Information for Patients
What are birth defects?
A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.
A birth defect may affect how the body looks, works, or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. Others, like heart disease, are found using special tests. Birth defects can range from mild to severe. How a birth defect affects a child's life depends mostly on which organ or body part is involved and how severe the defect is.
What causes birth defects?
For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:
- Genetics. One or more genes might have a change or mutation that prevents them from working properly. For example, this happens in Fragile X syndrome. With some defects, a gene or part of the gene might be missing.
- Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing. This is what happens in Turner syndrome. In other cases, such as with Down syndrome, the child has an extra chromosome.
- Exposures to medicines, chemicals, or other toxic substances. For example, alcohol misuse can cause fetal alcohol spectrum disorders.
- Infections during pregnancy. For example, infection with Zika virus during pregnancy can cause a serious defect in the brain.
- Lack of certain nutrients. Not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.
Who is at risk of having a baby with birth defects?
Certain factors may might increase the chances of having a baby with a birth defect, such as:
- Smoking, drinking alcohol, or taking certain "street" drugs during pregnancy
- Having certain medical conditions, such as obesity or uncontrolled diabetes, before and during pregnancy
- Taking certain medicines
- Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a genetic counselor,
- Being an older mother, typically over the age of 34 years
How are birth defects diagnosed?
Health care providers can diagnose some birth defects during pregnancy, using prenatal testing. That's why it important to get regular prenatal care.
Other birth defects may not be found until after the baby is born. Providers may find them through newborn screening. Some defects, such as club foot, are obvious right away. Other times, the health care provider may not discover a defect until later in life, when the child has symptoms.
What are the treatments for birth defects?
Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.
Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.
Can birth defects be prevented?
Not all birth defects can be prevented. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby:
- Start prenatal care as soon as you think you might be pregnant, and see your health care provider regularly during pregnancy
- Get 400 micrograms (mcg) of folic acid every day. If possible, you should start taking it at least one month before you get pregnant.
- Don't drink alcohol, smoke, or use "street" drugs
- Talk to your health care provider about any medicines you are taking or thinking about taking. This includes prescription and over-the-counter medicines, as well as dietary or herbal supplements.
- Learn how to prevent infections during pregnancy
- If you have any medical conditions, try to get them under control before you get pregnant
Centers for Disease Control and Prevention
Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol.
Bone diseases can make bones easy to break. Different kinds of bone problems include:
- Low bone density and osteoporosis, which make your bones weak and more likely to break
- Osteogenesis imperfecta makes your bones brittle
- Paget's disease of bone makes them weak
- Bones can also develop cancer and infections
- Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
General Equivalence Map Definitions
The ICD-9 and ICD-10 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.
- Approximate Flag - The approximate flag is on, indicating that the relationship between the code in the source system and the code in the target system is an approximate equivalent.
- No Map Flag - The no map flag indicates that a code in the source system is not linked to any code in the target system.
- Combination Flag - The combination flag indicates that more than one code in the target system is required to satisfy the full equivalent meaning of a code in the source system.
Index of Diseases and Injuries Definitions
- And - The word "and" should be interpreted to mean either "and" or "or" when it appears in a title.
- Code also note - A "code also" note instructs that two codes may be required to fully describe a condition, but this note does not provide sequencing direction.
- Code first - Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. For such conditions, the ICD-10-CM has a coding convention that requires the underlying condition be sequenced first followed by the manifestation. Wherever such a combination exists, there is a "use additional code" note at the etiology code, and a "code first" note at the manifestation code. These instructional notes indicate the proper sequencing order of the codes, etiology followed by manifestation.
- Type 1 Excludes Notes - A type 1 Excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
- Type 2 Excludes Notes - A type 2 Excludes note represents "Not included here". An excludes2 note indicates that the condition excluded is not part of the condition represented by the code, but a patient may have both conditions at the same time. When an Excludes2 note appears under a code, it is acceptable to use both the code and the excluded code together, when appropriate.
- Includes Notes - This note appears immediately under a three character code title to further define, or give examples of, the content of the category.
- Inclusion terms - List of terms is included under some codes. These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
- NEC "Not elsewhere classifiable" - This abbreviation in the Alphabetic Index represents "other specified". When a specific code is not available for a condition, the Alphabetic Index directs the coder to the "other specified” code in the Tabular List.
- NOS "Not otherwise specified" - This abbreviation is the equivalent of unspecified.
- See - The "see" instruction following a main term in the Alphabetic Index indicates that another term should be referenced. It is necessary to go to the main term referenced with the "see" note to locate the correct code.
- See Also - A "see also" instruction following a main term in the Alphabetic Index instructs that there is another main term that may also be referenced that may provide additional Alphabetic Index entries that may be useful. It is not necessary to follow the "see also" note when the original main term provides the necessary code.
- 7th Characters - Certain ICD-10-CM categories have applicable 7th characters. The applicable 7th character is required for all codes within the category, or as the notes in the Tabular List instruct. The 7th character must always be the 7th character in the data field. If a code that requires a 7th character is not 6 characters, a placeholder X must be used to fill in the empty characters.
- With - The word "with" should be interpreted to mean "associated with" or "due to" when it appears in a code title, the Alphabetic Index, or an instructional note in the Tabular List. The word "with" in the Alphabetic Index is sequenced immediately following the main term, not in alphabetical order.