If you have ever been around new first time parents and have any children of your own, you understand their elation upon hearing they’ve just delivered a healthy child with all 10 fingers and 10 toes. You understand why they grin from ear to ear every time someone mentions their baby or why their eyes twinkle when describing the baby’s first smile, first words, or first steps. But many of you also understand that look of horror when a pregnant woman returns from a doctor’s visit stating that something could be wrong with her baby.
In the United States, one out of every 33 babies is born with a problem that occurred during the baby’s development. These problems, commonly known as birth defects, usually occur during the first three months of the mother’s pregnancy. These defects can affect how the body appears and how it functions. Approximately 120,000 babies are born with birth defects each year per the Centers for Disease Control (CDC).
Two main categories of defects exist: structural and developmental. Structural defects include such abnormalities as club foot, cleft palate/lip, heart defects, or spina-bifida, a neural tube defect. If there is a problem with how a body part or system works, these are referred to as functional or developmental birth defects. Examples of these developmental defects include Down’s Syndrome, Prader-Willi Syndrome, or congenital blindness.
Cleft palates are generally described as congenital abnormalities of the lips and/or oral cavity that alter the normal facial structure and cause oromotor functionality issues. Females are affected twice as often as males with cleft palate. In the US, the reported incidence of cleft palates is 1-2/1000 live births. In the world, reported prevalence of cleft lip with or without cleft palate ranges from 3.4 to 22.9 per 10,000 live births. Cleft palates are the result of both genetic and environmental factors and probably began during disruption of cellular growth or migration.
Certain anti-seizure medications like topiramate and lamictal can increase the incidence of cleft palate. In addition, having a first degree family member with an oral cleft is associated with a 3-5% risk of oral cleft.
The complications of cleft palate are not just cosmetic but are nutritional, auditory, oral, and psychosocial. These children can potentially have difficulty eating which may result in their failure to thrive. The future potential for ridicule if not repaired is also a major issue as the child ages.
Down’s Syndrome (Trisomy 21), an example of a genetic birth defect, is caused by extra genetic material on chromosome 21. Cognitive impairments, cardiac abnormalities, and other medical abnormalities are the hallmarks of the disorder. Children with Down’s Syndrome have a distinct facial appearance: epicanthal folds, small head circumference, flat nasal bridge, and hypotonia. The major risk factor for this condition is advanced maternal age, 35 years or greater. Of the children with Trisomy 21, 80.1% of the women were greater than 35.
Prenatal diagnosis of many of these birth defects is done with ultrasound, laboratory tests, or via amniocentesis. Amniocentesis is a procedure where a needle, via ultrasound guidance, is placed through the uterus to obtain some of the fluid (amniotic fluid) from around the baby and the fluid is then tested for chromosomal abnormalities.
The risk of some disorders like spine bifida can be decreased, for example, by having pregnant mothers take a multivitamin daily along with folic acid. Avoiding alcohol and certain medications can also be helpful in preventing disorders. It is also known that early prenatal care can improve pregnancy outcomes as well.
As a primary care provider, I also advocate for pre- prenatal care which involves discussing your medical care with your provider prior to achieving pregnancy. In my experience, preparation and anticipation are essential components to having a healthy baby. Health issues like hypertension, diabetes, and obesity can be addressed. Medications can be optimized, changed, or discontinued to ensure the safety of the mother and baby.
Spring season reminds us of life because the grass is starting to look alive again, the flowers are blooming, and many of God’s living creatures are producing new offspring. The majority of the time, these cycles of life occurs without much intervention. But for our precious human babies, care and consideration is needed. Prenatal visits as soon as possible, avoiding toxic substances such as nicotine or illicit drugs, and regular monthly/bi-monthly care can improve the likelihood of a successful pregnancy.
Join the fight for our babies and consider donating to the March of Dimes.
Yours in Service,
Denise Hooks-Anderson, M.D.
Assistant Professor
SLUCare Family Medicine
yourhealthmatters@stlamerican.com
