The Importance Of Diagnosing Birth Defects

Birth defects,??particularly those of the blood vessels, account for the majority of infant deaths, especially after the first week of life. Congenital heart disease (CHD) — meaning defects of the heart –??is responsible for one-third of deaths between birth and the first year of life. Therefore, the diagnosis of CHD is critical in order to plan life-saving treatments, such as the proper place for the delivery, the type of delivery, and its timing. If it’s known in advance that an unborn baby has a heart problem and is delivered in a hospital that provides special care, its survival and future health will increase dramatically.

Who’s at risk for having CHD and which expectant moms should have further evaluation? Families who have a history of CHD — especially mothers, fathers, and siblings — should receive genetic counseling. Multiple medical studies over the past fifteen years have demonstrated the significance of genetics as a main culprit of CHD. Parents of a child with CHD have a??two percent to??three percent??chance of having another affected child. If a mother or father has CHD, a fetal cardiac echo (an ultrasound of the heart) is definitely warranted.

Because the treatment of CHD in many cases is surgical, there’s an increasing number of patients who have survived into adulthood and have ultimately become parents. Research has documented that 4.1 percent??of their children will have CHD. Children with mothers who have CHD are at a greater risk of inheriting the disease than if they have fathers with CHD. Mothers with cyanotic heart disease — that is, blood that is without oxygen that bypasses the lungs and goes directly to the blood vessels — also have a greater risk of having a baby with CHD.

Women at risk for having a baby with CHD include those who take medicine for seizures, lithium, drink alcohol, and use isotretinoin. Prenatal risk factors for CHD include abnormal fetal heart tones (especially bradycardia or a heart rate less than 100 beats per minute), a nuchal translucency fold of greater than 3.5 mm (this is a test done in the first trimester for Down syndrome), monochorionic (or identical) twins, and women who have had in-vitro fertilization. In fact, medical studies reveal that children conceived through IVF were three to 12 times more likely to have CHD then the general population.

By knowing your family history and risk factors you will be better prepared to determine if your baby has a cardiac defect. Remember, a healthy pregnancy doesna??t just happen — it takes a smart mother who knows what to do.