Patho - Advance Nursing

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

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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-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

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

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,

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.

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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

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.