May 27, 2012

All Birth Defects Are Severe Or Even Fatal


Birth Defects
"Fetal cells are less immunogenic than adult cells, and amniotic-fluid cells are even less immunogenic than fetal cells. This is just the beginning; the dawn of a new avenue of treating birth defects. We're excited to be pioneering it."--DARIO FAUZA, MD

Many parents assume that all birth defects are severe or even fatal, but the fact is that many are treatable, often immediately after birth — and sometimes even before the baby is born.

It's especially important to know the risk factors involved and how to prevent birth defects. However, it's also important to realize that most babies born with congenital defects are born to two healthy parents.

Michael Katz, M.D., senior vice president for research and global programs at the March of Dimes, adds that the human toll of birth defects is even greater when the impact of lifelong disability on children, their families, and society is taken into account.

The report says in addition to poverty and the many health problems that can accompany it, the higher rates of birth defects in poorer countries, can be attributed to more older women having children and marriages between blood relatives.

In countries along the world's "malaria belt," far more people carry one copy of a genefor an inherited disease that confers some protection against malaria, sickle cell anaemia.

Structural or metabolic defects are those in which a specific body part is missing or formed incorrectly; metabolic birth defects are those in which there is an inborn problem in body chemistry. The most common type of major structural defects are heart defects, which affect 1 in 150 babies in the United States.

Other common structural defects include spina bifida, cleft palate, clubfoot, and congenital dislocated hip.

Metabolic defects affect 1 in 3,500 babies and usually involve a missing or incorrectly formed enzyme (a protein necessary for processing chemical substances in the body). Most children with a metabolic birth defect do not have any visible abnormalities, but metabolic defects are usually harmful or can be even fatal. Metabolic defects include Tay-Sachs disease, a fatal disease that affects the central nervous system, and phenylketonuria (PKU), which affects the way the body processes protein.

Defects caused by congenital infections result when a mother gets an infection before or during the pregnancy. Infections that can cause birth defects include rubella (German measles),cytomegalovirus (CMV), syphilis, toxoplasmosis, Venezuelan equine encephalitis, parvovirus, and, rarely, chickenpox. None of these affect 100% of babies whose mothers are infected during pregnancy. If the mother is infected during early pregnancy, rubella carries the highest risk for birth defects (approximately 20%). Because of nearly universal immunization in the United States, rubella is very, very rare and the congenital rubella syndrome is almost never seen. CMV is probably the most common congenital infection and may be associated with intellectual disability (mental retardation) and hearing loss.

The authors of the report say that it is a common misconception that attention to birth defects will draw funding from other priority public health efforts, when in fact, increased efforts to reduce birth defects in children contributes to the health of the entire population.

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