Congenital Birth Defects Essay

Congenital Birth Defects Essay

Length: 2337 words (6.7 double-spaced pages)

Rating: Powerful Essays

Open Document

Essay Preview

1.1 Congenital Birth Defects

Birth defects, congenital abnormalities are terms used to describe developmental defects that are present at birth. There are a lot of genetic and environmental interactions in the complex transition from a fertilised ovum to a fully formed human being. The stage of development that the interactions are affected influences the type of birth defects. Birth defect causes can be divided into two types, genetic and environmental causes. There are also birth defects which are caused due to multifactorial inheritance (George, 2007).

Genetic causes of birth defects

It has been estimated that 25% of all birth defects are caused due to genetic factors and out of these 85% causes are known (Brent, 2004). Birth defects can be caused due to chromosomal aberrations, mutations in single genes and interactions of both environmental and genetic factors. Chromosomal aberrations are seen frequently as the complex mechanisms such as meiosis or mitosis are prone to error. Another frequent causative factor of multiple birth defects is chromosomal aneuploidy (loss or gain of whole chromosome). Multiple congenital anomaly syndromes are caused due to single gene defects (Prescott, 2001).

Chromosomal abnormalities

They may be numerical or structural and are important causes of approximately 5-6% of all birth defects (Young, 2005). These abnormalities may arise newly or maybe inherited from a parent with same chromosomal aberration. Numerical abnormalities are caused due to any deviation from the human diploid number of 46 chromosomes which is called chromosomal aneuploidy. This leads to multiple birth defects as it disturbs the action of multiple genes. Usually, numerical chromosomal abnormalities are resu...


... middle of paper ...


...Synthetic lethality does indicate that when two genes have the same role and mutation occurs in them both making them non-functional only then it results in lethality. Moreover when both the genes have the same function in the pathway, each mutation in the genes diminishes the function of the pathway.

Even though genome sequencing of mouse and humans are completed the function of a major part of the genomes are still unknown. An effective way to discover the gene function is by determining the consequence of mutations in organisms. This study focuses on congenital birth defects by studying the mutations in mouse genome causing developmental abnormalities which serve as models for human congenital birth defects. In this study an attempt is made to identify the genes that cause developmental defects and lethality thus aids the study of congenital birth defects.

Need Writing Help?

Get feedback on grammar, clarity, concision and logic instantly.

Check your paper »

Essay on Birth Defects and the Millennum Development Goals

- ... A teratogen is any substance that can cause or increase the chance of a birth defect. Examples include radiation (including x-rays), certain drugs, and toxins (including alcohol). Most pregnant women who are exposed to teratogens have newborns withabnormalities. Whether or not a birth defect occurs depends on when, how much, and how long the pregnant woman was exposed to the teratogen. For example, exposure to a teratogen during the time that certain parts of the brain are developing is more likely to cause a defect in those areas than exposure before or after this critical period....   [tags: nations, mortality, maternal, health]

Powerful Essays
2186 words (6.2 pages)

Birth Defects Essay

- Birth defects, or congenital malformations, are the faulty formation of structures or body parts present at birth. Sporadic, hereditary, or acquired defects may be immediately observed or may become manifest later in life; they may be visible on the body surface or present internally. Birth defects may be life threatening and require surgical correction, or they may interfere with function or appearance. It is estimated that about 3% of all children are born with major defects; minor defects or variations are estimated to occur in 10% to 15% of births....   [tags: essays research papers fc]

Powerful Essays
845 words (2.4 pages)

Essay about Parents and Children with Birth Defects: Down Syndrome

- Down Syndrome Every parent claims that they will console their newborn with love and affection under any conditions. But inspite of what they may say, they are still worried. After all, there have been several situations with birth defects that have caused years of frusturation and difficulties. No parent wishes for their own child to be born with a genetic mutation, but even as this is true, several children are born with it. “Down syndrome, which is a genetic condition, occurs in one in every 691 births”(Laney 5)....   [tags: chromosome 21, genetic mutation]

Powerful Essays
944 words (2.7 pages)

Healthy People 2020: Congenital Heart Disease Essay

- In 2004 like most expectant mothers, I was excited and nervous as to what the future held for my family. Would my baby girl healthy or would she be born like me with a congenital heart defect. As an adult living with such a chronic disease, I knew what that entailed; a lifetime faced with numerous hospital visits, surgeries and procedures. Thankfully she was healthy and strong, but many mothers are not as fortunate. Congenital heart defects or diseases (CHD) are defined as “conditions that are present at birth and can affect the structure of a baby’s heart and the way it works (“Mortality From,” 2011).” These defects range from mild to severe and impact the infant’s blood flow through hear...   [tags: maternal, infant and child health ]

Powerful Essays
1167 words (3.3 pages)

Federal Baby Doll Rule Essay

- ... If parents or physicians decide to withhold treatment when the exceptions are not met, the parents and/or physicians can be held accountable for medical neglect. In 1988, “Baby Doe” Rules came into effect. “The term withholding of medically indicated treatment means the failure to respond to the infants life-threatening conditions by providing treatment which, in the treating physician’s reasonable medical judgment, will be most likely to be effective in ameliorating or correcting all such conditions, except that the term does not include the failure to provide treatment to an infant when, in the treating physician’s reasonable medical judgment any of the following circumstances apply” (...   [tags: newborn, congenital defects, baby]

Powerful Essays
1161 words (3.3 pages)

Birth Defects Essay

- Birth Defects No one is immune to birth defects, yet not everyone is equally susceptible. Birth defects are not merely a medical problem. They have profound effects on the social and psychological well being of their family and friends. In the normal course of fetal development, cells migrate to their appropriate destination so that organs and limbs form where they should. Usually, the genes perform flawlessly, but mistakes can and do occur. Some of the most common birth defects results from the interaction between one or two abnormal genes out of 100,000 that make up who we are....   [tags: essays research papers]

Powerful Essays
2440 words (7 pages)

Essay on Symptoms And Treatment Of Congenital Heart Defect

- Trailer: How did a healthy person,who ate right, exercise daily and also followed all the right steps in carrying a pregnancy still end up with a baby with congenital heart defect. How did a mother who has been able to carry two previous pregnancies, successfully to a full term still have a child with CHD. Was it something she did or something she didn 't do. Introduction: Congenital heart defect is also known as Congenital cardiovascular malformation, which is the abnormal problems associated with the structure of the heart during birth....   [tags: Heart, Blood, Artery, Vein]

Powerful Essays
809 words (2.3 pages)

Symptoms And Treatment Of Congenital Heart Defect Essay example

- How did a healthy person,who ate right, exercise daily and also followed all the right steps in carrying a pregnancy still end up with a baby with congenital heart defect. How did a mother who has been able to carry two previous pregnancies, successfully to a full term still have a child with CHD. Was it something she did or something she didn 't do. Introduction: Congenital heart defect is also known as Congenital cardiovascular malformation is the abnormal problems associated with structure of the heart during birth....   [tags: Heart, Blood, Artery, Vein]

Powerful Essays
739 words (2.1 pages)

Prognosis for Infants and Children with Tetralogy of Fallow Essay

- ... Nursing considerations involves awareness that something as simple as crying, bottle, and breast feeding increases cyanosis and oxygen deprivation. These infants are often born with acute cyanosis. Within the initial assessment after birth, these infants may have a pronounced murmur. They also have hypercyanotic episodes known as “tet spells” because it is seen in infants with Tetralogy of Fallow. This happens when the infants oxygen demands exceeds the blood supply Cyanosis may be present during feeding and these infants need time to learn how to suck, swallow, and breathe simultaneously....   [tags: congenital heart disease]

Powerful Essays
1708 words (4.9 pages)

Essay on The Effect of Neural Tube Defects on Healthcare

- According to the Encyclopædia Britannica (2014), a neural tube defect is “any congenital defect of the brain and spinal cord as a result of abnormal development of the neural tube.” This birth defect is “the most common congenital defect of the central nervous system, affecting the brain and/or spinal cord of 300,000 newborns worldwide each year” (Ricks et al., 2012, p. 391). The exact cause of these central nervous system defects is unknown, but there are many contributing factors that are evidenced to assist in the prevention of such a disorder....   [tags: health, brain, spinal cord]

Powerful Essays
1232 words (3.5 pages)