Potent Birth Defects - Essay Example

? Birth Defects Formation of a baby after conception is the most amazing act of nature. Advances in medical sciences in last hundred years or so haveunfolded the intricacies of human birth to a great extent; however, one cannot ignore the fact that one in every 80 babies is born with some kind of a birth defect. The paper aims at exploring some of the potent birth defects that are plaguing the mankind; probable causes behind these birth defects and the measures that can be applied to prevent the birth defects in newborns. Current Scenario in the UK Smith (2011) argues that one in 80 babies suffers some kind of a birth defect in the UK such as Down's syndrome or neural tube defects such as spina bifida or congenital heart disease. The surprising part is that the proportion of birth defects in the newborns has almost doubled from the previous estimate. The rise in numbers is purely attributed to a better data collection system and nothing else. In 2009, there were, as per the researchers’ estimate, 14,500 babies with some sort of birth defects in England and Wales. By the way, London had the highest cases of Down's syndrome (34 per 10,000 children) then among major towns. Heart disorder is found to be the most common birth defect among the newborns in the UK needing surgery. At least six percent of newborns with heart disease are not likely to survive. Spina bifida or neural tube defects are found in at least one in 1,000 babies and doctors say that the birth defects could have been simply prevented if mothers were given folic acid in adequate quantity during pregnancy. Similarly, cleft lip or palate is found to be in 15.2 babies per 10,000; Edwards’ syndrome in seven per 10,000 and Patau’s syndrome in two per 10,000 babies of England and Wales. At least, 50 percent of the defects were detected during pregnancy itself. It is noteworthy that numbers of birth defects due to Down's syndrome are increasing perhaps due to pregnancy incidents at higher age (Smith, 2011). Birth Defects due to External Agents Chiras (2012) emphasises that most birth defects are caused due to some sort of chemical, physical or biological agents. Dietary deficiency of folic acid also plays a pivotal role in birth defects. The time of exposure to any of these agents play a crucial role in causing a birth-defect. Organ systems are the most affected parts due to the exposure to any of harmful agent. The central nervous system is more at risk because it starts developing during the third week of pregnancy – a time when woman is not even aware that she is pregnant. Women in the habit of consuming alcohol or drugs are most likely to harm central nervous system, heart, limbs and eyes of the baby as these organs start developing as early as third week of pregnancy. Birth Defect Classifications Broadly, birth defects can be classified into two kinds: Functional and Structural. Functional birth defect relates with the abnormal functioning of some body part. Mental retardation, learning disabilities, speech difficulties are the brain defects that indicate about the functional impairment. Examples of birth defects pertaining to nervous system include Down’s syndrome, autism, and Fragile X syndrome. Metabolic disorders such as phynylketonuria (PKU) or hypothyroidism are examples of functional disorder. Cleft lip or palate, spina bifida are the examples of Structural birth defects. Missing heart valve, abnormal limbs such as a club foot also fall in this category. Some of the birth defects that follow will explain how they impair body’s normal functioning and learning abilities. Down’s syndrome Down's syndrome is a congenital disorder impacting physical and mental growth of the child. The children with Down's syndrome are also found to be impacted with high incidence of heart disease, hearing or vision issues, Alzheimer's disease. Down's syndrome is found more in boys (by 15%) than girls. More incidences of Down' syndrome is noticed at the places where mothers give births at higher age. Mother with age 45 or above carries the greatest (1 in 30) risk of giving birth to a baby with Down’s syndrome. Babies with Down's syndrome are most prone during the first year of their birth as it is estimated that around 15% of such children die during that time mostly due to congenital heart issues (Down's syndrome, 2012). Causes of Down's syndrome and Preventive Measures It is a genetic condition in the sense that chromosome 21 is responsible in developing Down's syndrome. It is the extra copy of chromosome 21 in the cells of baby that does not allow the proper development of some parts of the body. Though it is the smallest amongst all to contain the genetic material from the available chromosomes, it is responsible for the development of heart, brain and the metabolic functions. It is not properly understood why some children are born with abnormal copies of chromosomes that causes Down's syndrome. Age being a major risk factor, the woman in age group of 15-29 carries a minimal risk (1 in 1500) of giving birth to the baby with Down’s syndrome; however, the risk increases with age and at age 45 and above the risk increases to 1 in 30 (Causes of Down's syndrome, 2012). Environmental Causes It has been found that above average number of cases of Down's syndrome do occur in one geographical area such as town, city or region. Researchers believe that certain environmental factors might be behind higher incidents of Down's syndrome. The environmental causes may be many such as exposure to viruses or some kinds of infection during pregnancy, smoking tendency, exposure to pesticide or radiation, and oral contraceptive practices, yet nothing can be said concretely for the high level of incidents in a particular geographic location as such (Causes of Down's syndrome, 2012). Spina Bifida Spina bifida is the neural tube disorder in which the vertebral portion of the spinal column is either missing or not formed completely. The defect is mostly found in the lumbar region. Spina bifida occurs during early stages of pregnancy. Epidemiologically, the disorder is found more in girls. In 2008, 1.3 cases of spina bifida per 10,000 births were found in England and Wales (Spina bifida, 2012). Spina Bifida – Causes and Prevention Genetic causes coupled with environmental reasons have been suggested for spina bifida birth defect. Absence of folic acid in mother's diet during days 17-30 of pregnancy is one of the major causes behind this birth defect. This is the period when neural tube formation takes place. Increasing folic acid intake to a mother's diet during early stage of pregnancy has been found to reduce the incidents significantly. Moreover, it has also been observed that Down's, Patau's or Edwards' syndrome have some kind of association with neural tube defects. Alcohol exposure or diabetes in mother is said to be the major cause for development of spina bifida in baby. Use of Sodium valproate and carbamazepine by mother during early stage of pregnancy may also cause spina bifida in the baby (Spina bifida, 2012). Edward’s Syndrome The disorder, also known as trisomy 18, occurs purely due to genetic malformation. When three copies of chromosome 18, instead of two, develop in each cell of the body then the baby gets affected through this birth defect. The extra genetic material disrupts the normal development of the body. Babies with Edward’s syndrome may have kidney and heart issues. They may have breathing problems and often found to have severe learning disability. Baby with Edward’s syndrome is mostly stillborn or miscarried. If born alive, a third of them will die within 30 days of birth because of severe medical issues. Only around 10% of the babies with this syndrome may survive after one year. The disorder occurs more in girls than boys. A noteworthy aspect is that trisomy 18 occurs purely through a random possibility– due to error in the division of cells and that is why it does not run in family. There can be full or partial trisomy 18 depending upon how many cells of the body have the extra copy of chromosome 18. That means severity will largely depend upon the amount of the body cells affected due to faulty genetic formation. Babies those are mildly affected may survive until adulthood. Edwards' syndrome can be detected during ultrasound scan while ascertaining normalcy of the pregnancy. As such, there is no cure for Edward’s syndrome. Chances of its occurrence go up with the age of mother at the time of baby's birth (Edward’s syndrome, 2012). Patau's Syndrome Patau's syndrome, also called trisomy 13, is a chromosomal abnormality just like Down's and Edward's syndrome. When baby's body cells carry three copies of chromosome 13, the baby gets affected with this congenital abnormality. Babies with complete trisomy 13 cannot survive while the baby with partial trisomy 13 may survive until adulthood. About 1 in every 21,700 births is found to be affected with this disorder. The woman giving birth at higher age has enhanced chances of having a baby with this kind of birth defect but not as much as found to be with Down’s or Edward’s syndrome. As such, there is no treatment for trisomy 13 too. As in case of Down’s or Edward’s syndromes, Patau's syndrome too does not have any genetic affiliation to run in the family (Patau’s syndrome, 2012). Autism Autism is lifelong disability affecting person’s ability to communicate. Schendel et al (2009) argue that birth defects are noticed in 6 percent of the children affected with autism. Research findings indicate that boys with autism are more affected with birth defects than girls. Researchers emphasise that the investigation needs to be carried out for the likely association between birth defects and autism. Congenital Hypothyroidism Congenital hypothyroidism is the metabolic disorder and leads to neurodevelopment impairment in the baby. As per the research report from Johns Hopkins, babies born of women suffering from thyroid disease have more chances to get impacted from kidney, heart or brain defects in spite of having a normal thyroid functioning of the mother during pregnancy. The study further reveals that woman who suffers from either underactive or overactive thyroid disorder is likely to give birth to the baby with some kind of anomalies such as cleft lip or extra fingers. Babies born to such women may also get impacted by increased chances of cardiac issues (Wolfberg). Congenital Scoliosis This is also known as curvature of the spine – a kind of birth defect found in the spine. In one of the kinds of Scoliosis, three to four vertebrae are fused together behaving like a unilateral bar causing unequal growth of the spine – one side grows more compared to the other. The defect occurs at very early stage (in the first 6 weeks) of pregnancy; however, no genetic linkages have been found in this disorder. It has been found that congenital scoliosis usually occurs more in girls than in boys. It is not seen at birth unless an X-ray is taken for some other diagnosis. Since formations of heart, kidney and vertebrae take place at the same time, children having scoliosis may also suffer from some kind of heart or kidney malfunctioning (Congenital Scoliosis 2012). Observation and Conclusion It is encouraging to note that the NHS Fetal Anomaly Screening Programme was established in 2003 under the auspices of Department of Health. The programme aimed at establishing standards and implementing screening for all women in England. All women are offered two ultrasound scans. The first one is taken after 8 weeks of conception and the second one is performed between 18 and 20 weeks of gestation to identify for any structural and chromosomal anomalies. It is to be understood that there is little possibility to treat, cure or amend congenital defects in the baby. Only possibility that lies with the humans is to take necessary precautions during and before pregnancy stage so as to avoid its occurrence to the maximum extent possible. Ultrasound scanning done during 18-20 week of pregnancy as organised by NHS can help detect possible birth defect and suggest termination of pregnancy. Medical science cannot completely eliminate nature's doing but can reduce the incidents to a great extent. With the advancement of genetic engineering and understanding its complicated processes, it will be possible perhaps in the future to reduce congenital anomalies that are purely attributed to chromosomal causes. It becomes necessary on part of the authorities to educate masses why extreme precaution and care is necessary during pregnancy stage so as to avoid agony after birth of baby. References Causes of Down's syndrome, (2012). NHS Choices. [Online] Available from http://www.nhs.uk/Conditions/Downs-syndrome/Pages/Causes.aspx [Accessed 25 December 2012] Chiras, D. D. (2012). Human Biology. 7th ed. Jones & Bartlett Learning International, London. Congenital Anomaly Statistics 2010. The NHS Fetal Anomaly Screening Programme in England. July 2012. [Online] Available from http://www.binocar.org/content/Annual%20report%202010%20FINAL%2031_07_12.pdf [Accessed 25 December 2012] Congenital Scoliosis (2012). Scoliosis Association (UK). [Online] Available from http://www.sauk.org.uk/uploads/Congenital%20scoliosis.pdf [Accessed 25 December 2012] Down's syndrome. NHS Choices. [Online] Available from http://www.nhs.uk/conditions/Downs-syndrome/Pages/Introduction.aspx [Accessed 25 December 2012] Edward's syndrome (2012). NHS choices. [Online] Available from http://www.nhs.uk/conditions/edwards-syndrome/Pages/Introduction.aspx [Accessed 25 December 2012] Patau's syndrome (2012). NHS choices. [Online] Available from http://www.patient.co.uk/doctor/pataus-syndrome [Accessed 25 December 2012] Schendel, D. E.; Autry, A.; Wines, R.; Moore, C. (2009). The co-occurrence of autism and birth defects: prevalence and risk in a population-based cohort. [Online] Available from http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.200 [Accessed 25 December 2012] Smith, R. (2011). “One in 50 babies has a birth defect: research”. 14 December. The Telegraph. [Online] Available from http://www.telegraph.co.uk/health/healthnews/8953930/One-in-50-babies-has-a-birth-defect-research.html [Accessed 25 December 2012] Spina Bifida (2012). Patient.co.uk. [Online] Available from http://www.patient.co.uk/doctor/Spina-Bifida.htm [Accessed 25 December 2012] Wolfberg, A. J. (n.d). Thyroid Disease Raises Risk for Birth Defects. [Online] Available From http://www.thyroiduk.org.uk/tuk/research/Pregnancy-Fertility-Children.html [Accessed 25 December 2012] Read More