Jimenez, Mario Ignacio A. Bi 160.

1 (B)
114507 Aug 3, 2014

1. What is spina bifida? How does it occur?
According to the National Institute of Neurological Disorders and Stroke, spina bifida is a
type of neural tube defect. This is usually caused by the malformation of the neural tube during
the early stages of pregnancy. These malformations can lead to the incomplete development of
the brain, spinal cord and/or the meninges (the protective covering of the brain and spinal cord).
The latest studies have not yet been able to pinpoint a singular compound or factor that might
lead to this defect, although scientists suspect that there are multiple variables as play that may
cause this such as: genetic, environmental, and nutritional factors. However scientists have
observed that a a lack of folic acid, a B vitamin, is a key factor in causing this defect, although
taking this during pregnancy still has no guarantee that normal neural tube formation will occur,
although it may lessen the chances. (NINDS 2014)
There are four types of spina bifida: occulta, closed neural tube defects, meningocele,
myelomeningocele.
Occulta The mildest of all three types where only one or more vertebrae are malformed and
that a layer of skin usually covers the opening to the vertebrae. This type of spina bifida rarely
causes any disability or symptom.
Closed Neural Tube Defects This type of spina bifida has a range of defects where the area of
the spinal defect is characterized by malformations of fat, bone or meninges. There are few to
no symptoms, although some malformations may cause partial paralysis with bladder and/or
bowel dysfunction.
Meningocele This type os spina bifida is characterized by the spinal fluid and meninges
protrude through the abnormal vertebrae opening. This malformation contains no neural
elements. Although symptoms may vary it ranges from having no visible symptoms to complete
paralysis and bowel and/or bladder dysfunction.
Myelomeningocele This type of spina bifida is the most severe since apart from the protrusion
of the spinal fluid and meninges from the abnormal vertebrae opening, this type would usually
also include the nerves of the spinal cord with are usually exposed. This may cause paralysis of
everything under the affected area and/or bowel and/or urinary dysfunction.
Figure 1: Three types of spina bifida
(Source: http://www.schn.health.nsw.gov.au/files/factsheets/what_is_spina_bifida_image_2.png)

2. What is Transposition of the Great Arteries (TGA)? Explain the congenital defect.
According to the CDC (Centers for Diseas Control and Prevention), TGA is a congenital hearet
disease that occurs when two of the main arteries of the heart, the pulmonary artery and the
aorta switch positions or are transposed. Common symptoms of this defect include: Blueness of
skin, shortness of breath, poor feeding. There are surgical solutions to correct this defect
although this requires regular lifelong checkups with a cardiologist and these surgical corrections
may have associated conditions later on in the life of the patient.
Normally after blood from the Inferior and Superior Vena Cava is pumped into the right
atrium then ventricle, the oxygen poor blood would go to the pulmonary arteries to the lungs,
re-enter the pulmonary vein (with oxygen rich blood) then into the left atrium to the left
ventricle into the aorta then to the rest of the body. But with this transposition of the arteries,
the aorta and the pulmonary artery switches positions so that after the oxygen poor blood gets
pumped into the right ventricle it goes straight to the aorta then back to the body. Likewise
oxygen rich blood gets re-pumped into the lungs from the left side of the heart because the
pulmonary artery is the one now connected to the left ventricle.
This congenital defect has different ways to have blood mixed back into the correct side of
the heart. ASD or Atrial Septal Defect occurs when the atrial septum is connected to the
transposed pulmonary artery thus facilitating the mixing of oxygen-rich blood, from the left side
of the heart to the right side. PDA or Patent Ductun Arteriosis occurs when there is a connection
between the pulmonary artery and the aorta, this again facilitates the mixture of the oxygen-rich
blood and the oxygen-poor blood (CDC 2014).
Figure 2: Comparison of a normal heart with a heart suffering from TGA
(Source: https://www.chop.edu/img/cardiac-center/transposition-of-the-great-arteries-repair.html)

3. What is imperforate anus? How does it occur?
Imperforate anus or Anorectal Malformation (ARM) is a congenital defect that is
characterized by the missing, blocked or relocation of the anal opening. No specific cause for
ARM has been identified, although there are several forms of it. These forms of ARM has the
opening to the anus closed off or missing, the opening to the anus is in the wrong place and too
small, the rectum is connected to the vagina (for females) and urethra or bladder (for males),
anal opening, urethra and vagina form a single opening (for females). There are also some other
associated anomalies such as vertebral or cardiovascular anomalies. There are corrective
surgeries present, a series of three surgeries to recreate and create an artificial opening (UCSF
2014).
Table 3: Types of Imperforate Anus
(Source: http://www.surgery.ucsf.edu/media/6452442/anorectal-malformation-v4-all.gif)

4. What are teratogens? When will they have the greatest effect on the developing
organism? Explain.
Teratogens are drugs or substances may induce, after fetal exposure, abnormalities that may
lead to future birth defects (both physical and mental). Teratogens may have one to several
effects depending on the composition of the substance and the period it is introduced to the
developing fetus is another key factor since some teratogens only have an effect only if
introduced to a fetus during a certain time window during pregnancy; although for most
teratogens, they have an effect only after the third week of pregnancy, during the start of
organogenesis (Chung).

a. What are the pregnancy drug categories, A, B, C, D and X? Explain.
Pregnancy drug category is a system used to categorize different drugs or substances that
may or may not have some kind of effect on the developing fetus there are 5 different
categories:
Category A These are drugs that have undergone well-controlled studies and have been
demonstrated to not have any effect on the fetus during the entire duration of the pregnancy
Category B Drugs that have failed to demonstrate any risk in animal fetal experiments and
have no adequate well-controlled studies to show safe use in pregnant women.
Category C Drugs that in animal testing have shown adverse effects on the developing
fetus but have no conclusive, well-controlled studies in humans, but potential benefits might
warrant use of the drug in pregnant women despite the risk
Category D There are positive evidences that point to fetal risks, but potential benefits
may warrant use of the drug in pregnant women.
Category X Studies in both animals and humans have shown fetal abnormalities and there
is positive evidence of human fetal risk, moreover the risk involved in use of the drug in
pregnant women outweigh the possible benefits.
b. List the congenital defects that are produced by the following teratogens:
i. Thalidomide
Thalidomide is a drug that is useful for treating leprosy and multiple myeloma, although if
taken during the first trimester of pregnancy may cause fetal defects such as phocomelia, or a
defect where the hands and/or feet are attached to abbreviated arms and/or legs. Other defects
may occur such as congenital heart disease, malformations of inner and outer ear and ocular
abnormalities (Kim and Scialli 2011)
ii. Alcohol
Fetuses exposed to alcohol during pregnancy may suffer from fetal alcohol syndrome.
Alcohol can cause serious behavioral problems in the child as well as brain defects. Some
observable behavioral problems would be hyperactivity, impulsivity, poor socialization and
communication skills. This syndrome also affects the memory and cognitive processes of the
brain as shown in brain imaging studies (Mattson et al.)
iii. Isotretinoin
Isotretinoin is an approved drug for treatment of dermatological diseases such as
recalcitrant nodular acne. Intake during pregnancy may cause Accutane embryopathy, which
may cause malformations of the central nervous system, head, face and heart. Some further
examples are facial asymmetry, microtia (small ear), anotia (no ear), hydrocephalus and several
others (Dolan 2004).
iv. Tetracycline
Tetracycline is a type of antibiotic that can pass through the placenta and can be deposited
into the teeth and bones of the developing fetus jeopardizing the structural integrity of long
bones as well as diminished growth and causes hypoplasia of the enamel of teeth (Chung).
v. Smoking
Nicotine does not cause any congenital malformation but does have an effect on fetal
growth. Nicotine works by constricting uterine blood vessels, with causes decreased blood
flow to the developing fetus, which compromises cell growth that may have an effect on
mental development (Chung)

Sources:
Anorectal Malformation [internet]. [UCSF] University of California, San Fransisco. 2014 [Cited 2014
Aug 3]. Available from: http://www.surgery.ucsf.edu/conditions--procedures/imperforate-
anus.aspx
Chung W. Teratogens and their Effects.1-8. Available from:
http://www.aidforwomen.com/Teratogens%20during%20pregnacy.pdf
Facts about Transposition of the Great Arteries [internet]. [CDC] Centers for Disease Control and
Prevention. 2014 [Cited 2014 Aug 3] Available from:
http://www.cdc.gov/ncbddd/heartdefects/tga.html#tgaModal
FDA Pregnancy Categories [internet]. [WU] Washington University. [Cited 2014 Aug 3]. Available
from: http://depts.washington.edu/druginfo/Formulary/Pregnancy.pdf
Isotretinoin and Pregnancy - A Continued Risk for Birth Defects [internet]. Dolan SM. 2004 [Cited
2014 Aug 3]. Available from: http://www.medscape.com/viewarticle/492119
Kim JH, Scialli AR. 2011. Thalidomide: The Tragedy of Birth Defects and the Effective Treatment of
Disease. Toxicol. Sci 122 (1): 1-6. Available from:
https://www.lib.washington.edu/help/guides/42CBE.pdf
Mattson SN, Schoenfeld AM, Riley EP. Teratogenic Effects of Alcohol on Brain and Behavior. NIH
National Institute on Alcohol Abuse and Alcoholism. Available from:
http://pubs.niaaa.nih.gov/publications/arh25-3/185-191.htm
Spina Bifida Fact Sheet [internet]. [NINDS] National Institute of Neurological Disorders and Stroke.
2014 [Cited 2014 Aug 3]. Available from:
http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm