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Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
Some minor anomalies may be clues to more significant internal abnormalities. [citation needed] Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; ... List of ICD-9 codes 740–759: congenital anomalies; Rare disease
The anomaly scan, also sometimes called the anatomy scan, 20-week ultrasound, or level 2 ultrasound, evaluates anatomic structures of the fetus, placenta, and maternal pelvic organs. This scan is an important and common component of routine prenatal care . [ 1 ]
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below).This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
Congenital anomaly (birth defect), a disorder present at birth Physical anomaly, a deformation of an anatomical structure Congenital vertebral anomaly, any of several malformations of the spine; Collie eye anomaly, eye disease of dogs; Coronary artery anomaly, a congenital abnormality in the heart; Ebstein's anomaly, a congenital heart defect
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
Sonographic evaluation of the fetus is done to identify fetal anomalies, aneuploidy, fetal growth restriction, or placental abnormalities. The National Institute of Health recommends detailed documentation of certain fetal organs that are most likely to be involved such as the kidneys, bladder, and the umbilical cord.