Birth defects


Birth defects

Birth defects are health problems or physical changes that are present when a baby is born. There are no people who are immune to birth defects and affects all regardless of age, sex, race, and nationality. The cause of children defects is unknown, but is believed to be triggered by many factors; hereditary and environmental, varying from one individual to another regarding age, and family health history.

Treatment of children birth defects requires an interdisciplinary approach including dieticians, physical therapists, speech therapists, and social workers to help improve the physical and social health of the child.

The disorders affect the people living with children with defects causing a lot of psychological and economic challenges. This study defines birth defects in children and lists children at risk, and symptoms of the disorder. The study explains the diagnosis, treatment, complications, prevention, and suggests ways to live with the disorder.

Parents who give birth to children with birth defects ask a lot of questions how that happened, but never find answers. According to Toufaily et al. (88), birth defects occur for a variety of reasons including gene mutation and exposure to certain materials when pregnant.

There are inheritances or hereditary defects passed from parents to their children. Children inherit traits such as hair color and blood types, and can also inherit disease-causing genes that bring congenital abnormalities.

Chromosomal problems are hereditary, being passed from the mother to the child during pregnancy (Tuan, 723). Changes in chromosomes cause health defects. Birth defects are also caused by multifactorial inheritance; meaning there is a variety of things that cause child birth defects, both genetic and environmental.

Teratogens are also children defect causal agents. When pregnant women get exposed to teratogen substances, chances of a child to be born with defects are high. The substance can occur in medical prescriptions, street drugs, alcohol consumption, or in toxic chemicals.

The likelihood of the children disorders is universal across the world affecting all individuals of all types and backgrounds. Most of the children are born healthy, but probabilities of having defects exist. These abnormalities vary with parental age, family health history among other things and healthcare providers can provide information on possibilities of your child having a defect.

Symptoms of birth defects in children vary widely depending on the abnormality condition. Symptoms vary across individuals some having abnormal shapes of organs such as face, eyes, ears, and mouth. Children defects may cause feeding problems, joint problems, kidney and heart problems, and slowed growth. Other problems include high infection frequencies, intestinal problems, and partially enclosed spinal cord.

Many congenital abnormalities can be treated before birth with regular tests. Defects such as Down syndrome can be diagnosed by examining the amniotic fluid, or by testing the child’s DNA in the maternal blood. Possibilities of Some birth defects can be shown by performing an ultrasound to the fetus during pregnancy, although not accurate because children with defects might appear normal.

Alpha-fetoprotein blood test can be performed when the baby is still in the uterus to measure protein levels released by the baby’s liver is found in the maternal blood. Down syndrome that causes learning problems and physical changes can be tested by measuring the level of human chorionic gonadotropin hormone released in the womb. Lower levels of the hormone indicate the child has the disorder. Down syndrome can also be tested by examining levels of Estriol hormone made by the placenta; abnormal levels indicate the presence of the disease. Moreover, abnormalities in the levels of Inhibin hormone made by the womb indicate the availability of Down syndrome.

Defects in children can be tested by performing Nuchal translucency screening. The test is performed in the later stages of the final semester. Down syndrome is confirmed when there is thickening at the back of the child’s neck. Amniocentesis test examines small samples of amniotic fluid surrounding the child. These samples are then used in diagnosing chromosomal disorders and the opening of neural tube disorders such as partially enclosed spinal cord (spina bifida). This test can be performed for other genetic defect problems depending on family history, and laboratory testing available in the time of need. Amniocentesis should be done when women at risks of hereditary disorders are 15-20 week pregnant, and to women above 35 years at delivery. The test should also be done to women with a history of abnormal blood tests, meaning they are at risk of hereditary problems (Wang et al., 219).

Chronic villus sampling takes placental samples with the same genetic components as the child, to test chromosomal problems and other disorders. The test is usually performed depending on family history and lab tests available. The test does not give information on neural tube defects, and women need to do blood test follow-ups when 16-18 weeks pregnant.

Testing of child defects can also be done by performing an ultrasound. The method uses sound waves to create images of the internal organs to detect any abnormalities in child’s physical structure. Noninvasive prenatal screenings are done to look at the maternal blood. The technique compares the mother’s DNA to that of the child and tries to identify disorders such as trisomy 13, 18, and 21. Cases where birth defects are noted after birth, babies are diagnosed with physical exams and blood samples. Chromosomal problems are investigated in the lab for parents to know their birth defects for future pregnancies.

Treatment of birth defects in children aims to reduce problems because the defects have no cure. Treatment depends on the symptoms of the child, age, general health, or severity of the condition. Sick children benefit from surgeries, medical prescriptions, physical and occupational therapies, education interventions, and other types of aid.

Children with congenital abnormalities suffer from possible complications, varying widely depending on the type of condition. These complications include intestinal problems, cardiac problems, vision and hearing problems, and thyroid problems. They also suffer from diabetes, anxiety, autism, attention deficit, obsessive-compulsive disorders, and hypertension.

Prevention of children birth defects is a challenge because not all disorders can be prevented. A lot of research is needed in this field to find more on possibilities of curbing the defects. The only way known to prevent the defects is to take healthy steps before and during pregnancy. Pregnant mothers should seek vaccinations for disorders such as rubella to prevent birth defects. Abstaining from alcohol during pregnancy increases the health of the child, while consumption of prenatal vitamin helps prevent neural tube defects.

Living with children with congenital abnormalities is hard, but they should not be abandoned. To take good care of yourself and that of the child, ensure all appointments with the baby’s healthcare provider are maintained. The child should be treated by a multidisciplinary team including counselors, social workers, therapists, and others to help them cope with their disability. Parents should seek support from local community services, families and friends, and even faith communities to provide better care for their child. Parents should keep in touch with their child’s healthcare provider to seek help when symptoms worsen, or when there is the availability of new symptom

Works Cited

Acs, Nandor. Congenital Abnormalities And Preterm Birth-Related To Maternal Illnesses During Pregnancy. Springer, 2014.

Wang, Huijun et al. “Molecular Diagnostic Of Pediatrics Rare Disease In Childrens Hospital Of Fudan             University.” North American Journal Of Medicine And Science, vol 06, no. 04, 2013, p. 219. American Chinese Medical Exchange Society,           doi:10.7156/najms.2014.0604219.

Toufaily, M. Hassan et al. “Causes Of Congenital Malformations.” Birth Defects Research, vol 110, no. 2,             2018, pp. 87-91. Wiley-Blackwell, doi:10.1002/bdr2.1105.

Tuan, Rocky S. “Birth Defects: Etiology, Screening, And Detection.” Birth Defects Research, vol 109, no.           10, 2017, pp. 723-724. Wiley-Blackwell, doi:10.1002/bdr2.1066.




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