我省公布近13年新生儿筛查报告，3200余个宝宝患先天代谢疾病 Published in our province nearly 13 years neonatal screening report,More than 3200 babies suffer from congenital metabolic disease

孕妈妈缺铁缺叶酸、甲状腺功能低下、基因异常，都会让宝宝智力受损 Pregnant mother iron deficiency lack of folic acid/Low thyroid function/Abnormal gene,Can let the baby intelligence damaged

想让宝宝聪明，别输在孕产期 Want to let the baby smart,Don't lose in pregnant period

　　昨天，浙江大学医学院附属儿童医院发布数据：浙江开展新生儿筛查13年来，共筛查了全省512多万名新生宝宝，筛查率达98.44%。筛查发现两类最多的先天性代谢疾病是甲状腺功能低下和苯丙酮尿症，累计发现3282位。其中甲状腺功能低下的患儿有3054位，苯丙酮尿症患儿有228位。

yesterday,Zhejiang university medical school affiliated children's hospital release data:Zhejiang carry out neonatal screening 13 years,Common screened the province more than 512 newborn babies,The screening rate reaches 98.44%.Screening found that two kinds of the most congenital metabolic disease is low thyroid function and phenylketonuria disorder,Accumulated found 3282.The low thyroid function of children have 3054,Propiophenone enuresis children have 228.

　　筛查结果显示，去年杭州市共出生新生儿约10万人，确诊患甲状腺功能低下的有61人，患苯丙酮尿症的7人，患其他遗传代谢性疾病18人。

Screening results show that,Last year a total of hangzhou of births of about 100000 people,Diagnosed with low thyroid function of 61 people,With phenylketonuria disorder 7 people,Suffer from other genetic metabolic disease 18 people.

　　浙医儿院遗传代谢科主任杨茹莱主任医师说，前一种疾病与母亲怀孕时甲状腺功能低下有关，而后一种疾病与父母的基因异常有关。但宝宝只要出生后及时干预、治疗，都可以像正常孩子一样成长。但错过7岁以内的最佳治疗期，这两种先天性疾病都会导致智力低下，成年后无法生活自理，需要别人终生看护。

ZheYi son yuan genetic metabolic section head YangRu lai chief physician said,Before a kind of disease and pregnancy low thyroid function about,And then a kind of disease and parents' abnormal gene related.But as long as the baby was born in time after intervention/treatment,May all be like normal children grow up.But miss seven years old and under the best treatment period,These two kinds of congenital disease will lead to low intelligence,Adults can't independent living,Need others life care.

许多先天缺陷，外表看不出来 Many birth defects,Appearance look not to come out

距离孩子出生的时间越近，准妈妈们的焦虑就会 The child was born time distance closer,Mothers-to-be anxiety will越重：

Is heavier:

　　“开始希望孩子是个漂亮的女娃娃；后来，希望她可以聪明、漂亮，有我的眼睛，他的鼻子；再后来，我只希望她四肢俱全，没有缺陷。”杭州一位准妈妈在微博上的这段留言，引来很多网友的共鸣。

"Begins to hope that the child is a beautiful girl;later,Hope she can be clever/beautiful,I have eyes,His nose;then,I only hope she limbs available,No defects."Hangzhou a quasi mother in micro bo on the period of message,Draw a lot of net friend resonance.

　　然而，我们怎么知道孩子是健康的？通过外表可以吗？家住浙中农村的张女士已有两个女儿，她昨天告诉记者：“千万不要光看外表，不去做出生后的筛查！”

however,How do we know the child is healthy?Through the appearance can?Live in rural middle of ms. Zhang has two daughters,Yesterday she told reporters:"Must not only see the appearance,Not to do was born after the screening!"

　　原来她生大女儿时，是顺产的，很快就出院了。之后医院通知她带宝宝去做新生儿筛查，但她觉得女儿四肢俱全，五官端正，并无异常，想想就放弃了。但长到9个月的时候，她发现，女儿看起来不太机灵，木头木脑的；拉出来的尿有股奇怪的臭味，头发也变得黄黄的。张女士以为女儿发育晚，并没有太在意。直到女儿3岁依然不会说话，路也走不稳，张女士这才着急地送女儿到浙江大学医学院附属儿童医院看病。医生明确诊断她女儿得了先天性疾病——苯丙酮尿症，是因父母的基因异常造成的。

She gave birth to the original big daughter,Is the natural labor,Soon was released from the hospital.Hospital after notice she took the baby to do neonatal screening,But she felt that her daughter to limbs,belowed,And no abnormalities,,Think about gave up.But long to 9 months,She found,Daughter doesn't look too clever,Wood wood brain;Pull out of the urine there is a strange smell,Hair also became yellow.Ms. Zhang thought daughter later development,And not too care about.Until the daughter 3 years old still can't talk,Road also take instability,Ms. Zhang this just try so hard to send his daughter to zhejiang university medical school affiliated children's hospital.The doctor diagnosed clearly her daughter got a congenital disease - phenylketonuria disorder,Because parents caused by abnormal gene.

　　而苯丙酮尿症是引起小儿智能发育障碍较为常见的原因之一。如果早期诊断，配合饮食治疗，患儿不会留下智力低下的后遗症，但张女士的女儿3岁时才被发现，即使经过治疗，仍然会有智力残障。

And phenylketonuria disorder is a cause of pediatric intelligent development obstacle is relatively common reasons.If early diagnosis,Cooperate with diet therapy,Children will not leave feeblemindedness sequelae,But ms. Zhang's daughter 3 years old to be found,Even after treatment,There will still be intellectual disabled.

想知道27种先天疾病，几滴血就可筛查 Want to know and kind of congenital diseases,A few blood can screening

　　杨茹莱说，苯丙酮尿症是一种隐性遗传病，是因为患儿的父母身上都携带有某种异常基因。通常每50个人中就有一个带有这种基因。所以患有这种先天性疾病的宝宝还是很常见的，目前浙医儿院已筛查发现我省有228位这样的患儿。

YangRu lai said,Phenylketonuria disease is a kind of recessive genetic disease,Because the parents of children who are carrying some abnormal gene.Usually each 50 people have a with the gene.So with the congenital disease baby is still very common,At present ZheYi son yuan has screening found our province has 228 such children.

　　苯丙酮尿症主要危害神经系统，多数患儿有烦躁、易激怒、抑郁等精神行为异常，最终导致中度至极重度智力低下。目前，饮食疗法是苯丙酮尿症惟一的治疗方法。

Phenylketonuria disease mainly damage the nervous system,Most children have be agitated/Easy to provoke/Depression, mental behavior anomaly,Eventually lead to moderate extremely severe mental retardation.At present,The diet is phenylketonuria disease only treatment.

　　那么哪些先天性疾病或是孩子的身体缺陷可以早期筛查出来呢？杨茹莱介绍，宝宝出生后3~7天里，凭足下三滴血可以筛查，除了先天性甲状腺功能低下症(CH)和苯丙酮尿症(PKU)外，还可以筛查其他25种遗传代谢性疾病。这些项目，对杭州的宝宝来说都是免费提供的。希望家长们配合，千万不要忽略筛查。

So what are the congenital disease or the child's physical defect can be early screening out??YangRu lai introduced,The baby was born 3 ~ 7 days,By one step three blood can screening,In addition to congenital hypothyroidism(ch)And phenylketonuria disorder(PKU)outside,Can also screening other 25 kinds of genetic metabolic disease.These projects,In hangzhou for baby are available free of charge.Hope to cooperate with parents,Don't ignore screening.

　　目前，浙医儿院对那些发现异常的孩子，都在努力进行干预和治疗，“有584个甲状腺功能低下的孩子，已经不需要吃药了；还有305个孩子也在停药观察。”杨茹莱说，先天性甲状腺功能低下症，俗称呆小症，患儿如不早期发现、早期治疗，生长发育会落后，智力也会低下。若在出生后3个月内即治疗，80%以上的患儿智力发育可达正常同龄儿童水平。

At present,ZheYi son yuan for those who found abnormal children,Are trying to carry on the intervention and treatment,"There are 584 thyroid function is lower in children,Already did not need to take medicine;There are 305 children also in drug withdrawal observation."YangRu lai said,Congenital hypothyroidism,Commonly known as cretinism,If not for the early detection of children/Early treatment,Growth will fall behind,Intelligence will also is low.If at birth that within three months after the treatment,More than 80% of the intelligence development of children to normal level of children of the same age.

婴幼儿智力低下，可能与孕期缺铁有关 Babies and infants intelligence is low,May in pregnancy and about iron deficiency

　　除了以上两种先天疾病直接导致孩子智力低下，如今小儿多动症、抽动症的发病率上升，部分孩子认知功能低下，可能与孕期缺铁也有关。

In addition to the above two kinds of congenital diseases directly cause the child to have low intelligence,Now children hyperactivity/Twitch disease incidence rise,Part of the child cognitive function is low,May and pregnancy is also linked to iron deficiency.

　　记者采访浙江大学附属妇产科医院王正平主任时，他肯定微量元素铁对孕妇和宝宝健康有影响，并认为现在不少孕妇早产与缺铁有关。他引用浙医儿院一项研究结果说，儿童多动症等心理疾病的发生也与此有关。

Reporters zhejiang university hospital when WangZhengPing director,He must trace element iron to pregnant women and baby health have influence,And that now many pregnant women with premature about iron deficiency.He quoted ZheYi son yuan the results of a study said,Children such as attention deficit disorder psychological disease is related to.

　　记者查阅到美国《儿童和青少年医学》杂志的一项调查，婴幼儿期铁缺乏的儿童和正常孩子相比，长期存在认知智力能力方面的差距，这种差距在孩子长到19岁时依然存在。

Reporters access to the United States[Children and adolescent medicine]A survey of the magazine,Baby period iron deficiency of children and normal children compared with,Long-term exist cognitive mental ability gap,The gap in the children grow up to 19 years old still exist.

　　王正平指出：“孕妇出现铁缺乏，虽然不一定患上缺铁性贫血，但此时已经对胎儿生长发育产生负面影响。”胎儿体内铁储备减少，直接导致新生儿出现铁缺乏，而婴儿缺铁又为儿童期缺铁埋下了隐患。一项针对患缺铁性贫血的11~14岁儿童长期调查结果显示，尽管在婴幼儿时期已经纠正了缺铁性贫血，但他们在学校中的学习能力仍然受到损害。

WangZhengPing pointed out that:"Pregnant women appear iron deficiency,Although not necessarily suffer from iron deficiency anemia,But now to fetal growth have a negative impact."Fetus iron reserves to reduce,Led directly to the neonatal appear iron deficiency,And baby iron deficiency and childhood iron deficiency the hidden trouble.A study of with iron deficiency anemia 11 ~ 14 years old children's long-term survey,Although in childhood period have corrected iron deficiency anemia,But they are still in school learning ability damage.

　　王正平提醒：“如果孕期感觉特别疲劳就需要引起重视，除了多吃含铁元素的肉类、猪肝、菠菜等，还需要补充铁、钙、叶酸等微量元素，千万不要等贫血再治疗，否则对胎儿会或多或少造成智力损害。”(记者 林丹 本报通讯员 王雪飞/文 林焱挺/制图)

WangZhengPing remind:"If pregnancy feel special fatigue will need to bring to the attention,In addition to eat more contain iron meat/Pork liver/Spinach,,Still need to supplement iron/calcium/Folic acid and other trace elements,Never again, such as treatment of anemia,Or to the fetus will more or less damage caused by intelligence."(Reporter lindane our correspondent WangXueFei/text LinYanTing/drawing)