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Trisomy Findings on Fetal Ultrasound
Aka: Trisomy Findings on Fetal Ultrasound, Aneuploidy Markers on Second Trimester Ultrasound
- See Also
- Nuchal Translucency
- Obstetric Ultrasound
- First Trimester Ultrasound
- Second Trimester Ultrasound
- Antenatal Screening
- Aneuploidy Screening
- First Trimester Education
- Second Trimester Education
- Pregnancy Risk Assessment
- Placental Cell-Free DNA
- Indications: Non-invasively assess trisomy risk
- Maternal age over 35 years
- Efficacy
- Trisomy risk Age >35 years
- Overall: 1 in 80
- With Negative Ultrasound: 1 in 400
- Ultrasound detects
- Trisomy 18: 100%
- Trisomy 21 Test Sensitivity: 50-60%
- Least accurate screening for Aneuploidy
- Follow positive Ultrasound testing with Second Trimester Quad Screening or Placental Cell-Free DNA
- Findings: Soft Markers of Aneuploidy on Second Trimester Ultrasound
- Choroid Plexus Cyst
- Echogenic intracardiac focus
- Clinodactyly
- Sandal Gap Toe
- Echogenic Bowel
- Hypoplastic Nasal Bone
- Pyelectasis
- Shortened Humerus
- Shortened Femur
- Single Umbilical Artery
- Thickened Nuchal Fold
- Ventriculomegaly
- Screening: Rating system to assess for Trisomy
- Scoring
- Nuchal Fold (5mm)
- Assess at level of Cerebellum and cisterna magna
- Not predictive after 21 weeks
- 2 Points
- Short femur length
- 1 Point
- Cystic Hygroma
- Seen in Turners Syndrome, Trisomy 21, Idiopathic
- 1 Point
- Septal defect or other heart defect
- 1 Point
- Choroid plexus cyst
- 1 Point
- Interpretation: Score associated with Trisomy risk
- Age <35: Score >= 2 points
- Age >35: Score >= 1 point
- Evaluation: Findings suggestive of Trisomy
- See Antenatal Screening
- See Aneuploidy Screening
- Consider Placental Cell-Free DNA
- Consider Amniocentesis with karyotype
- References
- LeFevre (2020) Am Fam Physician 101(8):481-8 [PubMed]