Non-Invasive Prenatal Testing (NIPT): A False Positive Story

Missing X ChromosomePregnancy sucks!

I know there are hoards of women out there who think otherwise and who take every opportunity to remind those not towing the party line that pregnancy is something blissful. But they are wrong. And yes, I’m a man telling pregnant women that they are wrong about how they feel.

My wife is pregnant (thank you, thank you, thank you, very proud, very excited, no idea what’s in store for me).

The first trimester was strange and surreal. A sense of relief that the system actually works. A puffy-chested manly-manly feeling that “I did that!” A simple reality as we saw a first ultrasound, heard a heartbeat, and said goodbye to the neighborhood sushi restaurant. And every time my wife went to the bathroom I held my breath in anticipation of miscarriage. She did too.

In what felt like forever and no time at all we were at week 12, the end of the first trimester. Standing at the gates of a public declaration of procreation, or rather sitting at the Social Security office to change my wife’s legal name (these things are always so banal), the phone rang. It was her OBGYN. The “NIPT” blood test results had come back to indicate that the fetus had tested positive for Monosomy X.

Monosomy X (also known as Turner Syndrome) is a chromosomal abnormality where a female fetus has only one complete X sex chromosome. It causes miscarriage in the majority of fetuses with the disorder, and those that make it to term can suffer from a wide variety of symptoms later in life. These include short stature, low-set ears, heart defects, infertility, scoliosis, hearing loss and many others. (Find out more here.) Choosing to terminate such a pregnancy is a common decision, and one that we were immediately confronted with.

Devastating news is a strange beast indeed. It warps time, contorts one innards, and distorts the senses. In a moment, the world is an alien and unknown place, its colors and smells unfamiliar and confusing: the dusty haze of the Social Security office, the buzzing of sound, and the smell of stale cigarettes emanating from the person sitting next to me.

We were told that there was a 99% likelihood that the results of the blood test were accurate, and that my wife needed a CVS test (chorionic villus sampling) to confirm these results. This test involves inserting a long needle in the uterus to remove placental material, which is then used to confirm the chromosomal makeup of the fetus. There is a short window of opportunity for a CVS test (usually between 10-12 weeks) and, similar to an amniocentesis, it carries a certain risk of miscarriage. Frantic calls were made, appointments were set, and we wound up the following day at the Prenatal Diagnosis Center at Cedars Sinai.

I find it hard to write about the week that this happened. Gut wrenching emotion, unrelenting and crippling as it was, is difficult to put into words. My wife and I, having gone through this together, share an emotional understanding that can be conveyed in a look (albeit a look we choose not to give each other very often). But how can one articulate such anguish to others? And why would you want to? In writing about a time of distress one either fails to convey it accurately, thereby missing the point of writing about it, or invites it back to take up residency. And I know I do not want to feel that way ever again.

However, I write because I found hope in reading what others had written: in the forums of people coping with similar bad news, and of the sliver of hope that the results would prove to be a false positive. Those were the stories I sought out, read over and over, and prayed for.

The test results of the CVS were to take 10-14 days to come in, and I knew neither my wife nor I could survive waiting that long. We opted to pay out of pocket for a FISH test (fluorescence in situ hybridization), which would give us preliminary results within a few days. Yes, this was expensive. No, I didn’t care. All that mattered was knowing definitively what we were up against.

And so we waited. And waited. I drifted in and out of work. We went to many a bad movie. We sat in silence. We cried. We slept poorly. We ate poorly. And all the games we played as parents to be (Do you think she’ll have your nose? What do you think of this name?) vanished from our repertoire. We were struck dumb.

That Friday morning, thick with grief, we got in the car to go see yet another movie. Not five minutes from our home, stopped at a traffic light next to our local gas station and a construction site (these things are always so banal) the phone rang. It was the genetic counselor at Cedars Sinai. The FISH results had come back and it was GOOD NEWS! The fetus was healthy. They found the missing chromosome, the missing X. The initial test was indeed a false positive.

We cried. We breathed. We called the few members of the immediate family that knew what we were dealing with to tell them that our nightmare was over. And then we went to the supermarket and stocked up on food.

What is relief? Knowing that everything will be ok? We still don’t know that. We have many weeks to go before our daughter is born, hopefully healthy, and hopefully followed by years of worry. What has happened, rather, is that we have jettisoned any sliver of innocence we may have had. That tiny moment in time when everything is utter bliss, and before all the anxiety of parenthood sets in, is lost to us.

Throughout this ordeal we learned of a whole new type of sorrow (who knew there were so many different types of pain?), but also a whole new type of appreciation and love for one another, and for the child my wife is busily building.

So we remain hopeful.  And grateful.  And eager to welcome our daughter into the fold to teach her a thing or two.  And for now we accept our reality of subtle but incessant worry, we laugh at the painful gas, and we revel in not having a clue what’s next.

Side Note:

The test my wife did was the “Verifi”. Apparently, all the documentation on how accurate these tests are comes from the manufacturers themselves. These tests have only been available for a few years and appear to be missing much needed independent scrutiny. The arrogance and cruelty of a company putting out information that promotes their product while subjecting people to unnecessary mental anguish is reprehensible. Were it not for the forums I read online, and the doctor who administered the CVS telling us he does indeed see a fair number of false positives, I don’t know how we would have made it through.

Selfie Rage

Dylan Thomas with Smart Phone

Dylan Thomas with Smart Phone

After posting my previous blog entry (6 Tips for Taking the Perfect Selfie) I was inundated by friends expressing their Selfie Rage via private email or text message.

“Thanks for ruining my morning,” writes one friend.

“I hesitate to post a public response to your Selfie blog because I am severely triggered by it,” writes another. “People are so annoying, puckering and flexing. Now I am angry. I think I will get drunk.”

Yet another writes, “I have a friend who looks poised, posed and perfect in every Selfie, then posts it publicly on Facebook, making me cringe.  Do I cringe because I cannot look as pretty in a photo or is it all the fun she is supposedly having? Is it because everyone else takes so many fucking Selfies…? WTF?”

For those of you perturbed by your emotional knee-jerk reaction, or should I say flood of searing fury, consider these bastardized words of Dylan Thomas:

Do not the Selfie try to fight,

Its phonyness is Facebook’s way.

Rage, rage against the dying of your plight.


Though wise you are and ever right,

Puckered Selfie lips have naught to say.

Do not the Selfie try to fight.


My dear, alas, you cry for spite

Of inane deeds, made public, that go not away,

Rage, rage against the dying of your plight.


Weaker souls than yours in social media delight,

And will never learn they have lost their way,

Do not the Selfie try to fight.


Grave men, and women, who see with blinding sight

The stupidity of others, to you I say nay,

Rage, rage against the dying of your plight.


And you, my friend, there on that sad height,

Waste not your condemnation, I pray.

Do not the Selfie try to fight.

Rage, rage against the dying of your plight.

6 Tips for Taking the Perfect Selfie

Selfies are so 2014. Obama, Ellen, You!

There is no simpler way to proclaim your inclusion in the contemporary webisphere than to reach out arm, peer wistfully into lens, and hit send.

The possibilities for fun are endless say I, a self-professed Selfie lover.  It’s a form of self-expression that lays waste to ones sense of shame and decorum and, with a click, strengthens the bonds between people. I’m not kidding!

In the digital era where all things social-media seem to do naught but make us aware of how shabby our lives are in comparison to others (look at all the “Likes” so-and-so got for their smiley happy Facebook photo) the Selfie offers an opportunity to make a deeper connection than its superficial nature might suggest.  Simply let go of any notion of being cool (or, heavens, hip!), forgo the need for public approval, and be ever in the moment.

1. Just the Two of You

My Life Without You

Oscar ceremonies aside, Selfies work best when created with no more than one other person in mind.  A private Selfie can work as a wonderful inside joke between friends, lovers, etc.  Emailing or texting a uniquely crafted Selfie to a single recipient is a way of saying, “I am thinking of you and have no problem making a fool of myself to show it.”  Physical distance between friends collapses into an intimate, privately shared, moment. 

2.  Look Bad

Ugly Selfie

You cannot look good in a Selfie. Any attempt to do so will make you look like a douchebag or a slut, all that posing and puckering of lips.  So don’t bother.  Instead, take the opposite approach.  Look as haggard and disheveled as possible.  This will instill in your audience-of-one a sense of joy as they marvel at how awful you look.  It also enables them to feel better about how crappy they are looking at that moment too.  The great Selfie says, “Look at me, I’m just as ordinary as you”, as opposed to “Look at me, these lips were made to suck… never mind.”

3.  Obscure Yourself

Selfie With Fake Fruit

Looking bad is easy to embellish with the help of any at-hand prop.  Plant, doll, plastic cup.  Any of these can be used to ensure you look as ridiculous as possible.  This will also elicit a guaranteed response from viewer to the effect of, “Wow, look how they’re hiding their face with the bowl.  Super cool.”  And it is!

4.  Interact with your Surroundings

Paris Whisper Selfie  Selfie with Little Woman on Shoulder  Selfie With Mannequins

For all the self-aggrandizing ego inflation that the Selfie can engender, you are the least interesting thing about it.  The context within which you place yourself, however, is where the fun really resides.  It’s that sly juxtaposition between you and your surroundings that is the mark of a great Selfie.  DMV line, Grade “C” diner, cancer ward. You get the idea.


Bathroom Selfies

Enough said.Bathroom Selfies5.  Take Multiple Versions

Selfie with Wine Glass 1  Selfie with Wine Glass 2  Selfie with Wine Glass 3

Any photographer worth their salt knows that you aren’t likely to get the shot right the first time.  Keep taking pictures until you are totally satisfied.  You’ll be happier with the results, and everyone around you will appreciate watching you perfect your shot.  Yes, they will also shake their heads and “tut-tut” at your insanity, but it will give them a reason to smile despite the doldrums of their equally mundane lives. 

6.  Carpe Selfie

Selfie with Baby Mannequin

Lost at J.C. Penney?  Carpe Selfie.  Bored at work?  Carpe Selfie.  Traffic at a standstill on the 405 again?  Carpe Selfie.

Any moment of life’s banality can be instantly transformed into a Selfie opportunity, thereby infusing it with purpose and wonder.  Remember, though, you’re not in this alone.  Let thoughts of your recipient guide you to lavish every Selfie with love, care, and a sense of joy.

And there you have it, 6 simple steps to celebrate your connection to another human being.  With you as its star, the Selfie becomes a tool for self-realization, profound connection, even art itself.

Eat your heart out, Annie Leibovitz.


PS – Have you noticed how everything lately is a list?

21 Absolute best wardrobe malfunctions

13 Images that will restore your faith in humanity

18 Everyday things you aren’t doing right

Of note is the seemingly random number of items, as if the collection is so honest the compiler couldn’t round it up to 20, or down to 10.  So wonderfully down to earth that you simply must read.  It isn’t definitive, and that’s its allure.  Or is it just a ploy to get more hits?