智商可预测,未来试管婴儿将可选择“最聪明的”胚胎
2023-05-30「本文NT的测量按照英国胎儿医学基金会标准进行(超声医师需要经过严格的训练并进行质量控制)。
不同的孕周有不同的正常值超过第99百分位或NT超过2.5mm为异常。NT增厚的常见原因:感染,遗传学异常,结构畸形。需要进一步做相关检查。第二就是系统超声,也就是大家说的大排畸超声,全面排查胎儿有无结构畸形。
二是胎儿染色体非整倍体异常的孕中期(妊娠15-20周+ 6)母体血清学筛查:
通过检测母体血液中甲胎蛋白、雌三醇和游离β-hCG,结合孕妇年龄、体重、孕周计算胎儿患21三体综合征、18 三体综合征及开放性神经管畸形风险。注意事项:
空腹;超声检查确定孕周;确定抽血当天的体质量。目标疾病染色体病21三体,18三体和开放性神经管畸形。21三体就是唐氏儿,会有特殊面容,智力低下,生长迟缓,易患白血病等临床表现。
18三体症状比21三体更严重。生后大部分1年内就夭折了,这两种是最常见的染色体病,不能查其他染色体病。
神经管畸形仅能查开放性脊柱裂,隐性的查不出来。唐氏筛查对21三体的检出率70%,18三体85%,开放性神经管畸形85%。
无创DNA及适宜人群有哪些
无创DNA(non-invasive prenatal testing,NIPT):NIPT筛查的目标疾病为3种常见胎儿染色体非整倍体异常,即21三体综合征、18三体综合征、13三体综合征。
适宜孕周为12~22周+6。
具体参考2016年国家卫计委发布的《孕妇外周血胎儿游离DNA产前筛查与诊断技术规范》。
适宜于以下人群:
非整倍体(主要指21、13、18三体)产前筛查临界高危孕妇(21三体如风险率在1/270-1/1000,18三体1/350-1/1000),有介入性产前诊断禁忌症者(先兆流产、出血倾向、RH阴性血孕妇,乙肝、梅毒、艾滋病等感染性疾病)。不适用人群为:
①孕周12周;
②夫妇一方有明确的染色体异常;
③1年内接受过异体输血、移植手术、异体细胞治疗等;
④胎儿超声检查提示有结构异常须进行产前诊断;
⑤有单基因遗传病家族史或提示胎儿罹患单基因病高风险;
⑥孕期合并恶性肿瘤;
⑦医师认为有明显影响结果准确性的其他情形。NIPT检测结果为阳性,应进行介入性产前诊断。
耳聋基因筛查
2006年第二次全国残疾人抽样调查数据显示听力障碍在出生缺陷中占比34%。不少耳聋患儿父母听力是正常的,因为耳聋大部分是常染色体隐性遗传单基因病。父母一个基因突变为携带者,不会有症状,但孩子如果将父母的两个突变都遗传到了,就会出现耳聋。耳聋相关的基因120多种,咱们威海地区做的耳聋基因筛查只查了四个最常见基因,20位点。如果孕妇查出为携带者往往需要丈夫检查,如果双方都是携带,可以做产前诊断,预防生出耳聋儿。
哪些孕妇需要产前诊断
如果产前筛查结果异常,或有其他高危因素则需要产前诊断进行胎儿染色体核型分析。
1、年龄≥35岁(到预产期)。1/260
2、产前筛查发现胎儿染色体异常高风险。
3、夫妇一方染色体异常。
4、羊水过多或过少(深度20mm或羊水过多深度≥80mm)。
5、产前超声提示胎儿结构异常或有可疑畸形。
6、不良孕产史:2次以上自然流产、死胎、新生儿死亡史;畸胎或智力障碍儿分娩史;染色体异常儿生育史。
7、第二、三代试管婴儿。
8、双胎之一胎儿畸形或消失。
产前诊断常用技术有哪些
羊膜腔穿刺(简称羊穿),是目前最常用的一种产前诊断技术。
不管是需要进行染色体核型分析、染色体微阵列分析,单基因病测序,都可以通过羊膜腔穿刺抽取胎儿羊水以进行检测。针对不同的指征进行不同的检测项目。产前一般是到核型分析和基因芯片,少部分会查单基因病。另外产前诊断有局限性,我们筛查的仅是成百上千种出生缺陷的几种,不能所有的疾病都检查,有许多疾病是查不到的,尤其是功能性疾病,像脑瘫之类。
不少孕妇一提起羊穿就花容失色,担心会发生流产。其实羊膜腔穿刺操作过程简单、穿刺前不需麻醉、不需住院。常在B超监测下用一根很细的穿刺针穿过腹壁和子宫进入羊膜腔吸取少量羊水的以检测胎儿的相关检测。
羊水主要是胎儿的尿,抽取少量羊水对胎儿不会造成不良影响。穿刺的部位离胎儿很远,伤害到胎儿的机会很小。而且穿刺入宫腔后针芯很快就会拿出来,仅有塑料管在里面,这个是损伤不到胎儿的。少数情况下可能会出现阴道出血、羊水溢出或子宫收缩、感染等并发症。与羊膜腔穿刺术过程有关的自发性流产,约占0.3%至0.5%。
产前诊断能查什么疾病
1、染色体疾病;
2、基因组疾病;
3、单基因病不常规检测。
如果有一天,你可以选择生育一个小“爱因斯坦”,也可以生育一个智商普通的孩子,你会做出什么样的选择?据科学家预计,未来10年内,人类将可以使用试管婴儿技术选择“最聪明”的胚胎。
Genetics research, conceptual artwork. CHINA DAILY
Couples undergoing IVF treatment could be given the option to pick the “smartest” embryo within the next 10 years, a leading US scientist has predicted.
据美国一名权威科学家预计,未来10年之内,做试管婴儿的夫妇将能够选择“最聪明”的胚胎。
IVF:in vitro fertilization 体外受精联合胚胎移植技术,又称“试管婴儿”
Stephen Hsu, senior vice president for research at Michigan State University, said scientific advances mean it will soon be feasible to reliably rank embryos according to potential IQ, posing profound ethical questions for society about whether or not the technology should be adopted.
美国密歇根州立大学主管科研的副校长徐道辉(斯蒂芬·徐)说,科学进步意味着人类不久就能够对胚胎的潜在智商给出可靠的评分,这项技术是否应该使用将是一个深刻的社会伦理问题。
Hsu’s company, Genomic Prediction, already offers a test aimed at screening out embryos with abnormally low IQ to couples being treated at fertility clinics in the US.
徐道辉的基因组预测公司已经为在美国不孕不育诊所接受治疗的夫妇提供了一项检测服务,旨在筛查出智商异常低的胚胎。
“Accurate IQ predictors will be possible, if not the next five years, the next 10 years certainly,” Hsu told the Guardian. “I predict certain countries will adopt them.”
徐道辉对《卫报》记者说:“准确的智商预测是可能的,即使不是未来5年内,那么在未来10年内也肯定可以。我预计一些国家会采纳这项技术。”
The prospect of a new generation of genetically selected babies has prompted concerns about unintended medical consequences and the potential for deepening existing social inequalities. The science underpinning the claim that intelligence can be meaningfully predicted by genetic tests is also contentious.
新一代基因选择婴儿的前景引发了人们对于意外医疗后果和现有社会不平等可能加剧的担忧。基因检测能够有效预测智商的科学技术也引发了争议。
contentious [kn'tens]:adj.有异议的,引起争论的
Peter Donnelly, a professor of statistical science at the University of Oxford, said any such IQ predictions should be treated with “huge caution”, adding: “I have grave misgivings about it on ethical grounds. I think it’s a really bad idea.”
牛津大学统计学教授彼得·唐纳利说,应该“十分谨慎”地对待此类智商预测。他说:“出于伦理原因,我对此非常担忧。我认为这是一个非常糟糕的想法。”
Since the 1990s, couples undergoing IVF have been able to screen their embryos for mutations in single genes that cause serious diseases such as cystic fibrosis, as well as conditions like Down’s syndrome, caused by chromosome abnormalities.
自上世纪90年代以来,接受试管受精的夫妇已经能够对他们的胚胎进行筛选,以发现单个基因的突变,这些突变会导致严重的疾病,比如囊性纤维化,以及染色体异常导致的唐氏综合征等。
chromosome ['krmsm]:n.染色体

Many other traits, including height, physical appearance, intelligence and disease susceptibility, are known to be partly heritable. But because the genetic component is spread thinly over hundreds or even thousands of DNA regions, it has previously been impossible to screen for these traits.
许多其他特征,包括身高、外貌、智力和疾病易感性,都被认为是部分遗传的。但由于遗传组分稀疏地分散在数百甚至数千个DNA区域,以前不可能对这些特征进行筛选。
In the past decade, as vast genetic databases have been established, this picture has changed. Through analyzing many genes, each making a tiny contribution, it has been possible to calculate what are called polygenic risk scores, which give a person’s likelihood of getting a particular disease or having a certain trait.
在过去的十年里,随着大量基因数据库的建立,这种情况已经发生了改变。通过分析大量基因,每个基因都做出了微小的贡献,就有可能计算出所谓的多基因风险评分,即一个人患某种特定疾病或具有某种特征的可能性。
polygenic[,pli'denik]:adj.多基因的
Genomic Prediction is the first company to take embryo screening into this grey area of risk forecasting, offering to alert couples if an embryo has an “outlier” score for risk of cancers, diabetes, heart disease, dwarfism or low IQ.
基因组预测公司是第一家将胚胎筛查纳入风险预测这一灰色地带的公司。如果胚胎在癌症、糖尿病、心脏病、侏儒症或智商低下等风险方面的评分“异常”,它就会提醒做筛查的夫妇。
outlier ['atla]:n.(统计)异常值
Medical staff put clothes on the newborn test-tube baby at a hospital in Xi'an, Northwest China's Shaanxi province. [Photo/Xinhua]
Prediction for IQ is not good enough to give a reliable ranking, but Hsu said that knowing an embryo has a low score could still be desirable.
智商预测目前还不足以给出可靠的评分,但徐道辉表示,如果一个胚胎的智商评分较低,人们可能还是很想知道。
“Maybe the bottom 1% embryo will grow up to be a great person … even be a scientist, but the odds are against it,” he said. “I honestly feel if we can calculate that score and find a real negative outlier there’s an ethical responsibility for us to report that.”
徐道辉说:“也许评分最低的1%的胚胎长大后会成为一个优秀的人……甚至成为一名科学家,但这种可能性很小。我真的觉得,如果我们能计算出这个评分,发现它低得十分异常,那么我们就有道德责任予以告知。”
The company projects that once high-quality genetic and academic achievement data from a million individuals becomes available, expected to be within five to 10 years, it will be able to predict IQ to within about 10 points.
该公司预计,在5至10年内,一旦100万人的高质量基因和学术成就数据可用,它将能够预测智商,误差在10分以内。
Hsu is reticent about whether screening for high intelligence would be ethically justified, saying: “Let me just decline to answer that at the moment.”
徐道辉不愿评论高智商筛查是否符合伦理标准,说“目前我拒绝回答这个问题”。
reticent ['rets()nt]:adj.沉默的;有保留的
In some countries, such as Singapore, there is likely to be a high level of public acceptance and demand for such tests, he suggested. “I think the overwhelming majority would say yes, absolutely, parents should be allowed to do that,” he said. “Before you write your piece, you might just want to think that a billion people on the other side of the world might have a different view.”
徐道辉说,在一些国家,比如新加坡,公众对此类检测的接受度和需求可能会很高。他说:“我认为绝大多数人肯定会赞成允许父母这样做。在你写这篇报道之前,也许应该想想地球另外一端的10亿人可能有不同的看法。”
Whether such tests will become available in the UK would depend on approval from the Human Fertilization and Embryology Authority (HFEA).
这种检测方法能否在英国实施将取决于英国人工授精与胚胎学管理局的批准。
“If the HFEA decides that it’s not right for the UK, I will respect that,” Hsu said, but predicted that “rich people from the UK will fly to Singapore” if they are unable to get the tests locally.
他说:“如果英国人工授精与胚胎学管理局认为这对英国不合适,我会尊重这个决定。”但他预测,如果英国富人无法在当地进行这项检测,“他们会飞到新加坡去做的。”
Some in the UK take the view that prospective parents have a right to access such tests. “I don’t think people should be deprived of that knowledge,” said Prof Simon Fishel, the founder of Care Fertility.
在英国,一些人认为未来的父母有权进行此类检测。生育关怀组织的创始人西蒙费舍尔教授说:“我认为不应该剥夺人们的这种知情权。”
Fishel questioned whether there is any ethical difference between picking an embryo ranked highest for IQ or sending a child to a private school. “What’s wrong with ranking an embryo if you can rank a child?” he said. “I think there are plenty of people who’d choose embryo Oxford [rather] than embryo A-level failure.”
费舍尔质疑挑选智商最高的胚胎和送孩子去私立学校之间是否存在伦理上的差异。“如果你能给孩子评分,那给胚胎评分又有什么错呢?”他说。“我认为有很多人会选择未来能考取牛津的胚胎而不是无法通过英国中学高级水平考试的胚胎。”
In practice, though, couples often have only a few embryos to choose from. And there are concerns about unintended consequences. For instance, there is some evidence linking higher polygenic scores for academic ability to higher likelihood of autism.
但实际上,夫妇们通常只有几个胚胎可供选择。此外,人们还担心会出现意想不到的后果。例如,有证据表明,学术能力的多基因得分越高,患自闭症的可能性就越大。
The technology is controversial, but that does not mean it will not gain acceptance in the future, Hsu said, drawing parallels with the reaction to IVF in its early days.
徐道辉说,这项技术存在争议,但这并不意味着它在未来不会被接受,这与早期人们对体外受精的反应类似。
“The IVF pioneers … were called monsters, Frankenstein doctors; it was predicted that these babies would have health problems,” he said. “I am actually reassured by that. IVF is completely normalized now. Everyone who is pointing their finger at [Genomic Prediction] now should go back and read those articles.”
他说:“试管婴儿的先驱被称为怪物,弗兰肯斯坦医生。当时人们预测这些婴儿会有健康问题。实际上,我对此很放心。试管受精现在已经完全正常化。现在,所有指责(基因组预测)的人都应该回去读读那些文章。”
来源:卫报、参考消息网
翻译编辑:yaning
来源:中国日报网