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PPM - Suspected Fetal Skeletal Dysplasia on Second ...
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The document is a comprehensive checklist for healthcare providers to follow when suspected fetal skeletal dysplasia is identified during a second or third trimester ultrasound. It ensures that all relevant aspects are considered, documented, and communicated during patient visits. Key steps include reviewing the patient's medical and family history, assessing exposure to teratogens, recording parental heights, and confirming gestational age.<br /><br />Further evaluations focus on previous ultrasound reports, genetic testing, and measurements of fetal femur and humerus to discern if they are below the 5th percentile or demonstrate abnormalities. If the long bones measure more than 3 SD below the mean, especially if head circumference is in the 75th percentile, discussions on the likelihood of skeletal dysplasia are proposed, along with an examination of fetal growth restriction and hydrops symptoms.<br /><br />Thorough measurements and documentation are required for various fetal components like the cranium, mandible, and long bones. Ratios like the thoracic circumference to abdominal circumference and femur length to abdominal circumference are analyzed, with specific values indicating potential lethality. Additional imaging techniques, such as 3D/4D ultrasound, CT, or MRI, might be considered.<br /><br />The document emphasizes the importance of genetic counseling referrals and discusses the option of diagnostic testing via amniocentesis, with patient counseling on the risks and benefits. It ensures follow-ups with related specialties like pediatric genetics and orthopedics, suggests regular ultrasound check-ups throughout the pregnancy, and considers pathology assessments postnatally.<br /><br />Preparations also include delivery and resuscitation planning, obtaining DNA or tissue from the affected individual for further study, and recommendations for parental testing if skeletal dysplasia is confirmed postpartum. The document outlines steps for postnatal confirmation and familial risk assessment for future pregnancies.
Keywords
fetal skeletal dysplasia
ultrasound assessment
genetic testing
teratogen exposure
parental heights
gestational age
fetal growth restriction
hydrops symptoms
genetic counseling
diagnostic testing
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