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  • Home / Ningbo Times
    Full Coverage in Ningbo: Parental Genetic Screening Tests for Mothers-To-Be
    Source: Insight Ningbo  | 2022-06-13 11:09:08

      Recently, Ms. Wang has been preparing for pregnancy after two years of marriage. Together with her husband, she went to Zhenhai Maternal and Child Health Care Hospital in Ningbo for preconception counselling. Onsite blood sampling was undertaken as the doctor advised, and their blood sampling was then sent for genetic disease carrier screening through genetic testing at the Central Laboratory of Birth Defects Prevention and Control in Ningbo Women & Children’s Hospital. The lab has signed agreements with all county/district-level maternity and childcare hospitals in Ningbo, enabling genetic disease carrier screening to be accessible for all pregnant women.

      結婚兩年的王女士準備懷寶寶了,她和丈夫到就近的鎮海區婦保院,就備孕事項進行咨詢后,接受醫生的建議當場采血,血樣隨后被送往位于寧波市婦女兒童醫院的寧波市出生缺陷綜合防治中心,通過基因檢測進行遺傳性疾病的基因篩查。目前,該中心同寧波基層婦保院都簽訂了出生缺陷項目合作協議,讓所有孕產婦在基層就能享受到很多疑難雜癥的基因組檢測服務。

      During her preconception, Ms. Wang and her husband had taken a variety of gene tests related to genetic diseases. According to the test reports revealed weeks later, they were both found to be thalassemia gene carriers and hence sought assistance from Ningbo Central Laboratory of Birth Defects Prevention and Control.

      王女士在備孕階段跟丈夫一起做了跟遺傳病相關的基因檢測。幾個星期后,檢測報告顯示:夫妻倆都是地中海貧血基因的攜帶者。經醫生推薦,他們找到市出生缺陷綜合防治中心咨詢。

      Thalassemia is an autosomal recessive genetic disease. A quarter of children born to thalassemia carrying parents will be healthy, half of them have thalassemia minor (just like their parents), and another quarter develop thalassemia major. Symptoms range from fatigue, growth issues, increased rate of infection and can result in the patient requiring blood transfusions.

      地中海貧血是一種常染色體隱性遺傳性疾病,假如父母雙方均為同一型別的地貧基因攜帶者,懷孕以后他們所孕育的胎兒中有1/4是正常胎兒,1/2是輕型地貧(同父母一樣),1/4是中重型地貧患者。

      According to their test results, Li Haibo, the lab's director, offered them two solutions: one is to receive third-generation IVF to ensure a healthy baby, and the other is to get pregnant naturally but constantly monitor the fetus through prenatal diagnosis. If the fetus is diagnosed as having thalassemia intermedia or thalassemia major, the pregnancy should be terminated.

      根據兩人的檢測結果,該中心李海波主任給他們提供了兩個方案:一種方法是直接做三代試管嬰兒,可一次性出生健康的寶寶;或者正常地自然妊娠,但要通過產前診斷加強監測,如果確認胎兒為中重型地中海貧血,就應及時阻斷。

      The couple went with the second option. Mrs. Wang is pregnant now; and fortunately, according to constant prenatal monitoring, the fetus has proved to be among the 50% of fetuses with thalassemia minor (the same as the parents).

      夫妻倆最終采納了第二個方案。目前王女士已經如愿懷上了寶寶,而且幸運的是,經過產前診斷的監測,胎兒屬于1/2的那種類型,也就是跟父母一樣的地貧基因攜帶者。

      Testing positive is actually quite normal, as Director Li explained, because about 70% of people carry various pathogenic genes, usually without any symptoms or signs. However, if both members of a couple carry with the same type of disease-causing gene, their child is much more likely to bear the genetic disease. It can be seen that genetic disease carrier screening is of great necessity.

      李主任解釋說,遺傳病基因的攜帶其實非常普遍,大約70%的人都攜帶有各種不同的致病基因,只是不會發病,也幾乎沒有任何表現。但是,如果兩名同種致病基因的攜帶者結婚生子,那生出疾病患兒的幾率就大大增加,由此可見遺傳性疾病基因篩查的必要性。

      In fact, the number of terminated pregnancies due to lab-confirmed birth defects is substantial across Ningbo. In 2019, 2,774 pregnant women received birth defect prevention test, and 313 pregnancies diagnosed as abnormal had been terminated. The corresponding figures were 2,232 and 317 in 2020, 1,990 and 300 in 2021 respectively.

      事實上,市出生缺陷綜合防治中心每年產前診斷出的異常,繼而被阻斷的胎兒數也不可小視。2019年,產前診斷孕婦2774人,篩出異常后選擇阻斷的有313人;2020年,這兩個數據分別為2232和317人;2021年,這兩個數據為1990和300。

      The Central Laboratory of Birth Defects Prevention and Control was set up in Ningbo in 2018 to reduce birth defects. Up to now, a comprehensive technical system has been established, including experiment platforms of prenatal screening during pregnancy, cytogenetic diagnosis, tandem mass spectrometry, and other experiment platforms of neonatal genetic metabolic diseases. It also includes high-throughput sequencing and gene chip platforms, covering the whole cycle of intervention measures for the prevention and treatment of birth defects.

      據介紹,正是基于減少缺陷兒出生的宗旨,2018年,寧波市成立了出生缺陷綜合防治中心,到現在已形成包括產前篩查實驗平臺、細胞遺傳學診斷實驗平臺、串聯質譜等新生兒遺傳代謝病實驗平臺、高通量測序平臺、基因芯片平臺等在內的全方位技術體系。

      Furthermore, the central lab leverages the service and quality control networks in relation to the healthcare of local women and children, signing agreements with all county/district-level maternity and childcare hospitals on birth defect prevention. Such wide-range cooperation also includes assistance and guidance on personnel training, technical guidance, information management, and quality control. The full coverage of genetic disorder screening will greatly improve regional comprehensive prevention and control of birth defects in Ningbo.

      不僅如此,中心還利用寧波特色的婦幼保健服務與質控網絡,跟基層婦幼保健院全面簽訂出生缺陷項目合作協議,在基層的人員培訓、技術指導、信息管理和質量控制等方面給予協助指導,目前已覆蓋了所有的基層婦幼保健院;驒z測的全覆蓋,將極大地提高區域出生缺陷的綜合防治能力。

      Reporter: Cheng Xin

      Correspondent: Ma Dieyi

      Translators: Mei Jie, Lü Chang

      Proofreaders: Huang Dawang, Paul Maybrow

    【Editor:王靜秋】
    游泳教练水下疯狂h
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