Changing Dysmorphology of Trisomy 18 during Midtrimester

Bar‐Hava, Itai; Bronshtein, Moshe; Drugan, Arie

doi:10.1159/000263819

Cited by 5 publications

(1 citation statement)

References 10 publications

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“…There are no other reports on earlier identification of this anomaly. Serial ultrasound examinations by BarHava et al [9] failed to detect this subtle anatomical change until late in the 2nd trimester in another fetus. New bidimensional ultrasound imaging capabilities or three-dimensional ultrasound [10] may provide a noninvasive opportunity in confirming our endoscopic findings.…”

Section: Discussionmentioning

confidence: 93%

Ontogeny of Clenched-Hand Development in Trisomy 18 Fetuses: A Serial Transabdominal Fetoscopic Observation

Quintero¹,

Johnson

Mendoza

et al. 1999

Fetal Diagn Ther

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Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group. These variations result in radial or ulnar displacement of the tendons of extensor digitorum and digiti minimi, with overlapping of the fourth and fifth fingers radially and second finger in an ulnar direction. The ontogeny of these changes is unknown. We performed serial transabdominal thin-gauge fetoscopy in a patient with increased nuchal thickening at 12 weeks of pregnancy at the time of genetic testing and again at 14 weeks at the time of termination of pregnancy. Changes in the positioning of the fingers were not apparent at 12 weeks, but were evident at 14 weeks. The findings were beyond the resolution of ultrasound. We conclude that malpositioning of the fingers in trisomy 18 occurs some time between 12 and 14 weeks of gestation. Noninvasive confirmation of these findings may be possible with new and improved ultrasound imaging capabilities or perhaps with three-dimensional ultrasound.

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Section: Discussionmentioning

confidence: 93%