shortened femur

Shorted fetal femur is a morphological descriptor and is usually defined when the femoral length falls below the 5 centile for gestational age (some define it when it is under the 2.5 centile ) or less than 0.91 predicted by the bi-parietal diameter. It can occur in isolated or in association with a number of other anomalies.

Epidemiology

According to the former definition (e.g. using the 5 centile), the estimated incidence is at 5% of pregnancies.

Pathology

Associations

Recognized associations include

• aneuploidic syndromic
  • trisomy 21 - Down syndrome (conflicting evidence ): it is sometimes considered as a soft marker for aneuploidic anomalies )
  • trisomy 22
• non-aneuploidic syndromic
  • fetal skeletal dysplasia(s)
  • femur-fibular-ulna complex
  • femoral-hypoplasia unusual facies syndrome
• non-syndromic
  • intra-uterine growth restriction (IUGR)

Significance

If detected in the 2 trimester, a careful search for any other fetal anomalies as well as a follows up scan later in the pregnancy is often recommended.

Prognosis

The prognosis can be variable depending on the presence of associated anomalies

Siehe auch:

• Down-Syndrom
• Skelettdysplasie
• Intrauterine Wachstumsretardierung
• Trisomie 22
• soft marker

und weiter:

• antenatal features of Down syndrome
• shortened fetal long bones
• soft antenatal markers on ultrasound