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Nuchal Translucency
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Nuchal Translucency
See Also
Antenatal Screening
Trisomy Findings on Fetal Ultrasound
Definitions
Nuchal Translucency
Posterior fetal neck lucency by
Ultrasound
Indications
Early
Antenatal Screening
for
Down Syndrome
and birth defects
Protocol
Timing: 11-13 weeks gestation
Technique
Ultrasound
used to measure the lucency of the posterior fetal neck
Measurement requires additional special training and certification
Precautions
Do not use Nuchal Translucency alone (combine with serum
Aneuploidy Screening
)
Exception:
Multiple Gestation
pregnancies (serum testing is inaccurate)
Abnormal Nuchal Translucency is associated with both
Aneuploidy
and structural defects
Obtain detailed
Fetal Survey
Ultrasound
at 18 to 22 weeks if abnormal Nuchal Translucency
Obtain fetal
Echocardiogram
if abnormal Nuchal Translucency (per ACOG guidelines)
Efficacy
Down Syndrome
detection
Test Sensitivity
: 70%
Test Specificity
: >95%
Differential Diagnosis
Increased Nuchal Translucency
Down Syndrome
and other
Genetic Syndrome
s
Major
Congenital Heart Defect
Great Vessel
defect
Fetal malformations, dysplasias, deformations and disruptions
False Positive
s (Nuchal Translucency increases 15-20% per week in normal pregnancies)
References
Anderson (2009) Am Fam Physician 79(2): 117-24 [PubMed]
Makrydimas (2005) Am J Obstet Gynecol 192(1): 89-95 [PubMed]
Salvedt (2005) Ultrasound Obstet Gynecol 25(6): 537-45 [PubMed]
Souka (2005) Am J Obstet Gynecol 192(4):1005-21 [PubMed]
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