Abstract

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.
LanguageEnglish
JournalPrenatal Diagnosis
DOIs
Publication statusPublished - 2019

Cite this

@article{ee50ed3bffcf44cda83d2dfba41d0990,
title = "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",
abstract = "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.",
author = "Tjon, {Jill K.} and Tan-Sindhunata, {Gita M.} and Marianna Bugiani and Witbreuk, {Melinda M.} and {van der Sluijs}, {Johannes A.} and Weiss, {Marjan M.} and {van de Pol}, {Laura A.} and {van Weissenbruch}, {Mirjam M.} and {van der Knoop}, {Bloeme J.} and {de Vries}, {Johanna I.}",
year = "2019",
doi = "10.1002/pd.5411",
language = "English",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",

}

TY - JOUR

T1 - 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

AU - Tjon, Jill K.

AU - Tan-Sindhunata, Gita M.

AU - Bugiani, Marianna

AU - Witbreuk, Melinda M.

AU - van der Sluijs, Johannes A.

AU - Weiss, Marjan M.

AU - van de Pol, Laura A.

AU - van Weissenbruch, Mirjam M.

AU - van der Knoop, Bloeme J.

AU - de Vries, Johanna I.

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85061245871&origin=inward

UR - https://www.ncbi.nlm.nih.gov/pubmed/30578734

U2 - 10.1002/pd.5411

DO - 10.1002/pd.5411

M3 - Article

JO - Prenatal Diagnosis

T2 - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

ER -