A standardized autopsy protocol for arthrogryposis (multiple congenital contractures)

Oberg, Kerby C.; Magaki, Shino; Hall, Judith G.

doi:10.1002/ajmg.c.31731

Cited by 5 publications

(5 citation statements)

References 24 publications

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“…This assessment is part of the advanced ultrasonographic examination including neurosonography, to assess the brain in axial, coronal, and sagittal planes. Secondly, record forms are presented for the post-mortem examination, highlighting the items for AMC and FADS in line with Oberg et al [41], Tables 2 and 3. There are 2 differences only, our examination includes no eye muscle samples and includes examination of all organs irrespective of syndromic findings.…”

Section: Methodsmentioning

confidence: 99%

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita

et al. 2021

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Introduction The majority of arthrogryposis multiplex congenita (AMC) and lethal forms of AMC such as fetal akinesia deformation sequence (FADS) cases are missed prenatally. We have demonstrated the additional value of fetal motor assessment and evaluation in a multidisciplinary team for the period 2007-2016. An applied care pathway for fetuses presenting with joint contracture(s) in one anatomic region (e.g. talipes equinovares), more than one body part with non-progressive contractures and motility (AMC) and with deterioration over time (FADS). Methods The multidisciplinary team of Amsterdam University Medical Centre Expertise Centre FADS and AMC developed the care pathway. Additional tools are provided including a motor assessment by ultrasound examination and postmortem assessment form. Results An eight-step care pathway is presented with a proposed timing for prenatal sonographic examination, genetic examinations, multidisciplinary meetings, prenatal and postnatal counselling of the parents by specialist also treating after birth, follow-up of prenatal and postnatal findings with counselling for future pregnancies. Discussion/conclusion The scheduled serial structural and motor sonograpahic assessment together with follow-up examinations and genetic analysis, should be tailored per prenatal centre per available resources. The multidisciplinary care pathway may pave the way to increase detection rate and diagnosis of isolated contracture(s), talipes equinovares with underlying genetic causes and the rare phenotypes AMC/FADS and prompt treatment after birth within expertise teams.

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Section: Methodsmentioning

confidence: 99%

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita

et al. 2021

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“…Autopsy and genetic workup, however, is appropriate since defining the cause will inform the parents about recurrence risk and reproductive options for further pregnancies. 40 � Targeted molecular testing may be indicated in presence of a family history when the causal variants in an affected family member were identified previously.…”

Section: What Are Options For Prenatal Genetic Testing and Diagnosis?mentioning

confidence: 99%

“…The prognostic value of prenatal molecular testing for lethal MCC disorders may be limited since they will often present with the recognizable clinical signs mentioned above predicting limited pregnancy outcome in the first trimester. Autopsy and genetic workup, however, is appropriate since defining the cause will inform the parents about recurrence risk and reproductive options for further pregnancies 40 Targeted molecular testing may be indicated in presence of a family history when the causal variants in an affected family member were identified previously. …”

Section: What Are Options For Prenatal Genetic Testing and Diagnosis?mentioning

confidence: 99%

Fetal arthrogryposis—what do we tell the prospective parents?

et al. 2023

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Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo-and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case. Key pointsWhat's already known about this topic? � Arthrogryposis, also termed multiple congenital contractures, and fetal akinesia are often missed prenatally, but can be detected by ultrasound early when looked for.� The etiology is extremely heterogeneous. There are a number of challenges for achieving a definite diagnosis during pregnancy and appropriately counsel parents for prognosis and management. What does this review add?� This review serves as an update for prenatal providers who are charged with detecting, diagnosing and counseling on congenital contractures and/or fetal akinesia prenatally. � This article is not a substitute for interdisciplinary expert opinion, consultation and counseling in the individual patient or family. | INTRODUCTIONCongenital contractures in the newborn are not rare, ranging from 1/ 100 to 1/200 for some type of single contracture such as clubfoot and hip dislocation or multiple congenital contractures. The presence of multiple congenital contractures is generally termed arthrogryposis. Arthrogryposis, also called arthrogryposis multiplex congenita (AMC), or now referred to as multiple congenital contractures (MCC), is a descriptive term for conditions of a highly heterogeneous etiology, which may lead to or be associated with MCC as a clinical sign. 1,2 MCC, however, may have specific patterns of limb involvement and/or additional clinical signs pointing to the underlying etiology or even a specific diagnosis. The prognosis may substantially differ depending on the etiology. For pregnancy and family counseling the 798

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“…Autopsy and histopathological examinations help delineate changes in AHCs in the spinal cord and changes in the brain not seen by ultrasound. A standard autopsy protocol has been recommended for fetal and neonatal cases (Oberg et al, 2019).…”

Section: Workup Suggested For Antenatally Diagnosed Cases Of Pregnanc...mentioning

confidence: 99%

Amyoplasia in monochorionic monozygotic pregnancy following interstitial laser

Gupta

Sharma

2022

American J of Med Genetics Pt A

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Amyoplasia is a specific form of arthrogryposis, without any genetic cause. Six to ten percent of amyoplasia cases are one of the monozygotic twins, with the other twin being normal. Failure of maturation of anterior horn cells (AHCs) due to ischemic injury has been postulated as the primary pathological change, leading to arrest in the development of muscle fibers supplied by the affected AHCs with the typical limb positioning seen in amyoplasia. Twin‐to‐twin transfusion syndrome (TTTS) is an important risk factor for ischemic injury in monozygotic twin pregnancies. We present a case of monochorionic diamniotic twin pregnancy with features of TTTS at 12 weeks who underwent interstitial laser followed by the development of lower limb akinesia in the surviving fetus. Possible causes of amyoplasia are discussed.

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A standardized autopsy protocol for arthrogryposis (multiple congenital contractures)

Cited by 5 publications

References 24 publications

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita

Fetal arthrogryposis—what do we tell the prospective parents?

Amyoplasia in monochorionic monozygotic pregnancy following interstitial laser

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