The physical characteristics are indicative of trisomy 21, or down syndrome. This chromosomal abnormality is characterized by distinct features that are noticeable upon delivery. Down syndrome was first discovered in 1866 by J Langdon Down, after researching the distinguishable features of trisomy 21 in children, which are characterized by the upward slant of the eyes, short fingers, and excess skin at the fold of the neck (McCance et.al., 2019). According to McCance, distinguishable facial and body features of this chromosomal abnormality include a low nasal bridge, a flat occiput, flat and low-set ears, protruding tongue, and poor muscle tone (pg. 144). Studies show that down syndrome occurs in 1 out of 800 births and the average life expectancy its now up to 60 years now that we know how to manage the common illnesses that occur with Trisomy 21 (pg. 144). Trisomy of the 21st chromosome occurs at random and by chance, but the increase of life expectancy and management of the health conditions that come with Trisomy 21 allow for more time to be spent on research and improvements on symptom and chronic illness management.
As the parents struggle to understand what happened to their baby, as a clinician I would explain the genetic process that occurs with Trisomy 21 and how prenatal behaviors or risk factors do not directly affect whether an infant will be born with down syndrome. The infants condition began during early embryonic development, when both of the mother and father’s gametes had an issue with proper formation known as nondisjunction (McCance et.al., 2019). Nondisjunction in the mother’s egg cell occurs in approximately 90-95% of cases in children born with down syndrome, while the paternal nondisjunction is responsible for the rest of the cases (pg. 144). According to the Centers for Disease Control and Prevention (CDC), down syndrome has become more common and is more likely to affect babies who are delivered from older women versus younger, so as the mother’s age increases, so does the prevalence of down syndrome (2022). Behavioral risks, medical conditions such as gestational diabetes, or smoking and drinking have no correlation to the chances of delivering a child with down syndrome, it is simply genetics. Mrs. D.S. was 42 when she delivered her child, which is one of the risk factors for the development of Down syndrome. As a practitioner, I would provide both of the parents with supportive resources and materials as they navigate through the world of raising a newborn. I would also review the most common medical conditions that children with down syndrome are most likely to experience such as congenital heart defects, obstructive sleep apnea, hearing issues, eye diseases, and ear infections (CDC, 2022). I would also discuss the possibility of the child going through therapy services such as speech and physical therapy if warranted. It is understandable that the parents may have a more difficult time grasping why this would happen and what they can do to provide the best life for their child. It is important as practitioners that we provide the family with supportive resources and groups such as other parents raising children with Down syndrome so that they feel less alone. Also preparing the parents for what kind of testing their child may go through to rule out other congenital defects to provide a higher quality of life for the child may be helpful.
References:
Data and statistics on Down syndrome (2022, December 16). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html
McCance, K. L., Huether, S. E., Brashers, V. L., Rote, N. S. (2019). Pathophysiology: The biologic basis for disease in adults and children (Eighth ed.). Elsevier.
The most likely cause of this infant’s physical characteristics is Down Syndrome, resulting from trisomy of the twenty-first chromosome. Down Syndrome affects 1 in 800 live births. Infants with Down Syndrome present with distinctive facial appearances including low nasal bridge, epicanthal folds, protruding tounge, and flat low set ears. Other characteristics of Down Syndrome include poor muscle tone and short stature. In addition to these outward, physical characteristics, children born with Down Syndrome have an increased chance of congenital heart defects, an increased likelihood of developing leukemia, and an inability to fight off respiratory tract infections (McCance, 2018).
It is important to explain to the parents that their baby’s condition is not the result of anything they did or did not do. This condition is caused by a genetic alteration of the twenty-first chromosome in early embryotic development. Maternal age is one of the risk factors of having a child born with Down Syndrome. The risk significantly increases after 35 years of age. For women younger than 30, the risk of Down Syndrome is about 1 in 1000 to 1 in 2000 live births. By 45 years of age, the risk increases to 3-5% (McCance, 2018).
When delivering the diagnosis to the parents for the first time, it is important to refer to the child by name and use person-centered language. It is important to communicate that the baby has Down Syndrome, not that it is a “Down baby”. Parents should be given balanced information, relaying the challenging aspects of the syndrome as well as the more positive aspects. Although a positive, encouraging attitude should be used, it is important not to give false hopes or minimize the fears or disappointments the parents may feel. When educating the parents on the complications and comorbidities, try not to overwhelm them with long lists but present what is immediately ahead of them. They should also be reminded that most children with Down Syndrome are able to speak, walk, and achieve a decent level of independence despite reaching their developmental milestones later than other children (Gori, et al., 2023).
Receiving the news that your newborn baby has Down Syndrome immediately after birth is a lot to take in and may overwhelm new parents. With the right approach, we can help to alleviate some of their fears and restore the hope and joy a newborn baby brings.
Gori, C., Cocchi, G., Corvaglia, L., Ramaciere, G., Pulina, F., Sperti, G., Cagnazzo, V., Catapano, F., Strippoli, P., Cordelli, D., Locatelli, C. (2023). Down Syndrome: how to communicate the diagnosis.Italian Journal of Pediatrics, 49:18. https://doi.org/10.1186/s13052-023-01419-6
McCance, K. L., & Huether, S. E. (2018). Pathophysiology (8th ed.). Elsevier Health Sciences.
Use information provided and the “Discussion Forum Sample” to answer the following questions.
Scenario
Mrs. D.S. is a 42-year-old Caucasian female who was admitted to the delivery unit with labor pains. She was accompanied by her 44-year-old husband. Mrs. S. had been in relatively good health before her pregnancy. However, while pregnant she was diagnosed with gestational diabetes. Furthermore, her dose of thyroid hormone had to be adjusted several times during the last two trimesters. At time of admission, Mrs. S.’s blood pressure was 129/68 and her pulse was 70. Fetal heart rate was 140 beats/minute. Four hours after admission, Mrs. S. delivered a 37-week, 8-pound, 1-ounce baby girl.
The delivery room physician and nurse immediately noticed that the baby had a rather small head with a flat occiput, a broad and flat nasal bridge, folds of skin in the corners of the eyes, an upward slant to the eyes, a protruding tongue, and short fingers. There also was an excess amount of skin on the back of her neck.
Questions
Answer the following questions:
These physical characteristics are highly suggestive of some type of chromosome abnormality. What is the most likely cause of this infant’s physical characteristics? Explain your answer.
The parents struggle to understand what happened to their baby. “We don’t smoke, drink, or take drugs, so why did this happen?” the mother asks. How do you explain this infant’s condition to the parents?
