Everything Every Pregnant Woman Should Know With The Expert Of All Experts!

实际的风险概率其实和你的年龄有关。

The actual likelihood is based on how old you are.

比如，40岁的女性生出唐氏宝宝的风险本来就更高，这种情况下无创检测呈阳性，真正是阳性的情况就多得多；而20岁的女性本身风险低，同样的阳性结果反而更可能是假阳性。

So a screen in a 40 year old woman who has a higher chance to have a child, for example, with Down syndrome, that test is much more likely to be a true positive than someone who may be 20 whose background chance for having a child with Down syndrome is lower than somebody who's forties.

无创DNA检测是个不错的选择，但每个人也都应该被告知可以做诊断性检查。

So NIPT is a great option or cell free DNA is a great option, but everybody should also be offered the option to do a diagnostic test.

比如羊水穿刺或绒毛取样，如果你愿意，就能全面了解胎儿的所有染色体情况。

So an amniocentesis or a CVS to learn about all of the chromosomes if they choose to.

这就又回到最初的问题了：你到底想了解哪些信息？

So that comes back to the first question which is what information would you like to have?

不是问花多少钱，而是你愿意在这件事上走多远？

And how Not at what cost, but how far do you wanna go to pursue that?

你愿意做诊断性检查吗？

Would you be willing to do a diagnostic test?

羊水穿刺和绒毛取样，由我这样有经验的医生来做，安全性非常高，但任何操作做多了，都可能存在风险。

And amnio and CVS and experienced hands like mine is incredibly safe, but you do enough procedures enough times, there may be complications.

如果你还没遇到过并发症，那说明你做的手术还不够多。

And if you haven't had a complication yet, then you haven't done enough procedures.

有些人无法接受诊断性检查带来千分之一甚至五百分之一的流产风险。

And so some people aren't willing to accept that one in five hundred or one in one thousand risk of loss from a diagnostic procedure.

所以他们可能会说，我更愿意先做筛查，尽可能获取更多信息。

So they might say, I'd prefer to get as much information and a screening test that's possible.

然后再根据这些信息做决定。

And then make some decisions after that.

如果你发现，做完检测后孩子患唐氏综合征的概率是四万分之一，而你觉得这个风险还是太高，那很好。

If you said, well, my risk of having a child with Down syndrome after I do this test is one in forty thousand and that chance isn't low enough for me, great.

还有更多进一步的检查可以选择，但每个人都应该有权决定是否要做这些检查。

Then there's additional tests that are available, but everyone should have the option to choose whether or not they wanna do it.

在怀孕早期，比如九到十周的时候，你可以做无创DNA检测或NIPT。

And if you're choosing different tests, there's so in the early first or mid first trimester, so nine, ten weeks, you can do the cell free DNA or NIPT.

这项检查在孕期的任何阶段都可以做。

You can do that at any point in time in your pregnancy.

所以根本没有年龄限制。

So there's no cutoff.

就算到了二十周，也不会错过机会。

You don't miss it if you're twenty weeks.

我不太明白为什么有人会选择别的检测，但你确实可以。

If if you know, I'm not sure why someone would choose to do a different test, but you can.

大多数检测项目都由保险覆盖。

Most of them are covered by insurance.

如果不在保险范围内，自费价格也还算合理，可以直接付给检测公司完成检测。

And if not, they're fairly there's a fairly reasonable out of pocket cost that you can pay direct to the company to have that test done.

有时候他们会上门服务。

Sometimes they'll come out to your house to do it.

有时候你也可以在医生诊所直接做。

Sometimes you can have it done in your doctor's office.

但如果你想要筛查信息，无创DNA检测是最理想的选择。

But I think if you wanted screening information, NIPT would be the best way to go.

如果你想要百分之百的信息，希望尽可能多了解情况，并且愿意承担并发症的风险，那我会选择做这个手术。

If you wanted 100, you know, here's I want as much information as I can get and I'm willing to take the risk of a complication, then I would do a procedure.

是的。

Yeah.

很多人在聊这些话题时会很不安，因为他们觉得你问这些信息，是默认要在终止妊娠和继续怀孕之间二选一。

People get really uncomfortable in those conversations because they think that you're looking you're asking for the information because they think it's an automatic choice between terminating a pregnancy and not.

但很多时候，你只是想提前了解情况，好为将来可能面临的经济负担、医疗需求或支持系统做好准备。

But a lot of the time, if you're choosing to just get the information to have the ability to set yourself up financially for what you may be facing down the line or the care that you might need, the support system.

具体怎么安排，可能会根据检测结果有所不同。

It may be different depending on what those tests uncover.

所以，我真希望人们对获取这些信息的偏见能早点消失，但这又是另一个话题了。

And so the stigma of wanting that information, I really wish would go away, but that's so for a whole another another conversation.

真的吗。

Wow.

太惊人了。

Wow.

天啊。

Wow.

让我就说一句。

Let me just

夏天真的特别乱。

say, summer can be chaotic.

夏令营、活动、旅行，还得兼顾工作，全堆一块儿了。

The camps, the activities, the travel, the still juggling work doing it all at the same time.

Skylight 日历真是救了我们一命。

Skylight calendar has literally jumped in and saved our lives.

Skylight 日历的设计初衷，就是让家人有更多时间在一起。

Skylight calendar is designed to bring families together for more time.

这个一体化的智能日历能和 Google 日历、Apple 日历、Outlook 等无缝同步，支持自定义日、周、月视图。

This all in one digital smart calendar syncs seamlessly with Google Calendar, Apple Calendar, Outlook, and more giving you customizable views for daily, weekly, or monthly planning.

任务功能能帮助孩子建立健康的习惯，培养独立性。

The tasks feature helps kids build healthy relationships and independence.

刷牙、做作业和做家务都变得有趣又有成就感。

Brushing teeth, homework, and chores become fun and rewarding.

你可以轻松管理日程、家务和购物清单，还能为每位家庭成员设置不同颜色，再也不用找借口说不知道该做什么。

You'll be able to manage events, chores, and grocery lists while assigning colors for each of your family members and eliminating excuses of not knowing what they needed to do.

你的开心，就是Skylight的开心。

Your happiness is Skylight's happiness.

如果四个月后你对购买的产品不满意，完全可以退货，全额退款。

So if in four months, not you're a 100% thrilled with your purchase, you can return it for a full refund.

无需任何理由。

No questions asked.

家庭成员齐心协力，家庭才会更美好。

Families are better when they're working together.

现在，通过访问 myskylight.com/babygang，Skylight 为我们的听众提供15英寸日历立减30美元的优惠。

Right now, Skylight is offering our listeners $30 off their 15 inch calendars by going to myskylight.com/babygang.

访问 myskylight.com/babygang，即可享受15英寸日历立减30美元。

Go to myskylight.com/babygang for $30 off your 15 inch calendar.

就是 myskylight.com/babygang。

That's myskylight.com/babygang.

如果你正在减肥，你不是一个人在战斗。

If you are trying to lose weight, you are not alone.

试试 HERS 的减肥方案。

Enter weight loss by HERS.

它专为帮助你达成目标而设计，HERS 现在提供价格实惠的 FDA 批准 GLP-1 药物，包括 Wegovy 口服片和 Wegovy 注射笔。

It's designed to support you in reaching your goals, and HERS now offers access to an affordable range of FDA approved GLP-one medications, including the Wegovy pill and the Wegovy pen.

在 HERS 使用 Wegovy，配合饮食和运动，最多可减掉 20% 以上的体重。

With Wegovy at HERS, lose up to 20% or more of your body weight when combined with diet and exercise.

它能帮你控制食欲，减少进食，长期维持体重。

It helps you regulate your appetite, eat less, and keep weight off.

而且 Wegovy 是首款用于减肥的 GLP-1 口服药，完全不用打针。

Plus Wegovy is the first ever GLP-one pill for weight loss, so there are no needles needed.

所有服务都通过 HERS 在线完成。

Everything is 100% online through HERS.

你会联系到一位持证医生，由他们判断这种治疗是否适合你。

You'll connect with a licensed provider who will determine if treatment is right for you.

如果开药，药品会直接送到你家门口。

If prescribed, your medication is delivered right to your door.

不需要保险。

No insurance necessary.

这还没完。

And it doesn't stop there.

HERS 的减重计划不止于药物，还提供与护理团队的24/7在线沟通，以及大量App内的生活方式和营养建议，比如食谱、饮食计划、健身视频、睡眠内容等等。

Weight Loss by HERS goes beyond medication by offering access to 20 fourseven messaging with your care team and tons of in app lifestyle and nutrition tips like recipes, meal plans, fitness videos, sleep content, and more.

这才是真正的支持。

That's support.

准备好实现你的目标了吗？

Ready to reach your goals?

前往 forhers.com/babygang，获取量身定制、负担得起的贴心服务。

Visit forhers.com/babygang to get personalized affordable care that gets you.

就是 forhers.com/babygang。

That's forhers.com/babygang.

forhers.com/babygang。

Forhers.com/babygang.

HERS 的减重服务并非在全美五十个州都可用。

Weight loss by HERS is not available in all 50 states.

Wegovy 是诺和诺德公司的注册商标。

Wegovy is the registered trademark of Novo Nordisk AS.

如需开始使用或了解更多信息，包括重要的安全提示、Wegovy 的临床研究数据和使用限制，请访问 forhers.com。

To get started and learn more, including important safety information, Wegovy clinical study information and restrictions, visit forhers.com.

那你推荐吗？哦，好的。

Now, do you recommend oh, okay.

所以这就是孕早期，还有那些常见的事儿。

So that's that's the first trimester and all that fun stuff.

我知道在正常怀孕过程中，一般到二十周会做一次胎儿结构筛查。

And I do know in the typical pregnancy, there's a twenty week anatomy scan.

那在正常怀孕过程中，接下来的步骤是不是她所说的那样？

Is that what she would say is the next step in a normal pregnancy?

是的。

So yes.

我得把话说得更准确一点。

So I'm gonna dial that back.

二十周的B超确实非常重要，但咱们还是先回到孕早期。

The twenty week ultrasound is absolutely important, but let's go back to the first trimester.

很多人来检查时，会做第一次孕早期B超，确认怀孕大约八周。

So people come in and they get their entry to pregnancy ultrasound that confirms they're eight weeks along.

很好。

Wonderful.

很多人以为，

Many of them think, okay.

那我就要等到二十周才能再做一次B超了。

I don't get another ultrasound until I'm twenty weeks.

这里还有一个机会，你可以主动要求做一次早期妊娠超声检查，通常在怀孕11到13周之间进行。

And here's another opportunity for you to advocate for yourself which is to request a first trimester ultrasound which is typically done somewhere between eleven and thirteen weeks.

那为什么这很重要呢？

And why is that important?

因为这次超声检查可以帮助发现可能影响妊娠正常发展的结构异常或潜在问题。

It's important because that ultrasound can also provide an opportunity to look for or screen for any potential structural differences or abnormalities that might result in a pregnancy that may not progress the way that you expect it to.

在12周的超声检查中，我们可以观察胎儿的头骨。

So at that twelve week ultrasound, we can look for the skull.

我们可以检查是否存在颅骨缺损或无脑儿，这类情况是致命的，因为没有头骨和大脑，胎儿根本无法存活。

We can look to see if there's something called a crania or anencephaly, which is life limiting or lethal because you can't survive without your skull and your brain.

我们还能检查心脏是否在胸腔内。

We can screen for things like is the heart inside the chest?

对。

Mhmm.

有一种叫五联征的情况，心脏可能会出现在胸腔外面。

The heart can actually be outside the chest in a condition that's called pentalogy of contral.

这非常复杂。

That's very very complicated.

我们可以检查前腹壁。

We can look at the anterior abdominal wall.

脐带是不是正插入肚脐中央？

Does the umbilical cord insert into the middle of the belly button?

我们在排查前腹壁的缺陷。

We're looking for anterior abdominal wall defects.

有些情况的严重程度可能危及生命。

Some of those can also be life limiting depending on the severity.

有没有两只胳膊和两条腿？

Are there two arms and two legs?

有没有肢体异常？

Do we have a limb anomaly?

脐带里的血管数量是否正常？

Are the correct number of blood vessels in the umbilical cord present?

有些情况在孕期并不会对胎儿的生命构成重大影响。

So some of these things are not life changing or life limiting from a pregnancy.

但提前在十二周就掌握这些信息，能让我们有更多时间做准备，而不是等到二十周才发现。

But having that information at twelve weeks also gives you time to prepare as opposed to waiting for some of these things at twenty weeks.

在二十周的检查中，有没有哪些问题是第一孕期的超声波看不到的？

Is there anything that they're seeing at twenty weeks that they wouldn't have seen in this first trimester ultrasound?

二十周的超声检查其实分两种，属于结构筛查的一部分。

So the twenty week ultrasound is a there's two types of ultrasounds that are done at the anatomy scan.

一种是基础或标准超声，我们会按清单逐项检查关键部位。

One is called a basic or standard ultrasound that looks at we have a checklist of things that we need to see.

另一种是详细或全面超声，顾名思义，就是更细致的检查。

And then there's a detailed or a comprehensive ultrasound that's just exactly what it sounds like.

这种检查会采集更多图像，帮助我们更早发现潜在异常。

It's a much more comprehensive scan that's looking at more images to help us identify if there are the potential for problems.

比如在详细超声中，我们会仔细检查口腔顶部，判断是否存在唇腭裂。

So for example, on a detailed ultrasound we look at the palate to see if there could be a cleft palate.

在基础超声检查中，我们不会检查腭部。

We don't look at the palate on the the basic ultrasound.

对。

Mhmm.

做基础超声时，我们主要看手臂和腿是不是都正常长出来了。

When we look on the basic ultrasound, we look to see our arms and legs present.

有没有两只脚？

Are there two feet?

有的。

Yes.

我们不会通过基础超声判断脚的姿势，比如有没有马蹄内翻足。

We don't look at the way that the foot is positioned to say, oh, there's a club foot.

对。

Mhmm.

有些宝宝出生后，人们经常会问：这怎么没提前发现呢？

So some babies are born and people often ask like, well, how did that get missed?

不是没发现，而是这些项目本来就不在常规超声检查的范围内。

And not so much that it was missed, it was it it wasn't evaluated because those things aren't looked at on a standard ultrasound.

所以二十周的超声检查是对胎儿各器官系统的全面评估。

So the twenty week ultrasound is a comprehensive ultrasound of organ systems.

还会检查胎盘的情况。

It also looks at the placenta.

也会观察你的卵巢。

It looks at your ovaries.

还会查看你的宫颈。

It looks at your cervix.

但十二周的超声也能提供很多关键信息。

But there's major information that we can get from a twelve week ultrasound.

我们还能查看后颈部的一个区域，叫做颈项透明层。

We can also look at a space behind the back of the neck called the nuchal translucency.

如果颈项透明层增厚，不仅可能是染色体异常的信号，也可能是先天性心脏病的征兆，而这是胎儿最常见的出生缺陷。

The nuchal translucency when it's increased is also a marker for chromosome abnormalities, but it's also a marker for congenital heart disease, which is the most common sort of birth defect in a developing baby.

所以它能提供一些信息，帮助我们调整对孕妇的护理方案。

So it gives us information that might allow us to change the care of a pregnant person.

因此，你可能不需要做基础超声，而是需要做更详细的检查。

So instead of having a basic ultrasound, you might have a detailed ultrasound.

如果你之前说，你不想做任何染色体异常筛查的话。

If you said, I I wasn't interested in doing any genetic aneuploidy screening.

但现在出现了一个迹象，提示风险可能略高了一些。

But now there's a marker that suggests there might be a slightly higher chance.

这时候我们就可以坐下来聊聊，说说我的担忧是什么。

That's a conversation that we can have and counsel about here are my concerns.

我们可以讨论一下，有哪些不同的应对方式。

Here are different ways that we can manage this.

你觉得接下来做些检查，会怎么想？

You know, how would you feel about, you know, next steps in terms of doing some testing?

你对获取这些信息感兴趣吗？

Would you be interested in this information?

这个信息会不会改变你之前对是否要做检查的想法？

Does this information change, you know, your previous thoughts on whether or not you wanted to do testing or not?

再说一遍，这不一定是出于终止妊娠的考虑，但我要不要转诊给产科高危专科医生？

And again, not for necessarily for purposes of ending or interrupting a pregnancy, but do I need to be referred to a specialist, like a maternal fetal medicine specialist?

我需要找儿科外科医生、儿科神经科医生，或者儿科心脏科医生吗？

Do I need to see a pediatric surgeon, a pediatric neurologist, a pediatric cardiologist?

我即将分娩的这家小医院没有新生儿重症监护室，这里真的适合我吗？

Is this small hospital where I'm gonna deliver that does not have a NICU the correct place for me to get my care?

我是不是该去专门的胎儿诊疗中心？

Do I need to go to a fetal care center?

我是不是得去有24小时常驻新生儿科医生的三级或四级医院生产？

Do I need to deliver at a level three or level four hospital that has neonatologists on staff twenty four seven?

这些因素都会影响你的分娩安排，也会影响宝宝出生后最初的几分钟、几小时、几周的状况。

And so those things can impact your birth, can impact your the the first moments, hours, minutes, weeks of your baby's life.

你得确保选择的分娩医院能提供所有必要的服务，让宝宝获得最好的生存机会。

You wanna make sure that you're delivering at a place that has all of the services that are available to give your baby the best chance possible.

现在你的产科医生能做详细的超声检查，比如颈项透明层扫描吗？还是必须找专科医生？

Now is your OB GYN able to do the detailed ultrasound, the nuchal translucency, or is that always gonna be a specialist?

有些产科诊所是提供这项服务的。

So some OB practices will offer that.

遇到医生说‘我们二十周再见’的时候，不妨主动问一问，比如我听说可以在十二周做一次超声，专门检查胎儿的各个部位，你们这里能做吗？

I think it's always a great conversation starter of asking and again advocating when someone says, okay, you know, we'll see you again at twenty weeks to say, you know, I'd like I've heard that I can have this twelve week ultrasound that will look at these parts to the baby.

你们诊所能做这个检查吗？

Is that something that you do in the practice?

如果不能，你们能推荐一位做这项检查的专科医生吗？

If not, can you refer me to a specialist who does offer those services?

到了十六周复诊，医生说‘很好，二十周来做超声’的时候，也是一样。

Same thing when you come in for your sixteen week visit and they say, great.

他们说二十周做超声检查。

We'll see you at twenty weeks for your ultrasound.

我听说有个结构筛查超声。

I've heard about the anatomy ultrasound.

我知道胎儿结构超声有好几种类型。

I understand that there are different types of anatomy ultrasounds.

那我这次预约的是哪一种结构超声呢？

What type of anatomy ultrasound am I being scheduled for?

根据我目前的孕期情况，这种超声是不是最合适的选择？

And is that the correct type of ultrasound I should have given my, you know, my pregnancy concerns?

对。

Mhmm.

再往深了说，很多人听到宝宝没事就放心了。

And then take it a step further because most people here are like, oh, the baby's okay.

你可能觉得，太好了。

You know, and you're thinking great.

这下没问题了。

I'm all set.

是吧。

Right.

怀孕到一半的时候，我们打算去买一堆东西。

Halfway through my pregnancy, we're gonna go buy a bunch of stuff.

你知道当时检查了哪些器官结构吗？

Do you have any idea what anatomy was looked at?

就是那种基础的超声检查，对吧。

You know, a basic ultra right.

关于先天性心脏病，让我先退一步说清楚。

So congenital heart disease so let me I'll take that a step back.

百分之三到五的新生儿都会出生时带有先天缺陷。

Three to five percent of all babies are born with a birth defect.

百分之三到五。

Three to five percent.

通常那些没有家族遗传史、孕期一切规范、却在结构筛查时突然发现异常的准父母，都会感到措手不及。

Usually to people who have no family history of birth defects, who did everything right in preparing for pregnancy, and were taken by surprise at their anatomy scan with with the finding of a structural concern.

在这百分之三到五的案例中，心脏缺陷最常见，占比在百分之零点五到百分之一之间。

Of that three to five percent, heart defects are the most common at a half a percent to one percent.

所以每一百到二百个婴儿中就有一个。

So one in one hundred to one in two hundred.

常规超声检查会看四腔心切面，以及左右两个流出道。

A basic ultrasound looks at the four chamber view and then looks at the two outflow tracts, the right and left outflow tract.

如果技术条件允许，通常建议检查所谓的三血管切面和三血管气管切面。

If technically feasible, they say you should look at something called the three vessel view and three vessel trachea view.

我觉得每个宝宝都该做这些检查。

I think every baby should have those looked at.

三血管气管切面是我最看重的切面。

The three vessel trachea view is my favorite view.

这个切面能提供大量信息，光靠它我就能排除很多问题，而这些在普通超声里根本不会做，或者只在技术允许时才做。

It gives me so much information, and I can rule out so many things just from that view that is not done on a standard ultrasound or is only done if it's technically feasible.

所以当别人告诉你一切正常时，你根本不知道到底检查了哪些项目。

And so when you hear everything is right, you have no idea what has been evaluated.

美国超声医学学会会对不同医疗机构进行认证。

The American Institute of Ultrasound Medicine offers an accreditation for different practices.

这确实挺费工夫的，但如果你选择一家获得AIUM认证的机构，他们必须按照标准流程检查所有项目，你就不用担心遗漏。

It's a lot of work, but you can know that if you go to a practice that's AIU accredited, there is a standard list of all the things that they are supposed to see.

你的报告上会明确写明：各项都看得清楚。

And you'll get your report that says we saw it well.

有的可能看到了，但效果不够理想，或者根本没看到。

It was seen but it was sub optimally seen or we didn't see it.

这样做完超声后，你就能问清楚：该检查的项目，他们全查了吗？

And then that gives you an opportunity after you have your ultrasound to say, did you see everything that you needed to?

有没有发现结构上的异常？或者有没有软指标？

Were there any structural concerns, or are there soft markers?

软指标通常是一些看似正常但略有不同的表现。

Soft markers are we call normal often normal variants.

这些细微的发现可能和染色体问题有关，但一般不意味着有结构性缺陷，当然也有例外。

They're subtle findings that can be associated with genetic or chromosome issues that don't usually often represent a structural problem, but not always.

正因为这些软指标可能提示染色体异常，如果你还没做过非整倍体筛查，比如NIPT，这正是个很好的时机，可以和医生聊聊要不要做这项检查。

And again, because they can be associated with chromosome abnormalities, if you haven't had any aneuploidy testing, if you haven't done NIPT, it's a great opportunity to have a conversation about whether or not you wanna do NIPT.

这同时也是进行更详细超声检查的指征。

And it's also an indication for a more detailed ultrasound.

详细的超声检查通常不在产科诊室做。

The detailed ultrasounds are not often done at OB offices.

这些检查一般由母胎医学专科的诊室来完成。

Those are often done at Maternal Fetal Medicine offices.

这是因为产科的超声技师可能缺乏获取这些详细图像的经验。

And that's usually because the OB ultrasonographers, the sonographers may not have the experience to be able to obtain those detailed views.

很多产科医生在住院医师培训期间接受的超声训练非常有限，很难自信地解读超声结果。

And many OBGYNs receive very, very little ultrasound training in their residency to feel comfortable to be able to read an ultrasound.

我知道不少产科同行都会依赖经验丰富的超声技师帮忙判断结果是否正常，有时还会发消息问我：‘你来看看这个行吗？’

I know many of my OB friends will rely on their seasoned sonographers to help discern if something is right or wrong or call and send me a text message saying, Hey, can you look at this?

这个心脏看起来正常吗？

Is this heart look normal?

但你并不知道这些幕后沟通正在发生。

And you don't know that's happening behind the scenes.

所以你要为自己争取。

So advocate for yourself.

谁在看我的超声波报告？

Who's reading my ultrasound?

他们拍了哪些角度的图像？

What views are being obtained?

我该怎么拿到这些信息？

How am I gonna get this information?

我还需要再回来吗？

Will I come back?

谁会把结果告诉我？

Who's gonna communicate the results to me?

如果这次的超声检查不适合我，那谁来给我做真正需要的检查？

And if this is not the appropriate ultrasound for me, who's gonna do the ultrasound that I need?

天哪。

Wow.

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事情太多了，但后来我做了更多关于眼下遮瑕膏的研究，我觉得我可以说出很多女性的心声，而不是只谈孕期或产后，这个词到底是叫什么？

It's so much, but then you think about it as I've done more research on, like, under eye concealer, and I think I can speak for a lot of women than I have on prenatal or natal is that what it's is that the term?

是的。

Yeah.

产前。

Antiparta.

对。

Right.

怀孕期间。

During pregnancy.

对，没错。

Right Yeah.

产前也是。

Before Yeah.

没关系。

It's fine.

但我不好意思这么说，不过你之所以上这个播客，就是因为这种事。

But that's just I'm embarrassed to admit that, but this is why you're you're on the podcast.

如果你正在做试管婴儿，而且胚胎已经做过PGT检测，显示是‘正常’的，你会推荐用这个吗？

Would you recommend this for somebody who's going through IVF who has a PGT tested, quote, normal embryo?

会的。

Yes.

PGT-A，也就是植入前遗传学检测，那个A代表非整倍体，它可以检测很多种情况，属于一种筛查手段。

So PGT A, right, pre implantation genetic testing, the a stands for aneuploidy, can be done for a lot of different things, is a screening test.

PGT-A检测的是将来形成胎盘的细胞。

PGTA is sampling the cells that become the placenta.

它并不检测将来形成胎儿或宝宝的细胞。

It's not sampling the cells that become the fetus or the baby.

对。

Right.

大多数情况下，胎盘和胎儿的基因是一致的，但也不是总这样。

Most of the time the genetics of the placenta and the baby match, but not always.

有一种情况叫胎盘局限性嵌合体。

There's something called confined placental mosaicism.

对吧？

Right?

嵌合体就像马赛克，由不同类型的细胞组成。

Mosaics are tiles, so they're made of different sorts of things.

所以胎盘的遗传信息并不总是和胎儿一致。

And so the genetics of a placenta don't always match the genetics of a baby.

因为PGT-A只是筛查，我们无法检测到这种情况。

And because PGTA is a screening test, we are test blind to that.

我很高兴大家都会做PGT-A。

I am so glad people do PGTA.

通常它能帮助人们怀上更健康的宝宝，比起移植可能不正常的胚胎，成功率高得多。

Usually helps them to be able to you know, have a healthy baby when compared to transferring you know, an embryo that may not have been genetically normal.

但你还是应该做无创产前检测。

But you should still be offered NIPT.

这可不是‘不’的意思

That is not No,

很多人觉得，哎呀，我不需要做这个。

many people think, oh I don't need to do that.

没错，我们确实检测不到这种情况。

Yes, we are test blind.

明白。

Mhmm.

它能帮上忙，我依然会建议你做。

It's great that it's there, I'm still gonna offer it to you.

对。

Yeah.

如果你做了试管婴儿，这确实是组建和扩大家庭的绝佳方式。

If you had So IVF, again, wonderful way to build and grow families.

试管婴儿的过程并不会增加胎儿染色体异常的风险。

The process of IVF doesn't increase your chances of having a baby with a chromosome abnormality.

所以你做了无创产前检测，但也别忘了做一次详细的超声检查。

So you do your NIPT, but you should also have a detailed ultrasound.

有一些研究指出，通过试管婴儿技术怀孕，胎儿出现结构异常的风险会略微升高。

There are some studies suggesting a slightly higher chance for structural abnormalities with IVF.

我们还发现，妊娠期高血压的问题更常见，比如子痫前期。

And we see higher rates of high blood pressure problems, so preeclampsia.

胎儿生长受限的情况也更多，宝宝通常偏小。

We see higher rates of fetal growth restrictions, so smaller babies.

不幸的是，死胎的风险也会更高一些。

And unfortunately, we also see a higher risk of stillbirth, or a higher chance for stillbirth.

因此，除了无创检测和20周的大排畸超声，中期和晚期还需要做几次生长监测超声。

So outside of just NIPT and a twenty week ultrasound, growth ultrasounds in the mid trimester, third trimester.

大多数胎儿的体重都是在孕晚期才快速增加的。

Most babies put most of their weight on in the third trimester.

所以即使你用卷尺量了，觉得‘哦，现在28周，尺寸还挺正常’——

So even if you're using the tape measure and trying to figure out, oh yeah, I'm twenty eight weeks and I'm measuring normally.

没错。

Right.

大多数医疗机构都会为试管婴儿妊娠提供孕晚期的生长超声检查，而且应该这么做。

Most practices would and should offer an IVF pregnancy, a third trimester growth ultrasound.

胎儿死亡的风险会随着孕周增加而上升。

And the risk of stillbirth, you know, increases as you get further along.

许多医院会在孕最后一个月开始提供每周的胎心监护。

And many practices will offer some weekly fetal monitoring that starts usually the last month of pregnancy.

出于谨慎考虑，即使你感觉胎动正常、宝宝发育良好，这仍然是一个无法忽视的独立风险因素。

Again, out of an abundance of caution, even if you're feeling the baby move and the baby's growing normally, it's still an independent risk factor that we cannot strip away.

你为了怀上这个孩子付出了这么多努力，是的。

And so you've worked very hard Yeah.

我们希望你的宝宝健康平安地出生。

To have your baby.

我们希望你的宝宝活着，健健康康地来到我们这边。

We want your baby alive and on our side.

就是再做一些监测，确保一切正常。

It's a little bit of some monitoring that's done again to make sure everything is okay.

这也是给我们一个机会，确认一切进展良好。

And it's just a check-in point for us to say, this is looking good.

我们可以继续安心等待了。

We're okay to keep going.

对。

Right.

为什么IVF的死胎风险会更高呢？

Why is the why are the chances of stillbirth higher?

大家知道原因吗？

Do they know with IVF?

我们也不清楚。

We don't.

真的不知道。

We don't know.

这跟结构上的问题有点类似。

We it's kind of similar to structural concerns.

是个人本身在生育能力上本来就存在困难吗？

Is it something about an individual inherently who may struggle with fertile infertility?

还是试管婴儿技术本身的问题？

Is it something about the IVF procedure itself?

我们其实也不太清楚。

We So just don't interesting.

明白了。

Okay.

我们刚才聊了点出生缺陷，也谈了很多关于这里的好消息。

So we've talked a little bit about birth defects and a lot about, you know, really sunny times over here.

我知道。

I know.

开玩笑的。

Kidding.

是的。

Yeah.

你就会想，对啊，来跟我聊聊吧。

You're like, yeah, come talk to me.

好好享受吧。

Have a load of fun.

在这个时代，人们对堕胎、谁有决定权、为什么需要堕胎，都持有非常强烈的观点。

So in this really interesting time of people being really opinionated on termination and who gets to decide and why it would be necessary.

我知道，很多人的想法很天真，他们根本不知道，有些出生缺陷会危及孕妇的生命，也会让胎儿无法存活，根本不可能出生后还能活几天。

You know, I think in this conversation that I have with a lot of people who are just naive and they don't know that there are actually birth defects that can be fatal to the person carrying the baby and who also can be fatal to the baby, make it actually impossible for the baby to live outside of the uterus to be born and maybe survive a couple days.

我只是想谈谈这个，因为我实在厌倦了这种对现实的无知——这从来就不是什么阳光灿烂、花团锦簇的事。

I guess I just wanna get into that because I'm I'm kind of sick of the, you know, ignorance around the reality that it's not always sunshine and daisies.

没错。

No.

我们可没向你保证过生活会一帆风顺。

We didn't promise you a rose garden.

对吧？

Right?

这才是真正特别艰难的地方。

And that's what's really, really hard.

对吧？

Right?

你经历了一整段旅程，这段体验，就像一次徒步。

You go through this whole journey, this experience, this hike.

一次徒步。

This hike.

然后你

And you

以为终点就是你的回报。

think, right, the end is my prize.

但事实并不总是这样。

And that that's not always the case.

并不是每个家庭都能把活着的孩子带回家。

Not every person gets to take home a baby who's alive.

我之前提到过几种危及生命的情况，比如无脑儿和左心发育不全。

And so there are a number of life limiting conditions I mentioned earlier, there's a crania or anencephaly and hypoplastic left heart.

这又是另一种情况。

So it's another condition.

这是一种心脏方面的疾病。

That's a heart condition.

如果不做手术干预，这种病通常需要分三个阶段进行手术。

Unless a surgical intervention is performed, there's three stages of that surgery.

这种病也往往伴随着极短的寿命。

That's also associated with a very shortened lifespan.

你的肾脏是必不可少的。

You need your kidneys.

肾脏负责生成羊水。

Kidneys make amniotic fluid.

它们过滤我们的血液。

They filter our blood.

有些婴儿出生时没有肾脏，这叫肾缺如，同样致命。

Sometimes babies are born with missing kidneys called renal agenesis, which is also lethal.

还有一种肾脏疾病叫多囊性发育不良肾，肾脏没能接收到正常发育的信号，看起来像一串葡萄。

There's another kidney condition called multicystic dysplastic kidney where the kidneys don't get the instructions to develop correctly and they look like a cluster of grapes.

这些全是充满液体的囊肿，如果是双侧的，胎儿就完全不产生尿液。

They're just these fluid filled cysts and the baby doesn't produce any urine if you have bilateral.

也就是说，双侧都是多囊性发育不良肾。

So both multicystic dysplastic kidneys.

骨骼发育不良，有时是FGFR3基因发生突变，会导致严重的骨骼异常，同样致命。

Skeletal dysplasias, sometimes there's a gene called the FGFR three that gets, undergoes a mutation that can be associated with severe bone abnormalities which are also lethal.

目前还没有患有这种病的孩子能活下来。

There are no children who are living that have this condition.

还有一种病叫成骨不全症。

There's a condition called osteogenesis imperfecta.

还有一种叫肢体腹壁缺陷的状况，非常惨烈——胎儿的前半身黏在胎盘上，根本无法正常发育成健康的婴儿。

There's something called a limb body wall defect, which is just devastating, which is essentially the anterior part of the body is plastered against the placenta and just doesn't develop into a normal healthy baby.

还有一些情况，不管是代谢问题、遗传因素、结构异常还是感染，都可能导致胎儿出现水肿，也就是心脏、肺部周围积液，全身浮肿。

And then there are some conditions that whether it's due to metabolics, genetics, a structural concern, an infection, that can lead to something called hydrops, which is fluid accumulating around the heart, the lungs, body edema.

而水肿最让人担忧的是，它还可能引发一种叫‘镜像综合征’的并发症。

And what's really concerning about hydrops is that it can also cause something called mirror syndrome.

胎儿一旦出现水肿，情况就极其危重。

So, hydrops are very, very sick.

母亲的身体也会出现和胎儿一模一样的症状。

And moms can develop symptoms that mirror what's happening to their babies.

她们自己也可能变得非常非常危险。

And they can become very, very sick as well.

这些状况太过严重，哪怕有再先进的医疗手段，胎儿也根本无法在出生前或出生后存活。

So these are so severe that a baby can't survive either before birth or shortly after delivery, even with all of the amazing medical care that's available.

不让她们自主决定如何应对这种突如其来的、无法预防的、毁灭性的打击，反而强迫她们继续妊娠，这简直是一种残忍的惩罚——毕竟，她们的生命，不该比这个注定无法存活的胎儿更不值钱。

And it's just cruel and an unusual form of punishment to not allow someone to have that choice on how they want to manage something that's devastating and life altering that they didn't ask for, that they couldn't prevent, and then force them to have to carry a pregnancy because their life is not as valuable as the nonviable pregnancy that they're carrying.

所以，如果你在全面禁止堕胎的州，这些怀孕就得继续下去，所有人都面临风险？

So, if you were in a total ban state, these pregnancies are continuing at the risk of all involved?

或者

Or

是的。

Yes.

没错。

Right.

明白了。

Okay.

这类情况根本没有任何例外。

There's there there are no exceptions for these sorts of things.

天哪。

Wow.

一点例外都没有。

No exceptions.

这太让人痛心了。

It's devastating.

哇。

Wow.

是的。

Yes.

所以在这些情况下，我们得克萨斯州的情况甚至更严峻，因为你的朋友或邻居可能

So in those cases, in in our great state of Texas, it's a little even more challenging simply because your friend or neighbor can

举报你。

Tell on you.

举报你，打小报告，没错。

Tell on you, tattle on Yeah.

是的。

Yes.

所以我们还能转介一些资源，你知道的。

And so we can place referrals, you know?

我会告诉患者，在这种情况下，我们要全面讨论所有的怀孕选择，因为继续怀孕绝对是一个选项。

And I tell patients when faced in these situations, we talk about all of our pregnancy options because pregnancy continuation is absolutely an option.

终止妊娠也是一个选项。

So is pregnancy interruption.

但做出决定前，你必须充分了解所有可能发生的状况。

But it should be made after you're fully informed about all of the potential things that could happen.

这并不是想让你害怕，或者逼你做某种选择。

And that's not meant to instill fear or to you know coerce someone into doing something.

这只是现实——你可以选择继续怀孕，也可以选择终止，但在我们所处的这个州，你没法自己结束妊娠。

It's just the reality of of where we are, which is you can continue, you could choose to interrupt, you know, you can't end your pregnancy in the state we live in.

但我可以帮你转介，去寻求第二意见，让你能见到其他医生，接受咨询，全面讨论你的选择，最终做出最适合你的决定。

But I can make a referral for you to get a second opinion so that you could see someone and get receive the counseling and discuss your options so that you can make it the decision that's right for you.

真是个特殊的时期。

What a time.

是的。

Yes.

说到这个

On that note

说到这个

on that note,

我耽误你太久了。

I've kept you too long.

我觉得该给你报酬，因为你提供的信息，还有我们所有人收到的这些内容，真的特别有帮助。

I feel like I owe you for, you know, money for this because the the the information that I and everyone else, were receiving, it's really so informative.

信息量可能有点大，但我相信知识就是力量。

It can be overwhelming, but I believe information is power.

真的非常感谢你所做的这一切，尤其是在Instagram上帮助那些无法接触到像你这样的人。

And I really do thank you for doing all that you do, especially on Instagram for people who don't have access to someone like you.

如果还没找到你，大家该去哪里找你呢？

So where can people find you if they have not found you already?

最简单的方式就是去Instagram上找我。

Easiest place to go is just to find me on Instagram.

我在阿曼达·霍顿医生这里。

I'm at Amanda Horton MD.

可以给我发私信。

Can send me a DM.

我每条都会看。

I look at all of them.

我会回复，而且我在多个州都有执业资格。

I respond to them and I, you know, am licensed in many states.

如果我帮不上忙，我也可以帮你找到能帮上的人。

And if I can't help you, I can find somebody who can.

好的。

Okay.

非常感谢你今天来。

Thank you so much for being here.

医生。

Doctor.

谢谢您邀请我。

Thank you for having me.