Science Relief

Genetic Disorders Birth Defects. Exposure of the mother to rubella or German measles during pregnancy or using drugs or alcohol during pregnancy.

Why We Don T Know What Causes Most Birth Defects

The mother or father may pass on genetic abnormalities to their baby.

Genetic causes of birth defects. In the United States. A combination of gene mutations environmental factors and. Fact sheet on microcephaly.

Genetic abnormalities occur when a gene becomes flawed due to a mutation or change. Zika infection in pregnancy also results in pregnancy complications such as fetal loss stillbirth and preterm birth. A genetic disorder is a hereditary disease caused by changes in the DNA.

Women who get certain infections during pregnancy are at higher risk for having a child with birth defects. Genetic causes of birth defects fall into three general categories. More than 3 million children die of genetic birth defects by age 5 and almost as many may be.

In some cases a gene or part of a gene. Birth defects have many causes and currently are the leading cause of death for infants in the first year of life. More than 177000 births worldwide yearly.

Genetic causes of birth defects include inheritance of abnormal genes from the mother or the father as well as new mutations in one of the germ cells that gave rise to the fetus. Emerging genomic sequencing technologies provide an unprecedented opportunity to identify genetic variants including those that cause birth defects. Functionaldevelopmental birth defects are addressed more completely in the intellectual and developmental disabilities content.

Most often a genetic mutation or chromosomal abnormality causes the defect. Genetic or hereditary factors. Fifth disease is a contagious infection that is caused by the human.

Some of the causes of birth defects include genetic or chromosome problems. Birth defects may be caused by genetic problems problems with chromosomes or environmental factors. It can also increase the chance of premature birth and low birth weight.

It is usually the result of mutation in one or multiple genes. A growing body of research suggests however that many birth defects are not caused by bad genes but by susceptible genes that are triggered by one or more bad things from the world around us. Birth defects affect one in every 33 babies about 3 of all babies born in the United States each year.

How do genes and chromosomes affect birth defects. Experts dont know the exact cause of most birth defects but some reasons are. Chemicals X-rays smoking poor nutrition lead and mercury are just some of the exposures that can adversely affect genes.

Phenylketonuria PKU is a metabolic disease caused by a genetic mutation. G6PD deficiency enzyme deficiency that causes anemia. Drug exposure during pregnancy.

Genetic testing has enabled researchers and clinicians to detect inherited traits diagnose heritable conditions determine and quantify the likelihood that a heritable disease will develop and identify genetic susceptibility to familial disorders. Our inability to accurately predict diagnose and treat the common sequelae of birth defects leaves the economic social and public health burden of birth defects unacceptably high. Most birth defects are found within the first year of life.

Some birth defects affect many parts or processes in the body leading to both structural and functional problems. Zika virus infection during pregnancy is a cause of microcephaly and other congenital abnormalities in the developing fetus and newborn. Fifth Disease and Pregnancy.

This information focuses on structural birth defects their causes their prevention and their treatment. Read article Birth defects are the leading cause of infant deaths accounting for 20 of all infant deaths. Male germ cells mutate at a much faster rate than female germ cells and as the father ages the DNA of the germ cells mutates quickly.

Structural birth defects are related to a problem with body parts such as cleft lip or cleft palate heart defects such as missing or misshaped valves abnormal limbs such as a club foot and neural tube defects such as spina bifida. Other birth defects result from having an extra chromosome such as in Klinefelter syndrome and Down syndrome. Over the course of the last decade the definitions of health and disease have been transformed by advances in genetics.

With genetic birth defects the genetic material that is inherited by the baby from the parents is flawed. Some birth defects such as cleft lip are easy to see but others such as heart defects or hearing loss are found using special tests such as echocardiograms an ultrasound picture of the heart x-rays or hearing tests. A birth defect can be found before birth at birth or any time after birth.

About 20 of birth defects are caused by genetic or hereditary factors. Smoking during pregnancy increases the chance of cleft lip and palate. For data on specific birth defects please visit the specific birth defects pages.

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