先天缺陷和先天性异常

什么是先天缺陷和先天性异常？

About 3 to 4 percent of babies are born with some type of birth defect. A birth defect is a health problem or a physical abnormality. It can be very mild or severe. Some birth defects are life-threatening, in which case a baby may only live for a few months. Birth defects are also referred to as "congenital anomalies" or "congenital abnormalities."

The most common birth defects are:

• heart defects
• cleft lip/palate
• Down syndrome
• spina bifida

What causes birth defects?

Most birth defects are caused by genetic or environmental factors or a combination of the two (multifactorial birth defects). In most cases, however, the cause is unknown.

遗传或继承原因包括：

• chromosomal defects: caused by too few or too many chromosomes, or problems in the structure of the chromosomes, such as Down syndrome and extra copy of chromosome 21 and sex chromosome abnormalities
• 单基因缺陷：一个基因中的突变导致缺陷
• 主要继承：当一个父母（可能没有疾病的父母）沿着单个错误的基因传递时，例如adnondroploplasiaandMarfan syndrome
• 隐性遗传：当没有疾病的父母双方都将疾病的基因传递给孩子，例如囊性纤维化andGM2 gangliosidosis(Tay-Sachs disease)

环境原因可以包括母亲有药物，酒精或疾病，可以增加婴儿出生的机会。可能导致先天缺陷的药物称为致病。

Multifactorial birth defects are caused by a combination of genes and environmental exposures. In other words, a person can inherit a gene that increases sensitivity to an environmental trigger. Examples include cleft lip or palate, certain heart defects, and neural tube defects.

我如何降低生育缺陷的孩子的机会？

女人可以采取许多步骤来降低生育缺陷的孩子的机会，包括在决定怀孕之前保持健康。那是因为一个女人常常不知道自己在头几周怀孕，这对于婴儿的健康和发育至关重要。

Other steps you can take throughout your pregnancy include:

• 停止吸烟：吸烟的母亲出生的婴儿往往是较低的出生体重；此外，暴露于二手烟会损害胎儿。
• 吃健康的饮食：在怀孕之前和怀孕期间吃均衡的饮食不仅对母亲的整体健康有益，而且对于为发育中的胎儿提供必不可少的营养物质，以进行适当的生长和发育。
• Maintain a healthy weight: Women who are overweight may experience medical problems such ashigh blood pressureanddiabetes，体重不足的妇女可能有婴儿low birthweight。
• 先前存在的医疗管理：控制任何当前或先前存在的医学问题，例如糖尿病或高血压。
• Folic acid: Taking 400 micrograms of folic acid each day can help lower the risk of neural tube defects, or birth defects of the brain and spinal cord. The vitamin is also found in some green leafy vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals.
• Avoid exposure to alcohol and drugs during pregnancy: Be sure to inform your physician of any medications and herbal supplements you are taking, since they can all have adverse effects on the developing fetus.
• Avoid exposure to harmful substances: These include lead, pesticides, and radiation (i.e.,X射线), which may harm the developing fetus.
• Lower your risk for infection. Pregnant women should avoid eating undercooked meat and raw eggs and avoid all contact and exposure to cat feces and cat litter, which may contain a parasite, toxoplasma gondii, that causestoxoplasmosis。其他感染的来源包括昆虫have been in contact with cat feces.
• 服用每日维生素：每天开始服用医生处方的产前维生素，以确保您的身体获得滋养健康婴儿所需的所有必要营养素和维生素。
• Dealing with domestic violence: Women who are abused before pregnancy may be at risk for increased abuse during pregnancy. Your doctor can help you find community, social, and legal resources to help you deal with domestic violence.

我们如何照顾出生缺陷

The产妇护理中心is one of a handful of comprehensive fetal care centers in the United States, and the only one in New England. The MFCC treats, supports, and manages complicated fetal anomalies. Its doctors were the world's first to perform life-saving cardiac interventions, such as treating heart problemsin utero。The center is also advancing treatments forcongenital diaphragmatic hernia，婴儿天生有隔膜孔或根本没有隔膜的疾病。