Being pregnant is an exciting time, but it can be unpredictable like everything in life. Birth defects are any abnormality that is present at birth. They can be the result of genetic differences or environmental exposures. They are fairly common – in fact, 3-4% of babies are born with some birth defect each year. They can involve almost any part of the body and range from mild to severe. Since January is National Birth Defects Awareness Month, Onsite would like to bring awareness to the three most common birth defects in the United States.
Congenital Heart Defects
A congenital heart defect (CHD) is a structural problem of the heart that develops in a baby before birth. Multiple heart defects vary from simple to complex, but most can be diagnosed prenatally or in early infancy. How do you know if your child has a heart defect? Before birth, structural heart problems can show on general ultrasounds or a fetal echocardiogram (a more specialized ultrasound to look at the baby’s heart). After delivery, some common symptoms seen in a baby are excessive tiredness when feeding, labored breathing, or bluish skin discoloration (known as cyanosis). However, some defects have no symptoms. Most complex defects require surgical intervention or other invasive procedures to help correct the problem and prevent complications in the future. Though some procedures cannot fix heart problems entirely – they can improve the heart’s function and blood flow.
Cleft lip and/or Cleft palate
Cleft lip and cleft palate are conditions in which the lip and roof of the mouth (known as the palate) do not form properly. A baby can have a cleft lip and cleft palate at the same time. This can be present with a genetic syndrome, other structural defects, or in isolation. The exact cause is unknown, but sometimes environmental exposures (e.g., certain medications) during pregnancy can influence the cleft lip or palate development. These defects often require several surgical procedures during the first 12-18 months of life and additional interventions as the child get older.
Down Syndrome
Down syndrome, also known as Trisomy 21, is a genetic condition caused by an extra copy of genetic material from chromosome 21. This leads to various mental and physical differences in a baby’s development. Doctors can perform different tests to diagnose Down Syndrome while the mother is pregnant. Testing is recommended for mothers over 35 years old or those with other risk factors. Heart defects are commonly present at birth, and there is a higher risk for other medical conditions as the child grows (e.g., sleep apnea, eye problems, thyroid issues, etc.). Down Syndrome is a lifelong condition that requires therapy (speech, occupational, and physical) and additional preventative screens for long-term support.
Although birth defects are not preventable, there are steps that a mother can take to help decrease the chances of certain birth defects. Below are some recommendations for mothers.
Get regular obstetrical care during your pregnancy: Once you discover you are pregnant, seek out an obstetrician or OB/GYN to start prenatal care. Early medical care can ensure that you receive critical testing and medical advice to facilitate a healthy pregnancy and safe delivery.
Take your prenatal vitamins: Prenatal vitamins have additional nutrients beyond what an average multivitamin includes. A pregnant woman needs more iron, calcium, folic acid, and other essential minerals as building blocks for their developing baby. Deficiencies in specific vitamins or minerals can lead to birth defects or cause maternal problems that impact the baby.
Know your family history: It is helpful to know if any genetic problems run in your family. This information is valuable to the obstetrician, who can do additional testing or consult with specialists (e.g., a geneticist). Testing can determine whether your baby has inherited the condition. This also provides you with the knowledge to help prepare for what to expect with your child.
Remember, all you can do is your best. Obtain early healthcare and keep yourself healthy through good dietary habits and exercise. Your medical provider will provide you with the support you need and help guide you through the process. We wish you happiness and health in your journey for any pregnancy journey.
