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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
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 cardiac anomalies including pulmonary artery stenosis and patent ductus arteriosus can be seen in infants with CRS. Infants should undergo cardiac evaluation soon after birth and those with confirmed cardiac lesions will require specialized care with a pediatric cardiologist for any interventions and follow-up care. [4]
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. [2]
Management includes supportive care and treatment of hyperkeratosis and skin barrier dysfunction. A humidified incubator is generally used. Intubation is often required until nares are present. Nutritional support with tube feeding is essential until eclabium resolves and infants can begin nursing.
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 ]