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Chromosome 16 abnormalities; ... Spina bifida; Stickler Syndrome; ... deformations and chromosomal abnormalities; List of ICD-9 codes 740–759: congenital anomalies ...
The most frequently seen form of spina bifida occulta is when parts of the bones of the spine, called the spinous process, and the neural arch appear abnormal on a radiogram, without involvement of the spinal cord and spinal nerves. [21] The risk of recurrence in those who have a first degree relative (a parent or sibling) is 5–10 times ...
Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/, [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q90-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.
For example, a lack of folic acid, a B vitamin, in the diet of a mother can cause cellular neural tube deformities that result in spina bifida. Congenital disorders such as a neural tube deformity can be prevented by 72% if the mother consumes 4 mg of folic acid before the conception and after twelve weeks of pregnancy. [70]
Congenital heart defects, hydronephrosis, omphalocele and meningocele (spina bifida) are also common. Cystic hygromas occur but are uncommon. [citation needed] Triploid fetuses have intrauterine growth restriction beginning early in the pregnancy, as early as 12 weeks, and does not affect the head as severely as the body.
Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome.
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...