Aspects of Genetic Diseases

Topic: Pediatrics
Words: 917 Pages: 3

The birth of a child with congenital developmental defects always stuns the family; this topic is one of the most difficult in obstetrics. The detection of congenital anomalies in a child leads to the fact that parents experience pain and suffering, which later transform into a sense of guilt. They begin to convince themselves and each other that they will never be able to have healthy offspring. Currently, the environment is developing negatively and has a significant impact on the development of various diseases in the world’s population. Subsequently, the negative impact affects the health of men and women, as well as the fetus. Various dysmorphologies and congenital disorders are hereditary and transmitted from parents to children. Although there are multiple types of treatment for hereditary diseases, they still have a place in the life of some people.

Congenital anomalies can be determined by functional disorders that occur during the intrauterine presence of the fetus and can manifest themselves at birth and later. Dysmorphology is the study of congenital malformations that change the shape of one or more parts of the newborn’s body (Hurst & Robin, 2020). Some healthy person has several damaged genes, but they do not disrupt the functions of cells and do not lead to disease since they are non-manifest. From various hereditary defects, it is necessary to distinguish a relatively common chromosomal disease – Down syndrome, in which the characteristic appearance of the child indicates his physical and mental retardation. A pregnant woman’s endocrine and hormonal pathologies, injuries while carrying a child, lack of water, and viral diseases. Moreover, the intoxication of the body with chemicals, taking antidepressants, antibiotics, and anticonvulsants, by the expectant mother leads to deviations in the intrauterine development of the fetus.

The delay of sexual development occurring in girls, deviations in intellectual development, and emotional instability are signs of a congenital anomaly. One of the congenital diseases is Turner syndrome, which is a genetic illness that affects only women. Dabrowski et al. (2019) state that Turner syndrome is a chromosomal disease that exclusively affects women with one X chromosome and a complete or partial absence of the second sex chromosome. It is accompanied by anomalies of physical development, stunting, and lagging in sexual and mental development. The primary germ cells in the embryo are laid in a typical composition, but in the second half of pregnancy, they undergo reverse development. And by the time the child is born, the number of follicles in the ovary is sharply reduced or reduced to zero. This is the cause of many abnormalities, including primary amenorrhea and infertility.

Major abnormalities and minor both describe different degrees of the disease in humans. Prior et al. (2018) claim that anomalies that affect a child’s life expectancy, health status, and physical or social functioning can be described as “major” anomalies. Early diagnosis of a child’s diseases is essential, as it will help to start premature or timely treatment for potential anomalies. Minor anomalies are those disorders that cause minimal harm or do not harm the body at all (Prior et al., 2018). The difference is that serious deviations are signs of more critical problems of the body and conditions, and minor ones are less complex and dangerous.

One of the diseases associated with a congenital anomaly is Joubert syndrome. This disease is related to an abnormality of the cerebellum and brain stem. Subsequently, a person shows developmental delay, typical eye movements, and apnea. In addition, a person develops side kidney diseases, liver fibrosis, and retinal dystrophy. If adults are diagnosed with this disease, it is almost impossible to have children in this case. This is because this disease can be transmitted from parent to child.

The nursing staff is seen as a real force capable of meeting the growing needs for affordable medical care. There are new types of assistance associated with diseases or pathological conditions and the problems of preserving and maintaining individual and public health. Many health problems are related to the lifestyle and habits of the family; people need advice on the prevention of diseases and a healthy lifestyle. A healthy start to life, most likely, can be provided in a healthy family; it creates the foundation for good health throughout life. The role of a nurse in preventive measures determines the presence of harmful stress factors or other harmful effects on health and takes active steps to prevent their impact on the health of the family. Thanks to the knowledge about the family and trusting relationships with family members, the nurse will be able to identify the patient’s health problems at the earliest stage of their formation and facilitate the adoption of urgent measures.

In conclusion, congenital anomalies are dangerous and can harm the whole life of children. To exclude the possibility of an abnormality in a child, parents need to undergo a thorough examination for the presence of various syndromes and diseases. In addition, adults need to find out whether there were any congenital anomalies in their parents to check for the presence of these diseases in themselves. Dysmorphology is engaged in the study of such conditions. It is better to apply for the final medical and genetic consultation about the forecast for the future in 2-3 months when the psychological tension will subside, and the spouses will be able to perceive this kind of information more objectively. For most families, subsequent pregnancies are successful. The possibilities of prenatal diagnostics add confidence in a successful outcome for both doctors and patients.


Dabrowski, E., Jensen, R., Johnson, E., Habiby, R., Brickman, W., & Finlayson, C. (2019). Turner syndrome systematic review: Spontaneous thelarche and menarche stratified by karyotype. Hormone Research in Paediatrics, 92(1), 143-149.

Hurst, A., & Robin, N. (2020). Dysmorphology in the era of genomic diagnosis. Journal of Personalized Medicine, 10(1), 1-18.

Prior, M., Richardson, A., Asif, S., Polanski, L., Parris-Larkin, M., Chandler, J., Fogg, L., Jassal, P., Thornton, J., & Raine-Fenning, J. (2018). Outcome of assisted reproduction in women with congenital uterine anomalies: a prospective observational study. Ultrasound Obstetrics Gynecology, 51(1), 110-117.

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