The Antenatal Detection of Fetal Limb Anomalies

Abstract

The etiology of fetal limb abnormalities is very complex, involving different risk factors: chromosomal abnormalities, gene disorders, intrauterine factors, maternal diseases, or exposure to different risk factors. The prevalence of fetal limb anomalies is reported to be approximately 6 in 10,000 live births, and the impairments of the upper limbs seem to present a higher incidence in comparison to the inferior limbs, more often are affected unilaterally and on the right side in comparison to the left side, some being isolate or may associate other anomalies, as a part of an underlying syndrome. According to the current guidelines, the assessment of the fetal limbs should be performed in the late first and early second trimester. Three-dimensional ultrasound provides a better understanding of the fetal anomaly for the parents and helps a better counseling, and it is used to confirm the anomalies detected by the conventional ultrasound. In cases of treatable anomalies, a multidisciplinary approach involving an obstetrician, geneticist, neonatologist, pediatrician, and pediatric orthopedic surgeon is essential to improve the postnatal outcome. Ultrasound examination and genetic counseling for the parents has an important benefit since some conditions present a genetic inheritance, and the recurrence rate in further pregnancies is very high.

Sirenomelia With Anhydramnios: A Clue From the Movements of Fetal Limbs

“…After comparing the guidelines, published by various international societies, a significant variation was noted in the recommendations adopted as minimally required for evaluating fetal limbs. 19 The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) guidelines, as well as the National Health Service in the United Kingdom (NHS), the American College of Obstetricians and Gynecologists (ACOG), American Institute of Ultrasound in Medicine (AIUM), American College of Radiology (ACR), and Society of Radiologists in Ultrasound (SRU), promote assessing "fetal movement." However, only ISUOG has this parameter included in the routine sonographic survey of fetal limbs.…”