How Is Fetal Alcohol Syndrome Diagnosed?

Fetal alcohol syndrome is a spectrum of disorders that can occur in a baby that is exposed to alcohol before birth. The effects of alcohol exposure during fetal development can include physical, cognitive, and behavioral problems, with many individuals experiencing a mixture of these symptoms. Fetal alcohol syndrome is a spectrum of disorders, meaning that individuals with FAS may experience symptoms ranging from mild to severe, depending on certain factors. Individuals with FAS may experience physical defects such as abnormal facial features, a low body weight, a small head size, vision or hearing problems, and problems with their heart, kidneys, or bones. They may also experience neurological problems such as learning problems, coordination and balance difficulties, poor judgment skills, and rapidly changing moods. Individuals with FAS commonly experience social and behavioral differences, including difficulty relating to their peers, learning disabilities, trouble staying on task and a poor concept of time. Due to the ranging severity of symptoms and the fact that there are a number of different symptoms that may be present in individuals with fetal alcohol syndrome, it can be difficult to recognize. The team at the Special Olympics Arizona is breaking down the diagnosis process for fetal alcohol syndrome, including the tests and criteria necessary to confirm diagnosis.

Diagnosing Fetal Alcohol Syndrome

It can be difficult to diagnose fetal alcohol syndrome since there is no direct test that can confirm a fetal alcohol syndrome diagnosis and pregnant individuals may not always provide a complete and accurate history of all alcohol intake during pregnancy. Pediatric providers can often use the size of a child and specific physical signs and symptoms present throughout infancy and childhood development to make a diagnosis. Symptoms that are used to diagnose fetal alcohol syndrome spectrum disorders include:

Prenatal Alcohol Exposure

Alcohol consumption by a pregnant woman, which then passes through the umbilical cord to the fetus, is what causes fetal alcohol syndrome spectrum disorders. While an adult body is able to metabolize alcohol, a fetus is unable to do so, and it will stay in the system longer, interfering with the normal development of a fetus, particularly in the brain and nervous systems. Alcohol can kill cells in various parts of the fetus, resulting in abnormal physical development. In order to understand if the symptoms in a baby or child are caused by fetal alcohol syndrome, it is necessary to know if the baby was exposed to alcohol while in utero. Individuals will need to provide accurate information on the amount of alcohol that a fetus was exposed to throughout pregnancy in order for doctors to make an accurate diagnosis of fetal alcohol syndrome. If signs and symptoms are present and a mother confirms prenatal alcohol exposure occurred, it is likely that a child or baby can be diagnosed with FAS.

Central Nervous System (CNS) Problems

Central nervous system problems are commonly some of the first symptoms noticed in individuals with FAS. Structural problems with the CNS can manifest in the size of the head, with individuals with FAS often having a head circumference that is below the 10th percentile for their age and with clinically significant brain abnormalities. Neurological problems are common among individuals with FAS, as are functional problems such as intellectual deficits or cognitive delays. Problems with the central nervous system can range in symptoms and severity, and discussing these issues with a doctor to determine if they may be symptoms of FAS is important to ensure a proper diagnosis and treatment plan can be developed for your child.

Height and Weight Abnormalities

Babies or children with fetal alcohol syndrome may not develop on the same timeline as their peers, especially when it comes to height and weight. Individuals with FAS may have a very low body weight and will often be shorter than average height.

Abnormal Facial Features

One of the more recognizable symptoms of fetal alcohol syndrome are the abnormal facial features. Babies and children with fetal alcohol syndrome spectrum disorders may have a smooth ridge between the nose and upper lip, along with a very thin upper lip. They may also have smaller-than-average eyes. They may have a small head and a flat midface. A low nasal bridge is also a noticeable symptom that many individuals with FAS have.

What Are the Four Criteria Necessary for a Fetal Alcohol Syndrome Diagnosis?

In order to establish a consistent diagnosis for fetal alcohol syndrome, since there is no direct test to confirm diagnosis, doctors have come up with four necessary criteria to confirm a diagnosis in a baby or child. The four criteria that must be met in order to confirm a diagnosis of fetal alcohol syndrome spectrum disorders are:

Selected Facial Malformations

In order to have a confirmed FAS diagnosis, an individual must have all three common face abnormalities: a smooth philtrum, or a smooth ridge between the nose and upper lip, commonly called the Cupidâ€™s bow; a thin vermillion border, or a thin upper lip; and small palpebral fissures, or small eye openings.

Growth Retardation

Individuals must also be delayed in their growth with a low body weight and a small stature or height. The low body weight and height will be based on the average height and weight of individuals who are at the same age and stage of development as them.

Central Nervous System (CNS) Abnormalities

Individuals must have noticeable abnormalities in their central nervous system. This can include structural abnormalities, neurological abnormalities, or functional abnormalities.

Maternal Alcohol Consumption During Pregnancy

Maternal alcohol consumption during pregnancy does not need to be confirmed in order to confirm a FAS diagnosis, since it may occur that a mother is unable to share this information or will not share accurate information as to the amount of alcohol a fetus was exposed to in utero. A diagnosis can be made without this information; however, the most accurate diagnosis can be made if maternal alcohol consumption during pregnancy is confirmed by the mother.