Congenital Anomalies

Congenital anomaly is one of the main causes of physical disabilities, stillbirths and neonatal deaths. Congenital anomalies, moreover commonly referred to as birth defects, congenital disorders, congenital malformations, or congenital variations from the norm, are conditions of prenatal origin that are displayed at birth, possibly affecting an infant's well-being, development and/or survival. Congenital inconsistencies shift significantly in severity. A few congenital irregularities are related to spontaneous abortion, stillbirth, or death within the early postnatal period. Congenital anomalies are a driving cause of death among new-born children around the world, and hereditary factors play a major part in most of the cases. One of the biggest hereditary studies to be carried out in children has fair revealed 14 new qualities responsible for the developmental disorder.

Causes and risk factors

There are approximately 50% of all inherent anomalies cannot be connected to a particular cause, there are a few known hereditary, environmental and other causes or risk factors. However, given that most developmental disorders are exceptionally uncommon; numerous more pathogenic variations stay unknown. The Deciphering Developmental Disorders (DDD) study aimed to recognize developmental disorders in children and utilize genomic advances to progress diagnosing.

Prevention

Preventive public wellbeing measures work to diminish the frequency of certain congenital anomalies through the removal of risk components or the reinforcement of protective components. Important preventions are:

<>ensuring adolescent girls and mothers have a healthy diet including a wide variety of vegetables and fruit, and maintain a healthy weight; avoid harmful substances, particularly alcohol and tobacco

<>also avoidance of travel by pregnant women (and sometimes women of child-bearing age) to regions experiencing outbreaks of infections known to be associated with congenital anomalies;

<>vaccination, especially against the rubella virus, for children and women and many more.

Detection

Health care before and around the time of conception (preconception and peri-conception) includes basic reproductive health practices, as well as medical genetic screening and counseling. Screening can be conducted during the 3 periods listed:

<> Preconception screening can be useful to distinguish those at risk for specific disorders or at risk of passing a disorder onto their children.

<>Peri-conception screening: maternal characteristics may increase risk, and screening results should be used to offer appropriate care, according to risk.

<> Neonatal screening incorporates clinical examination and screening for disorders of the blood, metabolism and hormone production.

Treatment and care

Many structural congenital anomalies can be adjusted with pediatric surgery and early treatment can be managed to children with functional problems such as thalassemia,  sickle cell disorders, and congenital hypothyroidism (diminished work of the thyroid).