Abnormal first-trimester fetal nuchal translucency and amniotic band syndrome

Abstract

We report a case of amniotic band syndrome diagnosed prenatally by serial sonographic examinations. Our initial sonographic image showed a large fetal nuchal translucency (NT) at 12 weeks' gestation. Repeated fetal ultrasound images revealed an amniotic band and right upper limb anomaly. Fetal MRI at 19 weeks' gestation revealed right forearm hypoplasia and pseudosyndactyly. The fetus was prenatally diagnosed with amniotic band syndrome and was suspected of having severe functional impairment of the deformed limb. The parents decided to terminate the pregnancy at 21 weeks' gestation. In fetuses with aneuploidy and various structural and genetic abnormalities, the NT thickness is increased in the first trimester. As far as we are aware, this is the first case report of increased NT and limb anomaly associated with amniotic band syndrome. In chromosomally normal fetuses with increased NT, intensive sonographic follow-up should provide grounds for a precise antenatal diagnosis.

A case of body stalk anomaly: the value of adding fetal magnetic resonance imaging to ultrasonography for perinatal management

“…Currently, ultrafast magnetic resonance examinations can produce high-resolution images that are not affected by artifacts of fetal movement, and have been developed for accurate fetal diagnosis [14]. Re- cently, early prenatal diagnosis of fetal abnormalities using MRI has been reported, particularly for multiple anomalies with poor prognosis [15,16]. In the present case, MRI findings allowed the parents to have a better visual perception of these conditions.…”

Two case reports

“…Other limb malformations caused by congenital teratogenic factors such as fetal chromosomal abnormalities are usually bilaterally symmetric, which can be distinguished from ABS. [12,13] Our study had some limitations. First, owing to the rarity of ABS, we did not have a large sample.…”