Several months ago,pregnant with my second baby and at my 16 week appointment,I thought my biggest problem that day was that I have no veins.Literally.I have a port implanted in my chest for IV access because I have chronic health problems,我的静脉被完全利用和滥用了。They get blood out of my knuckles now;这是他们的新把戏。"Vaginal bleeding?" both the nurse and doctor ask me,after routine weight and blood pressure checks.不，我回应，and get instructions to visit the lab and come back in a month.在低风险妊娠期，出血是他们最关心的。官网下载beplay体育ios版
对我们的第一个孩子，我们做了tay-sachs和囊性纤维化测试，in addition to everything else.This time it was just the "everything else." I had heard of friends who had had this new "magic testing" at 8,9,或10周，但他们都在35岁以上，或者有某种家族史，或者遗传疾病风险增加，所以我做了中期的验血，继续我的快乐之路，and really never thought about it again.我第一次怀孕期间的每一个测试，官网下载beplay体育ios版and my first trimester blood work for this second 官网下载beplay体育ios版pregnancy,all I ever heard was "normal." Not this time.
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The nurse called and said something that she tried to make sound innocuous,but obviously wasn't.唐氏综合症风险增加1:300的机会。Now,I get that a 1:300 chance means that there is a 299:300 chance that my baby is fine,但当你发现正常情况是千分之一的机会时，那就是心动过速开始的时候。
What now?Well,你可以做羊膜穿刺，they inform me pleasantly.That has a 1:270 risk of miscarriage.No thanks.Oh,and there's also that "magic test" that has an actual name.It's called Non-Invasive Prenatal Testing (NIPT),and it is still technically a screening test,but it is far more accurate and there is no risk to the baby or mother.让我见鬼去吧，thank you very much!
在与基因顾问会面之后，其实际职务应为“博士”。Doom," I gave my knuckle blood and went on my way.Not so merry this time.It was THREE LONG WEEKS of no sleep,很多哭泣，如果有的话，试图分散注意力，and Googling.哦，这么多谷歌搜索。是啊，this test takes THREE LONG WEEKS to get results.I know that at some point during that time,在读了一篇又一篇关于我的孩子可能健康的文章之后，一个又一个留言板上写着他或她可能不是，我在谷歌上搜索了实际问题，“我的孩子有唐氏综合症吗？”如果不是疯子，I don't know what is.
在这三个漫长的星期里，the few people I told either knew someone who,or had themselves had,a scary result on a prenatal screening test.我是说，我知道犹太人更容易患遗传病，但是让每个人都有或知道一个恐怖故事是非常特别的，and even crazier is that everyone who told me a story…that baby turned out to be 100% healthy.
我的也是。三个星期没睡，Dr.厄运传来了好消息。一个健康的婴儿！！！！！
但是怎么了？为什么我的第一个孩子有1:10000的机会，而这个孩子有1:300的机会？That's quite a difference.
Do you know what she told me?That over 90% of positive screening tests are false positives.百分之九十！And then,the majority of the 10% that aren't false positives could be positive for any number of factors,and likely not even actually positive for what they are testing for.But OVER 90% are just literal testing errors.真的吗？？？？？Do you know what my last three weeks were just like????How can this be good medicine,在孕妇身上使用明显有缺陷的测试？It's not as if we don't have a better option now.我是说，我知道他们以前都没有超声波，但是现在我们有了一个更好的“魔法”筛选测试，他们很少使用它。为什么？
At my next routine appointment,在我稍微崩溃之后（好的，好的，不是轻微的）和我的医生，I asked her just that question.NIPT，which has been studied and even reported by the新英格兰医学杂志to be much more conclusive,具有较高的灵敏度和预测价值，假阳性率要低得多，you guessed it…very expensive.Figures,but you've got to be kidding me.You know what else is expensive?Psychotherapy!
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In all seriousness,I hope that we are close to the end of the use of standard prenatal screenings,而且，对于所有选择进行基因检测的孕妇来说，NIPTS很快就会被使用。With the massive false positive rate of standard screenings,还有更好的选择，它给家庭带来的压力是不必要的。I know that if we decide to add to our family (relax,每个人，we haven't made any decisions yet),I know that I will fight for a NIPT.
我现在只能说，though,is please,if you have a standard screening and it comes back positive,try not to lose your mind.是啊，right.I know.
