Running head: CONGENITAL ANOMALIES 1 Congenital Anomalies Jillian Zucco Regis College, PMHNP CONGENITAL ANOMALIES 2 Congenital Anomalies The purpose of this assignment is to critique an article about a topic covered in this week’s reading material and discuss both the topic and the article with classmates. The topic I chose for this assignment is: congenital anomalies. Congenital anomalies are genetic or inherited disorders or developmental disorders that are present at birth. A congenital anomaly can be caused by a single-gene disorder, which is a mutation in one gene in the ova or sperm that is passed down to later generations. Mutations in body cells that are not reproductive cells can cause a disorder or dysfunction but cannot be passed down the way mutations in reproductive cells can (Vanmeter, 2014). Chromosomal defects can also be the cause congenital anomalies. During meiosis, DNA fragments can be displaced or lost. This kind of error is what usually causes chromosomal anomalies and is more common when the mother is older than age 35. Some congenital disorders happen at birth, but do not have a genetic component. These can occur from premature birth, exposure to teratogenic agents, or a traumatic labor or delivery. Teratogenic agents are those that can damage the embryo or fetus and its development. Some congenital anomalies are caused by multiple genes, making them polygenic disorders (Vanmeter, 2014). The article I chose to critique is entitled “Dietary glycemic index and glycemic load during pregnancy and offspring risk of congenital heart defects: a prospective cohort study.” It was authored by Amalie Schmidt, Marie Lund, Giulia Corn, Thorhallur Halldorsson, Nina Oyen, Jan Wohfahrt, Sjurdur Olsen, and Mads Melbye, all of whom are affiliated with reputable institutions, such as the University of Bergen Department of Global Public Health, Harvard TH Chan School of Public Health, and Stanford University School of Medicine. The article was published this year, 2020, in The American Journal of Clinical Nutrition. The purpose of this CONGENITAL ANOMALIES 3 article was research- to examine the relationship between mid-pregnancy dietary glycemic index, glycemic load, and the risk of congenital heart defects in the baby. The article does not include a formal literature review, but the introduction section provides information already published about the topic from previous studies, mostly in the discipline of medicine. The journals cited from are mostly medical journals on the topics of pediatrics, epidemiology, and diabetes. The authors identify a research gap by stating that only one other study exists that assesses the risks between glycemic index and heart defects. The first aim of the study was to investigate the association between glycemic index and glycemic load during pregnancy and offspring risk of congenital heart defects using a food-fre.

1. Running head: CONGENITAL ANOMALIES 1
Congenital Anomalies
Jillian Zucco
Regis College, PMHNP
CONGENITAL ANOMALIES 2
Congenital Anomalies
The purpose of this assignment is to critique an article about a
topic covered in this
week’s reading material and discuss both the topic and the
article with classmates. The topic I
chose for this assignment is: congenital anomalies. Congenital
anomalies are genetic or inherited
disorders or developmental disorders that are present at birth. A
congenital anomaly can be
caused by a single-gene disorder, which is a mutation in one

2. gene in the ova or sperm that is
passed down to later generations. Mutations in body cells that
are not reproductive cells can
cause a disorder or dysfunction but cannot be passed down the
way mutations in reproductive
cells can (Vanmeter, 2014).
Chromosomal defects can also be the cause congenital
anomalies. During meiosis, DNA
fragments can be displaced or lost. This kind of error is what
usually causes chromosomal
anomalies and is more common when the mother is older than
age 35. Some congenital
disorders happen at birth, but do not have a genetic component.
These can occur from premature
birth, exposure to teratogenic agents, or a traumatic labor or
delivery. Teratogenic agents are
those that can damage the embryo or fetus and its development.
Some congenital anomalies are
caused by multiple genes, making them polygenic disorders
(Vanmeter, 2014).
The article I chose to critique is entitled “Dietary glycemic
index and glycemic load
during pregnancy and offspring risk of congenital heart defects:
a prospective cohort study.” It

3. was authored by Amalie Schmidt, Marie Lund, Giulia Corn,
Thorhallur Halldorsson, Nina Oyen,
Jan Wohfahrt, Sjurdur Olsen, and Mads Melbye, all of whom
are affiliated with reputable
institutions, such as the University of Bergen Department of
Global Public Health, Harvard TH
Chan School of Public Health, and Stanford University School
of Medicine. The article was
published this year, 2020, in The American Journal of Clinical
Nutrition. The purpose of this
CONGENITAL ANOMALIES 3
article was research- to examine the relationship between mid-
pregnancy dietary glycemic index,
glycemic load, and the risk of congenital heart defects in the
baby. The article does not include a
formal literature review, but the introduction section provides
information already published
about the topic from previous studies, mostly in the discipline
of medicine. The journals cited
from are mostly medical journals on the topics of pediatrics,
epidemiology, and diabetes. The

4. authors identify a research gap by stating that only one other
study exists that assesses the risks
between glycemic index and heart defects. The first aim of the
study was to investigate the
association between glycemic index and glycemic load during
pregnancy and offspring risk of
congenital heart defects using a food-frequency questionnaire,
and the second aim was to
investigate the association between high intake of sugary
beverages and offspring risk of
congenital heart defects (Schmidt, 2020). The study design is a
prospective cohort study. Women
were recruited at antenatal visits to their primary care providers
to participate in 2 phone
interviews. Women in the Danish National Birth Cohort were
recruited and invited to fill out
food-frequency questionnaire. Discharge and outpatient
diagnoses from hospital encounters were
collected from the National Patient Register. Maternal and fetal
characteristics related to
pregnancy and birth were collected form the Medical Birth
Register. Statistical analyses were
performed to determine the association between glycemic index,
glycemic load, and congenital

5. heart defects as well as the association between sugary
beverages and congenital heart defects.
The sample size included 101,042 pregnancies, which seems
sufficient for the project (Schmidt,
2020).
The researchers found no significant association between
glycemic index and glycemic
load during pregnancy and congenital heart defects. The
researchers found a significant
association between high intake of sugary carbonated beverages
and congenital heart defects. It
CONGENITAL ANOMALIES 4
was concluded that high dietary glycemic index in pregnancy
does not increase the offspring risk
of congenital heart defects, but that sugary carbonated
beverages pose a moderate risk of
offspring heart defects. The authors do not state any
implications for further research but since
this seems to be only the second study on this topic, further
research is necessary to confirm
these findings. APRNs should apply this knowledge when
assessing, treating, and educating

6. expecting mothers. Expecting mothers should be instructed to
limit their intake of sugary
carbonated beverages like soda. I would recommend this article
to others, since it appears to be
new information.
Congenital heart defects can be caused by both genetic and
environmental factors,
making them multifactorial congenital anomalies (Vanmeter,
2014). Environmental factors are
often modifiable. As APRNs, it is our responsibility to educate
patients about modifiable risk
factors and encourage healthy decisions. This knowledge of
congenital anomalies as well as this
new information about sugary carbonated beverages posing a
risk for congenital heart defects are
important for us to relay to our patients regardless of our
specialty area as nurse practitioners. It
is worth noting that another article I found concludes that a
higher maternal body mass index is
related to increased risk of offspring congenital heart defects
(Liu, 2019). It is possible that many
of the women in the first study who consume sugary carbonated
beverages have a higher BMI,

7. and that a higher BMI poses the risk and not the sugary
carbonated beverages alone. Regardless,
we must educate pre- and perinatal patients to make healthy
decisions including cutting down on
sugary carbonated beverage consumption.
CONGENITAL ANOMALIES 5
References
Liu, X., Ding, G., Yang, W., Feng, X., Li, Y., Liu, H., Zhang,
Q., Ji, L., & Li, D. (2019).
Maternal body mass index and risk of congenital heart defects
in infants: A dose-
response meta-analysis. BioMed Research International, 2019,
1315796.
Schmidt, A. B., Lund, M., Corn, G., Halldorsson, T. I., Øyen,
N., Wohlfahrt, J., Olsen, S. F., &
Melbye, M. (2020). Dietary glycemic index and glycemic load
during pregnancy and
offspring risk of congenital heart defects: a prospective cohort
study. The American

8. Journal of Clinical Nutrition, 111(3), 526–535.
VanMeter, K. C., & Hubert, R. J. (2014). Gould's
pathophysiology for the health professions. St.
Louis, MO: Elsevier Saunders.