby. The bones of its skull are still forming. Its head is wide open like a wineglass.

Sure, there is skin covering the head, but it’s the equivalent of plastic wrap on a Tupperware bowl. The ultrasound looks right through it to show you an image that looks like your baby’s head has exploded. And due to the bubbly nature of the imagery, the baby’s arms looked like flippers and when viewed in motion he looked downright scary, like Village of the Damned scary.

A 3-D ultrasound image that makes it look like the top half of the baby's skull is missing. I captioned the image as Braiiinzz, a term reminiscent of zombie movies.

My baby looks like Han Solo frozen in carbonite. Can you believe people go to mall ultrasound booths to immortalize their unborn infants this way?

The ultrasound technician thought the image was “cool,” but after seeing a million in utero babies, she’s probably talking about the baby’s position and the degree of detail in the photo.

“Uhh, could you print me a 2-D image, too? Thanks.”

But to recap, the baby appears fine. We’ll get another ultrasound later as a final confirmation that will inspect the baby’s developed organs and also tell us its gender. And then, I think, we need to hold a baby naming contest with a cool prize.

Comments

15 Responses to “Twelfth Week Ultrasound Update: Nuchal Translucency, Autism and Zombies”

  1. Linda says:

    I’m so relieved and happy for you guys. What wonderful news!

    September 11th, 2007 at 7:00 pm

  2. Rev. Larry says:

    ah,oh now people will expect you to write about baby making skills , whole new field.
    CONGRADULATIONS
    the Rev Larry M. whose special blessing gave you special powers for proper baby making-way to go team
    very happy for us all
    Love, uncle Larry

    September 11th, 2007 at 9:23 pm

  3. Mark says:

    Very cool news AJ. Since you refer to the baby as “he,” I assume I missed the post where you confirmed the sex. Welcome to the wonderful world of parenting a boy, get ready for a fun ride.

    September 12th, 2007 at 1:10 pm

  4. Adrian says:

    What if the “updated risk after screening” was the same as or greater than the “before screening/generic” test results?

    September 12th, 2007 at 1:14 pm

  5. AJ says:

    Mark, nah, we don’t know the baby’s gender. I just get tired of calling a baby “it.” Calling the baby “she” might confuse “it” with my 3-year-old daughter, so I wrote “he.”

    Adrian, my understanding is that if our nuchal translucency was abnormal, they would have performed an amniocentesis. That’s where they stick a needle through the abdomen to take a sample of amniotic fluid from the uterus. Then they do genetic testing to determine if the baby has fetal hydrops, Down syndrome or another genetic issue.

    As is, aside from the ultrasound in Santa Rosa, a blood test was performed from a blood sampling kit we received by mail a few weeks earlier. We were sent a couple tiny plastic boxes with a needle-size hole in each. I pushed the box against my wife’s finger, and after a certain amount of force, the needle shot out and pricked her. It’s a one-time-use-only gadget. She then smeared the blood on a test strip and we mailed it off.

    September 12th, 2007 at 1:51 pm

  6. Priscilla says:

    Congrats on the good news. I hope you guys can completely enjoy the rest of the pregnancy!

    September 12th, 2007 at 5:51 pm

  7. Chief Family Officer says:

    Yaaaaaaaaaaay! Congratulations!

    So did you get a guess at the gender? Both times I asked my peri at the 12-week u/s and he pretended I was twisting his arm, then immediately blurting out that it was a boy. :)

    September 12th, 2007 at 8:54 pm

  8. John and Judi, Portland says:

    You’re calling your wife “. . .a generic 33-year-old woman. . .?

    For shame.

    If she were generic, she wouldn’t be a phenomenal nurse, fantastic wife and great mother!

    Congratulations to the three, er, four of you. Our best for an uneventful pregnancy and birth.

    j et j

    September 13th, 2007 at 7:25 am

  9. Maria says:

    So happy to see your baby will be healthy, but for your readers info…there are many support sites for trisomy 13 & 18 support. With the early screening, many opt to terminate, yet the families who do have children who are survivors with these syndromes tell of the many blessings these kids bring.
    http://www.hopefortrisomy13and18.org/http://www.livingwithtrisomy13.org
    http://www.trisomy.org
    Enjoy your pregnancy
    Maria

    September 13th, 2007 at 7:40 am

  10. Bob says:

    congrats! Glad to hear everything is good..
    Here’s to raising a boy :) I’ll be right there with you in a few weeks

    September 13th, 2007 at 7:43 am

  11. Jessica says:

    Maria,

    Loved your post. As the mother of an amazing daughter with Down syndrome, it is sometimes hard to accept that people actually terminate based on a trisomy diagnosis. In any case, I was 1 in 7,691-God works in mysterious ways and trumps science ;)

    I am glad to see that the baby is healthy.Best of luck

    September 13th, 2007 at 8:25 pm

  12. Dani says:

    So glad to hear that everything is going well. We’ve been hoping and praying for you.
    We thought our son went from looking like a blob, to a teddy graham, finally to alfred hitchcock. (There was a crazy profile ultrasound, luckily he bears no resemblence when we finally saw him).
    Congrats and best wishes!!

    September 18th, 2007 at 8:39 am

  13. Lori Schaefer says:

    wow. and I thought you didn’t have a sense of humor. I laughed until I thought I would pee. especially your graph and the part about Han Solo frozen in carbonite, complete with a link so I could refresh my memory as to what Han Solo frozen in carbonite actually looks like. I will never look at nuchal translucency the same way again.

    September 18th, 2007 at 11:00 am

  14. AJ says:

    Lori, I apologize. I did not intend for my words to cause you incontinence. May you find serenity in your life.

    http://www.serenity.com/

    September 18th, 2007 at 5:14 pm

  15. Sun says:

    Thanks for this story – was helpful to us who go to our test in just a few weeks.
    love the graph!! LOL

    February 1st, 2009 at 12:12 pm