Congenital disorders are medical conditions that are present at birth or before birth. They are also referred to as birth defects and can be acquired from the genetic makeup of the parents or during the fetal stage of development. They can also be defined as functional or structural anomalies including metabolic disorders that are normally present at the time of birth. Most of the congenital disorders are generic in nature and their severity depends on their specific nature. In some cases for instance, the condition may seem not manifest until later years in life while in other cases, the condition is incompatible with life. Congenital disorders being generic in nature means that they may be passed down from both or one parent or possibly, they could be caused by errors in the replication of chromosomes which are responsible for spontaneous genetic mutations. Notably, congenital disorders may be caused by infections probably at some point in pregnancy.
Causes
Congenital defects are caused by:
- Genetics
Most congenital disorders occur periodically as a single isolated case within a family, malformations are a good example. It is estimated that 270, 000 newborns die precisely during the first 28 days of life each year from congenital disorders. The same intermittent occurrences in hereditary disease could be because the family size is very small or because the disorder seems to characterize a new mutation, occurring from the very first time in the female or male germ cell and leading to the formation of the affected child. The majority of the chromosome abnormalities represents sporadic occurrences and precisely in cases of chromosomes 13, 18, or 21 where there is a well-built connection with advancing maternal age. Most of the inborn metabolism errors occur from mutations that are inherited in maternal mitochondrial DNA. Parental defects particularly in the constraint of gene expression cause genomic imprinting, defects which result in anomalous expression of paternal and maternal alleles and disruption of embryonic development. Also, autosomal recessive disorders (disorders that are inherited from both parents), every parent carries a mutated copy (allele) of the specific gene. Seemingly, the similar chance of disorder applies at every conception in spite of the outcome of preceding pregnancies (Timby 53). Fetal alcohol syndromes which basically are environmentally caused disorders are presumably preventable.
- Environment
Environmental causes of congenital disorders include; exposure to radiation and illnesses and drugs which can be identified in about 10% of all birth defects.
- Physical Factors (Including Radiation)
Radiations and X-rays given as cancer therapy can to a great extent affect the baby. Using proper shielding, X-rays can be given to other parts of the body particularly during pregnancy, in emergency cases.
- Other factors
Arguably, the exact causes of the 65% of defects at present are unclear. Most of these defects arise from the interplay of environmental and genetic factors for instance; some kids could have a genetic susceptibility to particular environmental factors. If these children are exposed to these factors during development, subsequently, they could develop an abnormality. On the contrary, if they are not at one point exposed to the factor, they will be perfectly normal. Notably, the Human Genome Projects have seemingly worked out a normal progression of all genes found in people.
- Unknown Causes
Majority of congenital disorders has no known cause. Subsequently, this situation is challenging and is particularly troubling for parents who prepare to have more children since there is no means of predicting if the problem could recur.
Signs and Symptoms
- Reduced muscle tone
- Low oxygen levels and chest pain
- Trouble breathing or breathlessness
- Small birth weight
- Bluish lips, toes, fingers and skin
- Liver disease
- Failure to thrive
- Developmental delay
- Abnormal blood coagulation (Seizure, dysarthria, crossed-eyes, underdeveloped cerebellum)
- Lack of puberty in females
- Physiological or mental retardation
- Hypoglycemia (McKinney 1013).
Prevention
Preventive public measures that are administered through parental health care services and pre- and peri-conception care services greatly decrease the frequency of some congenital anomalies. Prevention of congenital disorders involves:
- Improving diet – Improving women’s diet throughout their reproductive years while ensuring good dietary intake of minerals such as; iodine and folic and vitamins. It is also coherent to restrict substances that are harmful to the body, especially the abuse of alcohol.
- Avoiding exposure to injurious environmental substances such as pesticides, heavy metals and some medicinal drugs) during pregnancy.
- Strengthening and increasing education to members of staff and other persons interested in promoting birth defects prevention
- Improving vaccination coverage with rubella virus for women and children. Rubella vaccine can be given one month before pregnancy to women with low immunity.
Detection
- Pre- and peri-conceptional care should include medical genetic screening and basic reproductive health practices. Screening can therefore be conducted during these periods:
- Antenatal screening includes; screening for Rhesus blood group incompatibility, advanced maternal age and carrier screening. Also, ultrasound may be used for detecting Down syndrome during serious fetal anomalies precisely at the second semester and during the first trimester.
- Preconception screening is distinctively used to identify persons at risk for passing one disorder to their children or passing specific disorders. This approach involves the use of carrier screening, family history and certain valuable in nations where consanguineous marriages are common.
- Screening for new born babies includes screening for hormonal, hematologic and metabolic disorders and clinical examination as well.
Treatment
Treat for congenital disorders, depends on the type and the severity of the defect. For instance, some babies have mild heart disorders that could heal with time on their own. Some may require surgery while others may need to be treated with medication. Most testing for congenital disorders is performed on a young child or an infant. However, if the fetus seems to be at increased risk for a prenatal exam or at risk for congenital heart disease, testing should begin early enough precisely in the fifth month of pregnancy. A thorough medical history and a physical exam are important to the diagnosis of congenital heart.
- Care and Treatment
Countries with well-established health services can correct structural birth defects with early treatment and pediatric surgery to children with functional problems such as sickle cell disorders, thalassaemia and congenital hypothyroidism (Ferrell 989).
Surgery for Congenital Disorders
The purpose of surgery is mainly to maximize and correct the physical the physical formation of the functionality of the child to prevent formation of neurological deficits. Different surgeons have different methods for treating these disorders which include:
- Decompression
- Shrinking the cerebellar tonsils, that could be blocking the flow of spinal fluid
- Decompressing with duraplasty (involves opening the dura, a thick membrane covering the heart).
Works Cited
Timby, Barbara K. Fundamental Nursing Skills and Concepts. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins, 2009. Print.
McKinney, Emily S. Maternal-child Nursing. St. Louis: Elsevier/Saunders, 2013. Print.
Ferrell, Betty, and Nessa Coyle. Oxford Textbook of Palliative Nursing. New York: Oxford University Press, 2010. Print.
