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Birth Defects Explained – Q&A with Nurse Practitioner Susan Angelicola

Last updated: Jan 10, 2020

Birth defects are common sometimes critical conditions that occur before birth and affect many babies born each year in the United States and across the world. Birth defects can be detected during pregnancy, at birth or even during early childhood. The cause of many birth defects is unknown, but there are things moms can do to increase their chances of having a healthy baby.

To help us learn more about these structural changes and their effects is Susan Angelicola, MSN, APN, member of Summit Medical Group’s Obstetrics/Gynecology team. In the below Q&A, Susan explains what birth defects are, how they are identified, some known causes and the ways they may affect the health and development of a baby.

Q. What are birth defects?

A. Birth defects are common anatomic or physical changes present at birth that can affect any part of the body.  Every year, approximately 120,000 babies are born with a birth defect in the United States. They can affect how the body looks or works and can be mild or severe. The baby’s health and well-being may or may not be affected based on what organ is affected and the severity of the defect. 

Q. How/When are birth defects identified?

A. Birth defects can be found before birth or any time after. However, most are discovered within the first year of life.  Before birth, defects may be identified with obstetric ultrasound or other imaging studies such as a fetal echocardiogram. A blood test completed during pregnancy, the maternal serum alpha fetoprotein, may also show that a baby could be at risk for certain birth defects. 

Q. What are the major causes?

A. For most birth defects, the cause is unknown. It is thought that most defects are due to a mix of environmental - such as exposure to certain substances or drugs - and genetic factors. Most birth defects occur in the first three months of pregnancy, when the baby’s organ systems are forming.

Women over the age of 35 during pregnancy as well as those with a family history of birth defects may be at increased risk.

Q. What are some common birth defects?

A. Some common birth defects include:

Congenital heart defects - These are the most common defect in the United States. These heart defects can affect how the blood flows through the chambers of the heart and/or how blood is circulated throughout the body. Often, a heart defect is seen on a routine obstetric ultrasound, but sometimes more advanced imaging is necessary. In other cases, a heart defect may not be discovered until a baby is born. About 25 percent of babies born with a heart defect will require a surgical or other intervention.

Down syndrome – Down syndrome is the most common birth defect affecting a baby’s chromosomes. Specifically, a baby will have an extra chromosome. There are certain physical features that may be associated with Down syndrome such as a short neck, a flattened face or small ears. These features may or may not be visible on routine obstetric ultrasound. There may or may not be other birth defects, such as heart defects noted. The severity of Down syndrome is different for each affected individual.

Orofacial defects - These include cleft lip and/or cleft palate. This means that the baby's lip or mouth or both have not formed properly. These birth defects may or may not be visible on obstetric ultrasound. They may impact a baby's ability to eat properly. If necessary, surgical repair can correct these defects.

Central nervous system or neural tube defects - The neural tube is what becomes a baby's brain and spine; it forms very early in pregnancy, between 4-6 weeks. There are varying degrees of severity for these types of birth defects (which include Spina Bifida) and depending on the severity, surgical intervention may be necessary. Taking folic acid before pregnancy helps to prevent neural tube defects. 

(With all birth defects, the degree of severity varies greatly – with some requiring no intervention, some requiring observation only, and others requiring surgical intervention.)

Q. Can birth defects be prevented?

A. Many birth defects cannot be prevented. However, some things may increase the risk of defects. For example, drinking alcohol or taking “street” drugs during pregnancy or using certain medications during pregnancy such as Isotretinoin (used to treat acne) can increase risk. Certain medical conditions such as having uncontrolled diabetes or being morbidly obese may also increase the risk for defects, specifically heart defects. 

Taking folic acid, a B vitamin (available over the counter) at least 3 months pre-conception and during pregnancy helps prevent specific birth defects such as spina bifida or other abnormalities of the abdominal wall.

Parents should discuss any concerns with their OBGYN and/or baby's pediatrician should they be concerned a birth defect may be present.