Testing for fetal alcohol syndrome helps identify individuals who may have been affected by alcohol exposure before birth, allowing for interventions that can improve their well-being.

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Fetal alcohol syndrome (FAS), also called Fetal alcohol spectrum disorder (FASD), is a neurodevelopmental disorder that occurs when a baby is exposed to alcohol in the womb. This exposure can lead to a range of physical, cognitive, and behavioral issues.

Testing for FAS is crucial for an accurate diagnosis, allowing for early intervention and support. The testing process typically involves a thorough evaluation, including a review of medical history, developmental and behavioral assessments, physical examination, and other important components.

Testing for fetal alcohol syndrome (FAS) can lead to early diagnosis, improving access to treatment and support. It can also help identify other health issues and developmental delays, enabling families to access the right help and support.

Undiagnosed FAS in adults can often lead to symptoms being mistakenly linked to other causes, especially when symptoms are mild or when proper screening wasn’t done earlier in life.

Getting tested for FAS as an adult can help pinpoint cognitive and behavioral challenges stemming from prenatal alcohol exposure. This knowledge enables healthcare professionals to tailor interventions, leading to improved overall well-being.

Recent studies suggest that FASD may be more common in the United States than previously assumed, underscoring the importance of heightened awareness, accurate diagnosis, and increased support for affected individuals.

On a global scale, the FASD is estimated to affect 8 per 1,000 individuals.

Diagnosing FAS involves several steps, as there isn’t a single test for it. To diagnose FAS, doctors typically:

  • Check physical features linked to FAS, like a smooth philtrum and thin upper lip.
  • Assess developmental milestones, thinking skills, and behavior.
  • Ask about the birth parent’s alcohol use during pregnancy.
  • Look for learning issues, attention problems, and impulsive behavior.
  • Use MRI or CT scans to check brain structure.
  • Do general health tests and check for other medical issues.
  • Evaluate cognitive function, emotions, and social skills.
  • Consider genetic testing to rule out other conditions.

Research shows that genetic testing, particularly chromosomal microarray analysis (CMA), may be beneficial in individuals being evaluated for FASD.

Genetic testing may also be considered to rule out other genetic conditions that could be contributing to the child’s symptoms.

FAS testing is generally performed in children. The main way a FAS test is performed is through a physical exam of the child and an interview with parents, caregivers, teachers, or others who interact with the child.

According to the American Academy of Pediatrics, the following criteria are used to diagnose FAS and FASD.

History of prenatal alcohol exposure at any point during pregnancy:

  • No amount of alcohol intake is considered safe during any trimester of pregnancy.
  • Exposure may occur before pregnancy is known.
  • All forms of alcohol (beer, wine, and liquor) pose similar risk.
  • Drinking 4 or more drinks at one time causes an increased dose-related risk to a developing fetus.

Developmental, cognitive, or behavioral concerns are considered, such as:

  • deficits in cognitive, developmental, or executive functioning
  • motor skill delays
  • self-regulation problems like self-soothing and sleep
  • delayed adaptive skills like difficulties with self-care, social skills, or daily living skills
  • behavior difficulties in older children

Dysmorphic cardinal facial features, including:

  • smooth philtrum (the ridge under the nose and above the lip)
  • a thin upper lip (referred to as a thin vermillion border)
  • reduced palpebral fissure length (the distance from the inner corner to the outer corner of the eye)

Growth deficits and structural anomalies, such as confirmed prenatal growth deficiency, postnatal growth deficiency, or both, such as:

  • lower-than-average height, weight, or both
  • smaller head (circumference of less than 10th percentile)
  • heart defects
  • cleft palate

Preparing for FAS testing can be helpful. It’s important to gather any relevant medical records, including prenatal care records and information about the birth parent’s alcohol use during pregnancy.

During testing for FAS, both children and adults can expect a comprehensive evaluation that includes various assessments and interviews. Here’s what you can generally expect:

  • Medical history review: Evaluation of the individual’s medical history, including prenatal care records, to assess potential risk factors or exposures during pregnancy.
  • Developmental and behavioral assessments: Observations and tests to evaluate cognitive abilities, motor skills, language development, and behavior.
  • Physical examination: Examination to check for facial abnormalities or growth deficiencies associated with FAS.
  • Neurological assessment: Evaluation of brain function, including reflexes, coordination, and sensory processing.
  • Psychological evaluation: Assessment of emotional and behavioral functioning and identification of any mental health concerns.
  • Speech and language assessment: Evaluation of communication skills and identification of any speech or language delays.
  • Parent or caregiver interviews: Gathering information about the individual’s early development, behavior, and exposure to alcohol during pregnancy.
  • Educational and vocational assessment: Assessment of educational and vocational history for adults to understand their current functioning and support needs.

The results of FAS testing are used to diagnose FASD, which helps healthcare professionals develop tailored treatment plans. These plans may include behavioral interventions, educational support, and medical management to address the individual’s specific needs.

How do I get tested for fetal alcohol syndrome?

If you’re considering getting tested for FAS, you can start by reaching out to your primary healthcare professional. They can help guide you to specialists or clinics that can provide a more comprehensive evaluation if needed.

An FAS evaluation may include a review of your medical history, developmental and behavioral assessments, physical examinations, and possibly genetic testing.

What are the criteria necessary for a fetal alcohol syndrome diagnosis?

The criteria necessary for a diagnosis of FAS include:

  • prenatal or postnatal growth deficiency (≤ 10th percentile for head circumference, age, and gender for height or weight or both)
  • three specific facial abnormalities: smooth philtrum, thin vermillion border (thin upper lip), and reduced palpebral fissure length
  • any of a range of recognized neurodevelopmental or neurobehavioral conditions
  • additional features that occur with increased frequency in individuals with FASD, such as epicanthal folds, “railroad track” ears, clinodactyly, and “hockey stick” palm crease

How would a person determine that a baby has fetal alcohol syndrome?

The most obvious features of FAS in a baby can include facial changes — like a smooth philtrum, thin upper lip, and short eye openings, as well as growth delays and developmental issues.

Testing for FAS is essential to identify issues related to prenatal alcohol exposure. The evaluation covers growth, facial features, and neurological and behavioral aspects. Tailoring interventions based on these results can significantly improve outcomes.

If you’re considering testing, know that a thorough evaluation can pave the way for personalized interventions and support, leading to improved outcomes and a better quality of life.