Related Experiment Videos
Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein
R M Hughes-Benzie1, J L Tolmie, M McNay
1Division of Genetics, University of Ottawa, Canada.
Insights
Simpson-Golabi-Behmel syndrome, a genetic disorder causing overgrowth, can potentially be diagnosed prenatally. Elevated maternal serum alpha-fetoprotein and specific fetal growth patterns are key indicators.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Medical Diagnostics
Background:
- Simpson-Golabi-Behmel (SGB) syndrome is an X-linked genetic disorder.
- Characterized by pre- and postnatal overgrowth, distinctive facial features, and organ and skeletal abnormalities.
Observation:
- A case report details an affected male diagnosed at 16 weeks' gestation.
- Elevated maternal serum alpha-fetoprotein (MSAFP) was noted during prenatal screening.
- Fetal ultrasound revealed disproportionate growth, including macrosomia, with a low head-to-abdominal circumference ratio and normal femur length.
Findings:
- The study highlights the potential of elevated MSAFP as a prenatal marker for SGB syndrome.
- Specific patterns of fetal overgrowth, such as macrosomia with altered circumference ratios, are observed.
Implications:
- These findings suggest that fetal overgrowth combined with elevated MSAFP can aid in the prenatal diagnosis of SGB syndrome.
- Early prenatal identification allows for timely genetic counseling and management planning.
Abstract:
Simpson-Golabi-Behmel (SGB) syndrome is an X-linked condition with pre- and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies. We report an affected male who presented at 16 weeks' gestation with elevated maternal serum alpha-fetoprotein (MSAFP). Fetal measurements at 20 and 31 weeks' gestation were disproportionate, with marked macrosomia but a low head to abdominal circumference ratio and normal femur length. Fetal overgrowth with elevated MSAFP may prove to be useful markers for the prenatal diagnosis of SGB syndrome.