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Birth Defects

PregnancyIt could be the most frightening news a parent receives, yet it happens every day. The parents of one out of every 28 babies learn that their baby has a birth defect. Birth defects, according to the March of Dimes (MOD), affect 150,000 babies each year. While birth defects range from mild to severe, MOD says they are the leading cause of death in the first year of life. A birth defect, according to the Centers for Disease Control and Prevention (CDC), can affect how a person looks and/or functions. Most defects develop long before the baby is born. According to the CDC, many birth defects happen during the first 3 months of pregnancy. They can be discovered before birth, at birth, or after birth. The CDC says most are found during a baby's first 12 months of life.

Birth defects are grouped into different categories. Some of the terms you might here to describe birth defects include:

  • Structural abnormalities - When any part of the body is either missing or malformed, the defect is described as structural. According to MOD, heart defects and genitourinary defects top the list as the most common structural defects. (Read about "Congenital Heart Defects" "Genitourinary Birth Defects") Spina bifida - a neural tube defect in which there is an open spine and usually a malformation of the spinal cord - is another example of a structural abnormality. (Read about "Neural Tube Defects")
  • Chromosome abnormalities - Abnormalities in the number or structure of chromosomes can cause numerous birth defects. Down syndrome, in which a baby is born with an extra chromosome 21, is one of the most common chromosomal abnormalities. (Read about "Down Syndrome")
  • Metabolic disorders - Metabolic disorders are not as visible as structural defects, yet they can be extremely severe and sometimes even result in death. MOD says one in 3,500 infants suffer from metabolic disorders. Many of these diseases like Tay-Sachs (Read about "Tay-Sachs") and Phenylkeonuria (PKU) are genetic. They result from the inability of cells to produce an enzyme that is necessary to either change certain chemicals into others, or to move substances from one place to another. PKU and other metabolism disorders can be detected during newborn screenings. (Read about "Newborn Screenings")

According to MOD, the causes of about 60 to 70 percent of birth defects are not known. When birth defects can be traced to a cause, possibilities include genetics and environment. For example, the American College of Obstetricians and Gynecologists (ACOG) says a baby can be born with a birth defect because the mother was exposed to an infection. (Read about "Microorganisms") MOD lists rubella or "German measles" (Read about "Childhood Illnesses") as possibly the best known congenital infection. Another infection - Cytomegalovirus (CMV) - is considered the most common congenital viral infection, according to MOD. It affects about 40,000 babies a year. CMV is a member of the herpes virus family. (Read about "Herpes") Sexually transmitted diseases (Read about "STD's") can also endanger the fetus. MOD says untreated syphilis, for example, can result in stillbirth, newborn death or bone defects. (Read about "Skeletal System") An incompatibility between the blood of a mother and her fetus leads to a birth defect called Rh disease, according to MOD. Other causes of birth defects include fetal alcohol syndrome, which is common among babies whose mothers drink too much during pregnancy. (Read about "Alcoholism") Cocaine use may also increase the risk of birth defects.

Anencephaly: see Neural Tube Defects

Apert syndrome: see Craniofacial Disorders

Arteriovenous malformations (AVMs): see Vascular Lesions of the Central Nervous System

Atrial septal defect: see Congenital Heart Defects

Birth marks: see Vascular Birthmarks

Bladder exstrophy: see Genitourinary Birth Defects

Bleeding disorders: see Bleeding Disorders

Capillary telangiectases: see Vascular Lesions of the Central Nervous System

Cavernous malformations: see Vascular Lesions of the Central Nervous System

Cleft lip: see Cleft Lip and Cleft Palate

Cleft palate: see Cleft Lip and Cleft Palate

Clubfoot: see Clubfoot

Coarctation of the aorta: see Congenital Heart Defects

Craniofacial disorders: see Craniofacial Disorders

Craniosynostosis: see Craniofacial Disorders

Crouzon syndrome: see Craniofacial Disorders

Cystic fibrosis: see Cystic Fibrosis

Deafness: see Hearing Loss

DiGeorge syndrome: see Primary Immunodeficiency

Down syndrome: see Down Syndrome

Encephaloceles: see Neural Tube Defects

Genital ambiguity: see Genitourinary Birth Defects

Genitourinary birth defects: see Genitourinary Birth Defects

Glaucoma, congenital: see Glaucoma

Hearing loss: see Hearing Loss

Heart defects: see Congenital Heart Defects

Hemangioma: see Vascular Birthmarks

Hemophilia: see Bleeding Disorders

Hydrocephalus: see Hydrocephalus

Hydronephrosis: see Genitourinary Birth Defects

Hypospadias: see Genitourinary Birth Defects

Klinefelter syndrome (XXY): see Klinefelter Syndrome (XXY)

Macular stains: see Vascular Birthmarks

Marfan syndrome: see Marfan Syndrome

Muscular dystrophy: see Neuromuscular Diseases

Neural tube defects: see Neural Tube Defects

Neuromuscular diseases: see Neuromuscular Diseases

Osteopetrosis: see Osteopetrosis

Patent ductus arteriosus: see Congenital Heart Defects

Patent foramen ovale: see Patent Foramen Ovale

Pfeiffer syndrome: see Craniofacial Disorders

Polycystic kidney disease (PKD): see Polycystic Kidney Disease

Port wine stains: see Vascular Birthmarks

Pregnancy testing: see Pregnancy Testing

Renal agenesis: see Genitourinary Birth Defects

Rett syndrome: see Autism Spectrum Disorders

Saethre-Chotzen syndrome: see Craniofacial Disorders

Sickle cell disease: see Sickle Cell Disease

Spina bifida: see Neural Tube Defects

Tay-Sachs disease (infantile form): see Tay-Sachs Disease (infantile form)

Testing: see Pregnancy Testing

Tetralogy of Fallot: see Congenital Heart Defects

Transposition of the great arteries: see Congenital Heart Defects

Undescended Testicle: see Genitourinary Birth Defects

Venous malformations: see Vascular Lesions of the Central Nervous System

Ventricular septal defect: see Congenital Heart Defects

Vesicoureteral reflux, primary: see Genitourinary Birth Defects

XXY (Klinefelter syndrome): see Klinefelter Syndrome (XXY)

All Concept Communications material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.

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By printing and/or reading this article, you agree that you accept all terms and conditions of use, as specified online.