Case Study Analysis on Teratogenic Impact on Foetal Development

This case study analysis paper focuses on a case study involving Felicity, a 29 year old woman who had been very professionally driven and invested most of her time in her career. The paper discusses the teratogenic impact on foetal development due to folic acid deficiency in pregnant women and the risks associated with it. It also talks about maternal serum marker testing and teratogens. The subject, course code, course name, and college/university are not mentioned.

Running head: CASE STUDY ANALYSIS
Case study analysis
Name of the student:
Name of the university:
Author note:

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CASE STUDY ANALYSIS
Table of Contents
Question 1:.................................................................................................................................2
Question 2..................................................................................................................................3
Question 3:.................................................................................................................................3
References..................................................................................................................................5

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CASE STUDY ANALYSIS
Question 1:
The case study analysis paper focuses on a case study involving Felicity, a 29 year old
woman who had been very professionally driven and invested most of her time in her career.
Although, the additional stress and pressure took a toll on her health, with already suffering
from diabetes mellitus and going through her first pregnancy, Felicity had forgotten to take
her folic acid supplements, due to which her doctor had increased her folic acid supplements
and asked her to return for a maternal serum marking test. Now it has to be highlighted in this
context that teratogenic impact on the foetal development is extremely high. As discussed by
Gao et al. (2016), close to 10 to 15 % of the total congenital structural abnormalities in the
new- born children are facilitated by the environmental factors or teratogens. Furthermore, it
has to be acknowledged that 1 in 250 newborn infants have been reported to have certain
developmental defects due to the uncontrollable impact of the teratogens. A teratogen can be
defined as the any environmental factor which can produce a long-lasting abnormality
involving the structure or function, either restricting the growth or even causing the death of
the embryo as well. The folic acid deficiency in the pregnant ladies has been proven to be a
significant teratogen and has long lasting and deleterious impacts on the development of the
foetus. As discussed by Rosario et al. (2017), the deficiency of folic acid and low
concentration of folate in the red blood cells are directly related to neural tube effects in the
developing foetus. The folate deficiency also causes irreversible brain damages to the
developing foetus and causes neural damages to the brain of the foetus. Along with that, very
low folic acid levels can also interfere with nervous system development of the foetus and in
turn lead to anomalous development of the nervous system. Few other commonly reported
defects associated with folic acid deficiency includes low birth weight, still birth and varied
degrees of brain damage. All these factors are noteworthy risks in case of Felicity and the risk
of developing anaemia for herself is also a risk which will be needed to take into

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CASE STUDY ANALYSIS
consideration for Felicity.
Question 2:
Maternal serum marker testing is a comprehensive assessment which helps in the
identification of many neuronal defects and genetic diseases in the unborn child. This testing
is done by collecting the maternal serum sample, taken between 15 and 21 weeks of
gestation. The maternal serum marker test assesses the presence of alpha fetoprotein or AFP,
human chorionic gonadotropin or hCG, and estriol in the maternal serum. In certain settings
even the presence of a fourth marker, inhibit-A is also checked (Cuckle, Pergament & Benn,
2016). It is a very effective and successful screening assessment which is associated with
early detection of any neuronal and developmental anomaly present in the foetus, detected as
early as in the first trimester of the pregnancy. It helps in the detection of major
developmental and genetic disorders in the foetus such as Down syndrome, Edward
syndrome, and Neural tube effects. Periodic ultrasound assessments would also be very
effective assessment for felicity and her unborn baby, which will help the doctors visualize or
detect any utero-cranial and spinal defects in the unborn child, which can be a possibility in
this case (Huang et al., 2015).
Question 3:
Teratogens can be defined as the variety of environmental factors that are associated
with contributing to a permanent abnormality or anomaly, either structurally of functionally
to the developing embryo, which in turn either restricts the growth of the foetus or leads to
the death of the foetus. As illustrated by Hendrick (2016), the developing embryos or foetuses
are the most vulnerable to the teratogen impact in the first trimester, which is also the period
where the most of the structural organ development is taking place. Although there is
considerable debate regarding the exact reasons why the teratogen effects is the highest at this
particular period, there are various schools of thoughts. For instance, the cellular

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CASE STUDY ANALYSIS
multiplication and differentiation is rapid during this period, and any anomalous development
in the normal cellular structure in this period unswervingly has a direct detrimental impact on
the overall development of the foetus, especially in the neuronal development. On a more
elaborative note, in the period of 3 to 16 weeks of the gestation is the critical period of brain
growth and neuronal development, this is the reason why unprecedented and uncontrolled
teratogen impact in the first trimester leads to various developmental and neuronal disorders
(James et al., 2017).

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References:
Cuckle, H., Pergament, E., & Benn, P. (2016). Maternal serum screening for chromosomal
abnormalities and neural rube defects. In Genetic disorders and the fetus: diagnosis,
prevention and treatment. Wiley, Chichester (United Kingdom).
Gao, Y., Sheng, C., Xie, R. H., Sun, W., Asztalos, E., Moddemann, D., ... & Wen, S. W.
(2016). New perspective on impact of folic acid supplementation during pregnancy on
neurodevelopment/autism in the offspring children–a systematic review. PloS
one, 11(11), e0165626.
Hendrick, V. (2016). Teratogenicity, pregnancy complications, and postnatal risks of
antipsychotics, benzodiazepines, lithium, and electroconvulsive therapy.
Huang, T., Dennis, A., Meschino, W. S., Rashid, S., Mak‐Tam, E., & Cuckle, H. (2015). First
trimester screening for Down syndrome using nuchal translucency, maternal serum
pregnancy‐associated plasma protein A, free‐β human chorionic gonadotrophin,
placental growth factor, and α‐fetoprotein. Prenatal diagnosis, 35(7), 709-716.
James, D. K., Steer, P. J., Weiner, C. P., Gonik, B., & Robson, S. C. (Eds.). (2017). High-risk
pregnancy: management options (Vol. 2). Cambridge University Press.
Rosario, F. J., Nathanielsz, P. W., Powell, T. L., & Jansson, T. (2017). Maternal folate
deficiency causes inhibition of mTOR signaling, down-regulation of placental amino
acid transporters and fetal growth restriction in mice. Scientific reports, 7(1), 3982.