Fetal Anal Incontinence Evaluated by Amniotic Fluid Digestive Enzyme Assay in Myelomeningocele Spina Bifida

Talabani, Hana; Dreux, Sophie; Luton, Dominique; Simon‐Bouy, Brigitte; Fiblec, Bernard Le; Col, Jean-Yves; Gadrey, Jean; Oury, Jean‐François; Müller, Françoise

doi:10.1203/01.pdr.0000180539.40399.93

Cited by 12 publications

(4 citation statements)

References 26 publications

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“…It has been hypothesized that normal smooth muscle development relies on intact innervation of these organs during gestation [ 31 ]. Evidence from human fetuses with MMC points to decreased innervation of the bowel and bladder wall muscles early in gestation [ 32 ], supporting early fetal repair with PMSC-ECM to rescue these functions. In rat models, innervation of bladder wall muscle begins as early as 18 days of gestation and increases throughout gestation [ 33 , 34 ].…”

Section: Discussionmentioning

confidence: 99%

Early investigations into improving bowel and bladder function in fetal ovine myelomeningocele repair

Theodorou

Jackson

Stokes

et al. 2022

Journal of Pediatric Surgery

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Section: Discussionmentioning

confidence: 99%

Early investigations into improving bowel and bladder function in fetal ovine myelomeningocele repair

Theodorou

Jackson

Stokes

et al. 2022

Journal of Pediatric Surgery

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“…One possible explanation for an increased ADC in the MMC fetuses is the increased water mobility due to extracellular edema and cell degeneration from the “second hit” in myelomeningocele pathogenesis. Although this is an ongoing area of research, there have been several studies detailing an increase in digestive enzymes within amniotic fluid of rats with MMC, as a possible mechanism for injury [ 33 , 34 ]. In human spinal cord studies, ADC signal has been shown to increase with age related spinal cord degeneration, explained at least partially by chronic ischemia and natural degenerative changes [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

Diffusion weighted imaging as a biomarker of retinoic acid induced myelomeningocele

et al. 2021

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Neural tube defects are a common congenital anomaly involving incomplete closure of the spinal cord. Myelomeningocele (MMC) is a severe form in which there is complete exposure of neural tissue with a lack of skin, soft tissue, or bony covering to protect the spinal cord. The all-trans retinoic acid (ATRA) induced rat model of (MMC) is a reproducible, cost-effective means of studying this disease; however, there are limited modalities to objectively quantify disease severity, or potential benefits from experimental therapies. We sought to determine the feasibility of detecting differences between MMC and wild type (WT) rat fetuses using diffusion magnetic resonance imaging techniques (MRI). Rat dams were gavage-fed ATRA to produce MMC defects in fetuses, which were surgically delivered prior to term. Average diffusion coefficient (ADC) and fractional anisotropy (FA) maps were obtained for each fetus. Brain volumes and two anatomically defined brain length measurements (D1 and D2) were significantly decreased in MMC compared to WT. Mean ADC signal was significantly increased in MMC compared to WT, but no difference was found for FA signal. In summary, ADC and brain measurements were significantly different between WT and MMC rat fetuses. ADC could be a useful complementary imaging biomarker to current histopathologic analysis of MMC models, and potentially expedite therapeutic research for this disease.

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“…In France, informed consent is adequate for samples collected as part of routine care, and local ethics committee approval is not required. AF-DEs, including ␥-glutamyltranspeptidase (GGTP), aminopeptidase M (AMP), and the intestinal isoform of alkaline phosphatase (iALP) were assayed (3,9 ). Results were expressed in percentiles previously defined for 10 000 control cases.…”

Section: Discussionmentioning

confidence: 99%

Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

Oca

Dreux²,

Gérard

et al. 2009

Clinical Chemistry

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Background: The large number of CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations and the existence of variants of unclear significance complicate the prenatal diagnosis of cystic fibrosis (CF). The aim of this study was to determine whether the pattern of amniotic fluid digestive enzymes (AF-DEs) could be correlated with the severity of CFTR mutations. Methods: The AF-DE pattern (γ-glutamyltranspeptidase, aminopeptidase M, and the intestinal isoform of alkaline phosphatase) was retrospectively analyzed in 43 AF samples. All fetuses presented 2 CFTR mutations, which were classified according to the severity of the disease: CF/CF (n = 38); CF/CFTR-related disorders (n = 1); and CF/unknown variant (n = 4). The relationships between clinical CF status, CFTR mutations, and AF-DE pattern were studied. Results: Of 38 severely affected CF fetuses, an “obstructive” AF-DE pattern was observed in 15 of 15 samples collected before 22 weeks, irrespective of the CFTR mutation (diagnostic sensitivity, 100%; diagnostic specificity, 99.8%). In the 23 fetuses evaluated after 22 weeks, the AF-DE pattern was abnormal in 7 cases and noncontributive in 16 (diagnostic sensitivity, 30.4%; diagnostic specificity, 99.8%). Of the 5 questionable cases (F508del/N1224K, F508del/L73F, 3849+10kbC>T/G1127E, F508del/S1235R, F508del/G622D), all were CF symptom free at 2–4 years of follow-up. The AF-DE pattern (<22 weeks) was typical in 3 cases but abnormal in the last 2 cases. Conclusions: AF-DE analysis is of value for prenatal CF diagnosis in classic forms of CF and could be helpful in nonclassic CF.

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Fetal Anal Incontinence Evaluated by Amniotic Fluid Digestive Enzyme Assay in Myelomeningocele Spina Bifida

Cited by 12 publications

References 26 publications

Early investigations into improving bowel and bladder function in fetal ovine myelomeningocele repair

Early investigations into improving bowel and bladder function in fetal ovine myelomeningocele repair

Diffusion weighted imaging as a biomarker of retinoic acid induced myelomeningocele

Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

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