Diaphragmatic Hernia : Causes

A diaphragmatic hernia is caused by the improper joining of structures during fetal development. As a result, the abdominal organs such as the stomach, small intestine, spleen, part of the liver, and the kidney appear in the chest cavity. The lung...

Birth defects are physical abnormalities that are present at birth; they are also called congenital abnormalities. More than 3,000 have been identified.

Detailed information on birth defects, including their cause and prevention

Question: Does folic acid use help prevent birth defects? Answer: There is good evidence that you can reduce the risk of certain birth defects (spina bifida and anencephaly) by taking a daily dose of 400 micrograms folic acid from 1 month before conception through the first trimester of pregnancy. Therefore, if you would like to become pregnant in the near future, you should take a multivitamin with this amount of folic acid. Women who have had a baby with a neural tube defect will need a higher dose of folic acid. If you have had a baby with a neural tube defect, you should take 400 micrograms of folic acid every day, even when you are not planning to become pregnant. If you plan to become pregnant, you should talk to your doctor and increase your folic acid intake to 4 milligrams each day during the month before you become pregnant until at least the 12th week of pregnancy.

Any unusual variation or abnormality in the shape, structure, and/or function of an organ, body part, or tissue is commonly referred to as a birth defect. However, congenital anomaly is the more accurate and preferred term, since birth defect can be misinterpreted to mean a defect produced by the birthing process. Congenital anomalies may be external or internal, single (isolated) or multiple, major or minor, and by definition are present at (and almost always before) birth, although in some cases detection/diagnosis occurs well after birth. As a group, congenital anomalies are common, have a wide range of clinical severity, and can develop, in one form or another, in any anatomical structure or location. There are many different causes of congenital anomalies, known and unknown, but in terms of how they develop, there are four major types: malformations, deformations, disruptions, and dysplasias.

Detailed information on the most common congenital and hereditary disorders in children

Detailed information on evaluating a child for birth defects

Detailed information on the identification, treatment, and prevention of birth defects

Detailed information on birth defects, including their cause and frequency

Detailed information on testing for birth defects

Defects present at birth, resulting from hereditary factors, environmental influences, or maternal illness. Birth or congenital defects are present at birth and result from hereditary factors, environmental influences, or maternal illness. Such defects range from very minor, such as a dark spot or birthmark that may appear anywhere on the infant's body, to more serious conditions that may result in marked disfigurement or limit the lifespan of the child. A number of factors individually or in combination may cause birth defects. Heredity plays a major role in passing birth defects from one generation to the next. Such conditions as sickle-cell anemia, color blindness, deafness, and extra digits on the hands or feet are hereditary. The condition may not appear in every generation, but the defective gene is usually passed on. Low birth weight is the most common birth defect, with one in every 15 babies being born at less than their ideal weight. Weights between 5 lb, 8 oz (2,500 g) and 3 lb, 5 oz (1,500 g) are considered low. Low birth weight may occur if the baby is born prematurely, before the normal gestation period of 38 weeks has elapsed, or after a normal gestation period. Premature birth, other than being a birth defect in itself, may also have accompanying effects. A baby born before the 28th week of gestation, for example, may have great difficulty breathing because the lungs have not developed fully. Prenatal conditions can cause birth defects. For example, the mother's exposure to chemicals such as mercury or to radiation during the first three months of pregnancy may result in an abnormal alteration in the growth or development of the fetus. The mother's diet may also be a factor. A balanced, healthy diet is essential to the proper formation of the fetus because the developing baby receives all of its nutrition from the mother. Prenatal development of the fetus may also be affected by disease that the mother contracts, especially any that occur during the first trimester (three months) of pregnancy. For example, if a pregnant woman contracts German measles, or rubella, the virus may cross the placenta and infect the fetus. The rubella virus interferes with the fetus's normal metabolism and cell movement and can cause blindness (from cataracts), deafness, heart malformations, and mental retardation. The risk of fetal damage resulting from maternal rubella infection is greatest during the first month of pregnancy (50%) and declines with each succeeding month. It is especially important that the mother not smoke, consume alcohol, or take drugs while she is pregnant. Drinking alcohol heavily can result in fetal alcohol syndrome (FAS). Newborns with FAS have small eyes and a short, upturned nose that is broad across the bridge, making the eyes appear farther apart than normal. These babies are also underweight at birth and do not catch up as time passes. They often have some degree of mental retardation and may exhibit behavior problems. A mother who continues to use illicit drugs, such as heroin, crack, or cocaine, will have a baby who is addicted to its mother's drug. The addiction may not be fatal, but the newborn will be physically uncomfortable and disagreeable until the addiction is controlled. Some therapeutic drugs taken by pregnant women have also been shown to produce birth defects. The most notorious example is thalidomide, a mild sedative. During the 1950s women in more than 20 countries who had taken this drug gave birth to more than 7,000 severely deformed babies. These children suffered from a condition called phocomelia, which is characterized by extremely short limbs, often with no fingers or toes. In 1992, the U.S. Public Health Service published the recommendation that all women of childbearing age consume 0.4 milligrams of folie acid daily to decrease the risk of two common and serious birth defects, spina bifida and anencephaly. The Centers for Disease Control estimates that 50-70% of these birth defe

Detailed information on birth defects, including their cause and frequency

Detailed information on the most common congenital and hereditary disorders in children

Detailed information on newborn screening for birth defects

What Do You Know About Birth Defects?According to the National Institute of Child Health and Human Development, birth defects are structural or functional abnormalities present at birth that cause physical or mental disability. 

Detailed information on birth defects, including their cause and frequency

A congenital anomaly may be viewed as a physical, metabolic, or anatomic deviation from the normal pattern of development that is apparent at birth or detected during the first year of life. Under this definition, Mendelian genetic disorders (e.g., phenylketonuria), chromosomal abnormalities (e.g., Down syndrome), tumors (e.g., Wilms' tumor), infections (e.g., rubella, toxoplasmosis, herpes virus, cytomegalovirus, HIV, and syphilis), exposure to teratogenic agents (e.g., cocaine, tobacco, or alcohol), maternal disease (e.g., maternally transmitted autoantibodies, phenylketonuria), and pure bad luck or accident (e.g., a twisted umbilical cord) can all contribute to the development of a congenital anomaly. It is important to determine which of these predisposing conditions have led to the anomaly, because knowledge of the etiologic agent or agents influence not only therapy, but also prevention in the case of future pregnancies. In the United States in 1998, of nearly 4 million live births, just over 45,000 babies (1.15 percent of births) had congenital anomalies of significant enough severity to be recorded on their birth certificates. Musculoskeletal anomalies (e.g., cleft lip/palate, polydactyly, clubfoot) were most common (465 per 100,000 live births), followed by cardiovascular and respiratory malformations (250 per 100,000 live births), urogenital malformations (e.g., malformed genitalia, renal agenesis; 193 per 100,000 live births), central nervous system malformations (e.g., anencephaly, spina bifida, hydrocephalus, microcephalus; 83 per 100,000 live births), gastrointestinal malformations (e.g., rectal atresia/stenosis, tracheo-esophageal fistula, omphalocoele; 83 per 100,000 live births), and multiple malformations attributable to chromosomal anomalies (77 per 100,000 live births). Prevention is the best approach to congenital anomalies. A teratogen can be defined as an agent or factor (e.g., infectious agents, physical agents such as radiation and heat, drug and chemical agents, and maternal metabolic and genetic factors) that can produce abnormalities of form and function in an exposed fetus. As a general rule, organ systems are created during the first trimester of life, structured during the second trimester, and undergo maturation in the third trimester. Thus, teratogens tend to exercise their most destructive effect during the first and second trimesters, underscoring the importance of avoiding exposures to known teratogens from the point a decision is made to consider pregnancy. Prophylaxis can also be practiced, for example, by fortifying the diet with folic acid to reduce the risk of neural tube defects. Abnormal development of major organ systems is readily apparent before the end of the second trimester, making examination of the fetus by ultrasound the simplest form of screening. Some conditions such as obstruction of the urinary tract, are treatable in utero . Evaluation for specific disorders is also available for mothers at risk as a result of genetic background, ethnicity, age, history of exposure, or other routine screening tests. The potential benefits from a given procedure must be balanced against the expected risk. For example, the vast majority of babies with Down syndrome are born to mothers between the age of twenty and thirty; however, the risk of having a baby with Down syndrome begins to increase exponentially after age thirty. Definitive diagnostic procedures, such as chorionic villous sampling and amniocentesis, carry the risk of abortion, hence most physicians discourage these procedures for younger women, where the risk of complications is greater than the prevalence of the suspected anomaly, if the parents have already decided that an induced abortion is out of the question. Gross abnormalities are obvious at birth, whereas many metabolic abnormalities are not immediately apparent and represent a significant, and possibly preventable, hazard to the health and well-being of the patient. I

Detailed information on the most common types of newborn complications

Detailed information on birth defects, including their cause and frequency