Case Study 3: Genetic and Congenital Disorders Analysis

Case Study 3: Genetic and Congenital Disorders Analysis

Pregnancy is a critical issue that requires individuals to manage the health of the mother and the unborn baby. Both have health issues, and some conditions or substances in the mother can be potentially lethal to the baby. According to the CDC, approximately 300,000 babies are born with neural tube defects globally.

Van Gool et al. (2018) explain that each woman requires about 400 mcg of folic acid daily, and adequate levels of folic acid in the body help prevent neural tube defects. Folic acid fortified foods are the best interventions. Folic acid and neural tube defects, diabetes and tests in pregnancy, and vulnerability of fetus t teratogens are the focus of this essay.

Teratogenic Effects of Folic Acid Deficiency and other Risks

Folic acid deficiency is a potentially harmful condition to the unborn baby. The most common congenital problem is neural tube defects such as anencephaly and spina bifida (Kallem et al., 2018). They occur when bones in the spinal code have developmental problems when they fail to develop or properly fuse, interfering with the integrity of the spinal cord and the brain. The mechanism is somewhat unclear.

However, scientists claim that folic acid stimulates cellular methylation reactions preventing neural tube defects (van Gool et al., 2018). The absence of folic acid leads to slower methylation reactions, leading to incomplete bone formation and fusion hence disorders in the neural tube. However, the mechanism is still unclear, and more research is necessary to determine the mechanism and develop other methods of preventing neural tube defects.

Diabetes complicates pregnancy and can be an issue of concern in Felicity’s case. Reputable bodies such as the CDC and WHO have identified diabetes as a leading cause of congenital anomalies (Kallem et al., 2020). Diabetes leads to various complications in pregnancy, such as macrosomia babies, respiratory distress syndrome, preterm birth, and baby hypoglycemia soon after birth.

Besides these complications, diabetes causes congenital disorders such as orofacial defects, heart disorders, limbs, spine, and vertebral malformations. Neural tube defects are significantly higher in diabetic mothers than in the general population.

Maternal Serum Markers and other Tests in Pregnancy

Maternal serum marker testing is a standard test in pregnancy used to detect fetal disorders. Kagan et al. (2022) explain that serum marker tests are vital in detecting neural tube defects such as anencephaly and spina bifida, Down syndrome, Patau syndrome, Edwards syndrome, and other congenital anomalies. The test is vital in decision-making regarding pregnancy and for corrective actions.

The first benefit of the test is to prepare the mother for the baby psychologically. The mother learns of the baby’s health status, arrays fears, and prepares to live with a child (Kagan et al., 2022). Giving birth to children with congenital disorders can be challenging, but informing the mother increases preparatory actions for proper coping.

Serum marker tests also enable the healthcare provider and the parents to take corrective actions. In many instances, healthcare providers perform surgeries on babies before they’re born to correct anomalies such as Spinal Bifida (Kagan et al., 2022).

The corrections give babies a better chance at life and significantly improve their quality of life. The serum maker test also allows healthcare providers and patients to make life decisions. For example, these parties may decide to terminate children with severe anomalies such as anencephaly.

Such decisions are made when letting the babies survive to term does not change the health or state of the unborn baby. Maternal Serum marker testing is a non-invasive procedure that other contemporary tests should accompany to make a definitive diagnosis (Kagan et al., 2022).

Monitoring the fetus’s weight is integral for all diabetic mothers. According to the CDC, most diabetic women give birth to macrosomia babies, and the situation is worsened by poor glycemic control. HbA1c tests are essential for this client, in addition to routine random and fasting blood sugars for prompt management (Kallem et al., 2020).

The intention is to ensure the levels remain within the normal range or below 6.5% as much as possible. Other tests in the first trimester are ultrasounds to determine nuchal translucency and nasal bone determination. An ultrasound is used to detect the fetal structure, location, and abnormalities of the pelvis and the reproductive organs (Kagan et al., 2022). Ultrasounds and serum markers are used to countercheck miscalculated dates.

Vulnerability of Babies to Teratogens

Unborn babies are most vulnerable to teratogens in the first trimester, specifically from 4-8 weeks after concepts. During this period, the body systems usually form; hence it is easy to distort normal development processes. Organogenesis is a crucial stage in which the systems undergo programmed development, and many teratogens in this stage affect the development of organs (CDC, 2020).

The heart begins to develop at around 3-4 weeks, and teratogens at this time can prevent its development or leads to congenital disorders such as transposition of great vessels and coarctation of the aorta (CDC, 2020). Teratogens that interfere with the development of vital organs, including the liver, brain, and heart, may not survive and suffer intrauterine fetal death.

Amelia can also result from teratogens for four weeks. Organs like the lungs system and the brain develop but mature progressively. The baby cannot produce enough surfactant until about 26 weeks gestation hence the need (Kaleelullah & Garugula, 2021). Surfactant leads to lung maturity before birth.

Preterm delivery requires hastening the process to prevent the baby from developing respiratory distress syndrome from alveoli collapse. Teratogens in the first trimester, especially in organogenesis, can cause many congenital disorders, including failure of organs to develop.

According to the world health organization, many medications used to prevent nausea and vomiting (such as thalidomide) profound in this stage were found to cause the most congenital anomalies. Other drugs, such as Diethylstilbestrol, used to prevent miscarriage, were identified as potentially teratogenic (Kaleelullah & Garugula, 2021).

In the second and third trimesters, teratogens find already developed organs and organ systems and can hardly affect the structure. Muacevic et al. (2021) explain that teratogens can potentially affect the integrity of organs and organ systems, prevent further development and maturity, and even cause the malfunction of already formed organs.

Thus, the baby is most vulnerable to teratogens in the first trimester, between 4 and 8 weeks. The mother is most vulnerable at this stage hence the need to ensure they have enough stores of vital minerals such as folic acid and Vitamin E. They should also be reviewed to ensure they are not taking potentially teratogenic drugs.


Folic acid deficiency and diabetes are leading risk factors for congenital anomalies. Folic acid supplementation and proper diabetes management are essential interventions in preventing congenital disorders such as neural tube defects and down syndrome.


Center for Disease Control and Prevention (CDC), (2021). Congenital Anomalies of the Nervous System. Birth Defects Surveillance Toolkit.

Kagan, K. O., Sonek, J., & Kozlowski, P. (2022). Antenatal screening for chromosomal abnormalities. Archives of Gynecology and Obstetrics, 1-11.

Kaleelullah, R. A., & Garugula, N. (2021). Teratogenic Genesis in Fetal Malformations. Cureus13(2).

Kallem, V. R., Pandita, A., & Pillai, A. (2020). Infant of diabetic mother: what one needs to know? The Journal of Maternal-Fetal & Neonatal Medicine, 33(3), 482-492.

Muacevic, A., Adler, J., Kaleelullah, R., & Garugula, N. (2021). Teratogenic Genesis in Fetal Malformations. Cureus13(2).

van Gool, J. D., Hirche, H., Lax, H., & De Schaepdrijver, L. (2018). Folic acid and primary prevention of neural tube defects: A review. Reproductive Toxicology80, 73-84.