Congenital Diseases and Disorders Essay

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Common reasons for congenial disorder are genetic defects, the intrauterine conditions and several unraveled reasons (WHO, 2005). Even after best prenatal care, still or defective child can be borne. Many genetic diseases are connected by a single gene, like cystic fibrosis, hemophilia, and haemoglobiopathies. Environmental (womb) factors contribute to the genetic defects, and lead to congenial malformations which can be detectable pre-birth.

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These are neural tube defect, cleft lip and palate and some chronic non-communicable disorders. Hemophilia is associated with X (sex)-chromosome, for which female is a carrier and only expressed in males, while most of the others are linked to non-sex-related autosomal defects shown up both in males and females. Worldwide, about 7.6 m children are borne with congenial genetic defects. Mainly the consanguineous marriages (leading to inbreeding) and late marriages are the causes of the defects.

Apart from education, social reforms the genetic counseling and population genetic screenings are the best preventive practices. With the advent of human genome project, it has been possible to recognize the genetic defects before conceiving using advanced DNA techniques like Restriction Fragment Length Polymorphism, for which the DNA markers specific for the genes are used to locate the defective genes in chromosomal fragments.

Iatrogenic conditions deal with harmful effect of diagnosis and therapeutic procedures, leading to splitting, anxiety, depression, and morbidity. Special care should be taken to deal with these problems. Iatrogenic conditions also relate to organ damage. One example is Gastric Perforation in preterm infant due to insertion of naso-gastric catheter, either while using a ventilator or feeding tube. Such therapeutic negligence accounts for mortality due to pulmonary damage (pneumatosis) (Parasuraman, 2007).

Effective management includes early diagnosis by laparotomy and surgical repair, followed by prolong antibiotic treatment in the infant. However, preventive steps could have averted the situation. Another example of iatrogenic condition is related to iron deficiency during perinatal period (Rao, 2007). This affects growth and functioning of heart, gastrointestinal system, skeletal muscle, central nervous system and brain, and can even caused immune deficiencies. Premature, under-weighed and complicated birth are the consequence of prolong iron deficiency.

Excess of iron nutrition due to multiple RBC transfusions, is also prenatal congenial conditions seriously damaging the liver, pancreas, myocardium and pharynx. Effective management of iron dynamics during gestation include, oral iron supplementation, delayed clamping of umbilical cord, controlling diabetes mellitus and hypertension, avoidance of smoking. Intrauterine defects growth restrictions and fetofatal umbilical cord accidents are also the consequent problems.

Iron overload is even more dangerous and in acute conditions, hepatic transplant, and cardio-pulmonary bypass are the remedies left. In conclusion, the prenatal congenial problems can arise from both genetic reasons and due to iatrogenic conditions during gestation. These defects can be largely avoided by modern research of screening the parents for genetic lesions, and for deficiencies in iron or other nutrients. Educating proper handling of instruments, post natal care and physical and mental care for the parents would also be necessary.

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References

Parasuraman, Deepak, Rahul Roy, and Simon Mitchell. “Iatrogenic Gastric Perforation in a preterm infant: Clinical Presentation and radiological indicators.” The Internet Journal of Pediatrics and Neonatology 7.1 (2007).

Rao, Raghavendra and Michael K. Georgieff. “Iron in fetal and neonatal nutrition.” Semin Fetal Neonatal Medicine 12.1 (2007): 54–63.

World Health Organization. Control of genetic diseases-Report by the secretariat. EB116/3, 2005.

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IvyPanda. 2021. "Congenital Diseases and Disorders." September 28, 2021. https://ivypanda.com/essays/congenital-diseases-and-disorders/.

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IvyPanda. "Congenital Diseases and Disorders." September 28, 2021. https://ivypanda.com/essays/congenital-diseases-and-disorders/.

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