First Trimester Ultrasound Diagnosis of Lethal Multiple Pterygium Syndrome

Abstract

Objective: Diagnosis of lethal multiple pterygium syndrome in the first trimester of pregnancy. Methods: A 38-year-old woman attended our ultrasound (US) clinic at 11.2 weeks gestation. She has had two previous stillbirths affected by lethal multiple pterygium syndrome. Transabdominal and transvaginal US were performed and identified a recurrence. Autopsy findings are compared to the fetal US findings. Results: Fetal US showed a markedly increased nuchal translucency, fixed flexion deformities of the elbows and knees bilaterally, cutaneous webs across both elbow joints and absent fetal movements. The patient decided to terminate the pregnancy and a D&C was performed. Pathology of intact fetal parts showed flexion deformity of the right elbow with a cutaneous web, and ulnar deviation of the right wrist. Conclusion: Increased nuchal translucency, absent limb movements, multiple joint contractures and cutaneous webs on US allowed the diagnosis of lethal multiple pterygium syndromes in the first trimester of pregnancy.

Diagnosis of Fetal Limb Abnormalities Before 15 Weeks

“…Previous studies have described first-trimester diagnosis of multiple limb abnormalities, including long bone shortening or aplasia, absent digits, syndactyly, abnormal positioning of wrists and ankles, club hands and feet, overlapping digits, and fused lower extremities. 7,9,[19][20][21][22][23] McEwing et al 7 previously reported the earliest diagnosis of osteogenesis imperfecta type II (9 weeks 3 days), also included in this study. 7 Our data corroborate these findings with the detection of absent limbs (Figures 3 and 4), shortened or missing long bones (Figures 2 and 5), fused extremities, club hands and feet (Figure 1), clenched hands, and overlapping digits ( Figure 6).…”

Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography

“…[45] However, many other chromosomal syndromes may also present these ultrasound markers. [6] For this reason, in most cases, it is only possible to suspect LMP at a more advanced stage of pregnancy, when the joint contractures become more evident, along with absence of normal fetal movement.…”

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

“…The presence of increased nuchal translucency or nuchal oedema and hydrops, lung hypoplasia, pterygia, oligo‐/polyhydramnios, growth restriction, CNS malformations including microcephaly and enlargement of ventricles are usually indicative for a severe, often lethal, condition, particularly if detected in the first or early second trimester (Ajayi, Keen, & Knott, ; Gundogan, Fong, Keating, Pierre‐Louis, & Chitayat, ; Hall, , ; Hoellen et al, ). AMC may also occur in association with isolated brain malformations as a consequence of neurological dysfunction.…”