Screening for Birth Defects

Screening for Birth Defects

Some birth defects-like Down syndrome and dwarfism-are evident at birth. Others-like PKU, sickle cell anemia and congenital hypothyroidism-can't be detected without a blood test. This newborn screening for disorders is normal for every baby.

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Birth Defects from Maternal Infection

A congenital disease, like brain damage or cerebral palsy, can be passed from mother to baby via an infection. These birth defects are from transmission which can happen during vaginal delivery, as with herpes, or in utero, like with rubella.

Understanding Birth Defects

Birth defects occur in 1 in 33 babies. These disabilities can be structural defects, like cleft lips and spina bifida, or genetic defects like Tay-Sachs Disease. They may be caused by gene mutation or environmental factors, like FAS.

Prenatal Testing for Birth Defects

To gauge whether your fetus may have a birth defect, you can have prenatal testing. Most commonly, a Nuchal Translucency Test or amniocentesis procedure can look for chromosomal abnormalities-like Down syndrome and trisomy 18-in a fetus.

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Understanding Birth Defects

Birth defects occur in 1 in 33 babies. These disabilities can be structural defects, like cleft lips and spina bifida, or genetic defects like Tay-Sachs Disease. They may be caused by gene mutation or environmental factors, like FAS.

Chromosomal Birth Defects

Some birth defects are due to chromosomal abnormalities in a baby. These include trisomy abnormalities like Down syndrome, and monosomy ones like Turner's syndrome. They also encompass X chromosome and Y chromosome problems, like hemophilia.

Genetic Birth Defects

From sickle cell anemia to dwarfism, many birth defects are due to gene mutation. To understand genetic defects, it helps to have an idea of dominant genes, recessive genes and how they are passed from parent to baby.