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Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10‐year cohort study
Author(s) -
Tjon Jill K.,
TanSindhunata Gita M.,
Bugiani Marianna,
Witbreuk Melinda M.,
Sluijs Johannes A.,
Weiss Marjan M.,
Pol Laura A.,
Weissenbruch Mirjam M.,
Knoop Bloeme J.,
Vries Johanna I.
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5411
Subject(s) - arthrogryposis multiplex congenita , in utero , medicine , arthrogryposis , muscle contracture , fetus , cohort , contracture , gestation , obstetrics , pediatrics , surgery , pregnancy , biology , genetics
Objective The diagnosis of fetal akinesia deformation sequence (FADS) is a challenge. Motor assessment is of additional value to advanced ultrasound examinations (AUE) for in utero FADS diagnosis before 24 weeks of gestation. Methods All consecutive fetuses with greater than or equal to two contractures on the 20 week structural anomaly scan (2007–2016) were included. Findings at AUE, including motor assessment were analysed and related to outcome. Results Sixty‐six fetuses fulfilled the inclusion criteria. On the basis of the first AUE, FADS was suspected in 13 of 66, arthrogryposis multiplex congenita (AMC) in 12 of 66, bilateral pes equinovares (BPEV) in 40 of 66, and Holt‐Oram syndrome in one of 66. On the basis of the first motor assessment, the suspected diagnosis changed in 19 of 66, in 13 of 66 worsening to FADS, six of 66 amelioration from FADS, and confirmed FADS in seven of 13. The result was 20 FADS, seven AMC, and 38 BPEV. Second AUE in 44 fetuses showed additional contractures in two of eight FADS, and one intrauterine fetal death (IUFD). The second motor assessment changed the diagnosis in three of 43, one worsening from BPEV into FADS, two ameliorations from FADS, and confirmed FADS in seven by deterioration of motility. The result was nine FADS, six AMC, and 29 BPEV. Conclusion The results suggest that motor assessment has additional value to distinguish between FADS, AMC, and BPEV.