Tesi di specializzazione (5 anni)
In utero ultrasound diagnosis of fetal extremity anomalies
MEDICINA CLINICA E SPERIMENTALE
Corso di studi
GINECOLOGIA ED OSTETRICIA
relatore Prof.ssa Strigini, Francesca Anna Letizia
- fetal ultrasonography
- prenatal diagnosis
- fetal extremities
Data inizio appello
Data di rilascio
Limb anomalies are often missed on prenatal sonography, and this is<br>particularly true with regard to hand or foot defects. It is well known that<br>phalange anomalies can be extremely difficult to diagnose in utero. In a large<br>number of cases these abnormalities are isolated, but they can be frequently<br>associated with other fetal anomalies, for example malformations or<br>chromosomal disorders.<br>The aim of the present study was to evaluate the accuracy of targeted<br>sonography in detecting and describing limb defects.<br>We reviewed 80 consecutive pre- and / or post- natal diagnoses of fetal /<br>neonatal deformities of the extremities in pregnant women who had received<br>an ultrasound scan in the referral center of the University of Pisa between<br>January 2002 and May 2017. All cases were reviewed by the clinical geneticist,<br>in order to obtain the appropriate diagnosis selecting the correct genetical tests.<br>More than half of the limb anomalies were represented by abnormal limb<br>attitude (47 out of 80). In 41 fetuses the abnormal limb attitude was represented<br>by clubfoot / feet, whereas 6 showed an abnormal attitude of all four<br>extremities without any structural or bony malformation.<br>5<br>At neonatal or post-mortem examination, 6 fetuses showed agenesis of one<br>hand (n=5) or both feet (n=1). The remaining cases consisted of various types<br>of finger or toe malformations, such as polydactyly (n=7), syndactyly (n=2) or<br>finger / toe agenesis(n=4), which were for the most part combined together,<br>and were grouped in the present study as “complex” anomalies (n=13).<br>Overall, limb anomalies affected only the feet more frequently than only the<br>hands (47 vs 16, p < 0.0001); most of them were clubfoot (n=41), associated<br>with neural tube defects in 8 fetuses. Foot anomalies were bilateral more<br>frequently than hand anomalies (26 / 47 vs 4 / 16; p < 0.0001).<br>Hands and feet were concurrently involved in 16 cases, which mainly consisted<br>in abnormal attitude (6 cases, all forms of arthrogryposis), or “complex” (8<br>cases).<br>A syndromic form was diagnosed in 21 fetuses, out of which 9 had a<br>chromosomal anomaly, and 6 cases received a specific diagnosis confirmed by<br>molecular biology. Fetuses with anomalies of both upper and lower extremities<br>had a syndrome more often than fetuses with anomalies of only feet or only<br>hands (11 / 16 vs 10 / 63, p < 0.0001).<br>Ultrasonographic sensitivity for anomalies of fetal extremities was 79.7%, with<br>a positive predictive value of 98%; the only false positive result was a<br>diagnosis of clubfoot in a fetus spontaneously miscarried at 15 weeks of<br>6<br>gestation. On the whole, sonographic anomalies were correctly recognised in<br>90.5% of fetuses that resulted to have a syndrome at genetic tests, while in nonsyndromic<br>fetuses the percentage of identification was 71.2%.<br>However, the sensitivity varied according to the different anomalies:<br>ultrasound detection was 36 / 41 for clubfoot, 5 / 6 for arthrogryposis, and 6 /<br>6 for agenesis of the whole extremity. By contrast, 4 cases out of 13 in the<br>group of “complex” anomalies eluded ultrasound prenatal diagnosis.
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