Molecular insights into myelomeningocele via proteomic analysis of amniotic fluid.

Despite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Biochemical analysis of 61 AF samples from MMC fetuses was compared with 45 healthy fetuses' samples.

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines.

Aim: This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines.

Methods: This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM.

Antenatal description of large 4q13.2q21.23 deletion and outcomes.

Background: 4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint.

Postnatal outcome of children with antenatal colonic hyperechogenicity.

Objective: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis.

Method: We carried out a French multi-centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated.

Fetal intestinal loop dilatation: Follow-up and outcome of a series of 133 consecutive cases (the DILDIG study).

Objectives: To define the prognostic markers of fetal dilated bowel loops.

Methods: National non-interventional study of 133 consecutive prenatal observations of dilated loops including ultrasound examinations, complementary laboratory tests, magnetic resonance imaging (MRI), outcomes, and postnatal diagnosis.

Results: One hundred twenty seven cases were classified according to outcome: Group 1, very severe (n = 43), Group 2, children needing specific care (n = 39), and Group 3, healthy children (n = 45).

[Discordant Down syndrome risk calculation with low maternal serum markers: About five cases of digynic triploidies].

Objective: We compare the risk of Down syndrome among five patients carrying a foetus with digynic triploidy and suggest a course of action for these particular serological profiles.

Methods: The concentrations of the different markers used are transformed into multiples of the median by using each of the three software types present on the French market which then determine the risk of Down syndrome.

Results: For comparable biochemical and ultrasound profiles, the risk of Down syndrome turns out to be vastly different depending on the type of software employed.

[Uncertainty of measurement and result from a complex calculation: about the risk of fetal Down's syndrome by maternal serum markers].

Screening for fetal Down's syndrome has the peculiarity of combining the biochemical assay of 2 or 3 serum markers with the risk associated with maternal age. If the accuracy of measurement of each parameter is known by the biologist, the uncertainty of the ultimate risk to the patient is not. Indeed, the means of risk calculation involve numerous multi-parameter equations which are not practical for daily use.

Cost-effectiveness threshold of first-trimester Down syndrome maternal serum screening for the use of cell-free DNA as a second-tier screening test.

Introduction: We aimed to identify the most relevant cost-effectiveness threshold of first-trimester Down syndrome (DS) maternal serum screening (T21T1) for the use of cell-free DNA (cfDNA) as a second-tier test in the French context.

Method: A cost-effectiveness analysis was performed on 108,121 singleton pregnancies using a simulation model. The threshold of T21T1 screening was ranged from 1/51 to 1/1,000 in steps of 1/50.

Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.

Objective: To identify favorable renal histology in fetuses with early severe lower urinary tract obstruction (LUTO) and determine the best timing and selection criteria for prenatal surgery.

Methods: This multicenter, retrospective study included male fetuses with severe LUTO which died before 24 weeks of gestation during the period January 2000 to December 2018. Age-matched controls were used as reference standard for renal histology.

Mapping of the amniotic fluid proteome of fetuses with congenital anomalies of the kidney and urinary tract identifies plastin 3 as a protein involved in glomerular integrity.

Congenital anomalies of the kidney and the urinary tract (CAKUT) are the first cause of chronic kidney disease in childhood. Several genetic and environmental origins are associated with CAKUT, but most pathogenic pathways remain elusive. Considering the amniotic fluid (AF) composition as a proxy for fetal kidney development, we analyzed the AF proteome from non-severe CAKUT (n = 19), severe CAKUT (n = 14), and healthy control (n = 22) fetuses using LC-MS/MS.

Evaluation of Sequential Urine Analysis when Selecting Candidates for Vesicoamniotic Shunting in Lower Urinary Tract Obstruction.

Objective: The objective of our study was to assess the utility of sequential fetal urine analysis in severe lower urinary tract obstruction (LUTO) when selecting cases suitable for vesicoamniotic shunting.

Material And Methods: This was a retrospective cohort study of cases of severe LUTO treated in our fetal medicine center from 1994 to 2013. Two fetal bladder samples were taken 24-48 h apart to assess renal function.

Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.

Objective: Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a misdiagnosis of Bartter syndrome. The aim of this study was to study the value of a prenatal biochemical pattern in the case of suspected CDD.

Comparison of the amniotic fluid and fetal urine peptidome for biomarker discovery in renal developmental disease.

Production of amniotic fluid (AF) is view as predominately driven by excretion of fetal urine (FU). However, the origin of AF peptides, often considered as potential biomarkers of developmental diseases, has never been investigated. Here, we evaluated the FU origin of AF peptides and if the AF peptide content can be used as a surrogate of FU.

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Objectives: There are many causes of fetal effusions, including the rare lysosomal storage diseases (LSDs). Vacuolated lymphocytes (VLs) are found in the blood of infants with LSDs, and their presence in fetal effusion could increase the risk of underlying LSD.

Methods: Between 2006 and 2018, all fetal effusions samples from 43 fetal multidisciplinary centers were referred to a single laboratory.

Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations.

Background: In utero therapeutic approaches for lower urinary tract obstruction (LUTO) have been developed to salvage the fetal kidney function.

Objective: The aim of this work was to report the long-term survival, nephrological, and urological outcome of children treated prenatally for LUTO using operative fetal cystoscopy (FC) and vesicoamniotic shunting (VAS) or both.

Methods: A retrospective study of 48 procedures (23 FC, 25 VAS) was performed on 33 patients (between 2008 and 2018).

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

Congenital Sodium Diarrhea (CSD) due to SLC9A3 mutation is a rare cause of neonatal diarrhea explained by dysfunction of the Na+/H+ antiporter 3 in intestine. To date only 10 patients have been described. We report a male patient with typical antenatal symptoms (polyhydramnios and intestinal dilation) and neonatal diarrhea with fecal sodium and bicarbonates loss.

Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need.

Alzheimer's disease and related dementias (ADRDs) are a global crisis facing the aging population and society as a whole. With the numbers of people with ADRDs predicted to rise dramatically across the world, the scientific community can no longer neglect the need for research focusing on ADRDs among underrepresented ethnoracial diverse groups. The Alzheimer's Association International Society to Advance Alzheimer's Research and Treatment (ISTAART; alz.

Urine biochemistry to predict long-term outcomes in fetuses with posterior urethral valves.

Objective: Because the literature on the predictive value of fetal urinalysis is controversial in fetuses with lower urinary tract obstruction, we determined the best model of fetal urine biochemical markers correlated with long-term postnatal renal function based on glomerular filtration rate (GFR).

Method: This retrospective study concerned 89 fetuses with lower urinary tract obstruction and their renal function after 10 years of age. We correlated fetal urine biochemical markers (total protein, β2-microglobulin, sodium, chloride, glucose, calcium, and phosphorus) with GFR at 10 to 30 years of age in 89 patients with posterior urethral valves.

Comparison of biochemical analysis of fetal serum and fetal urine in the prediction of postnatal renal outcome in lower urinary tract obstruction.

Objectives: To compare the prognostic value of fetal serum biochemistry and fetal urine biochemistry in predicting renal outcome in lower urinary tract obstruction (LUTO).

Methods: We retrospectively studied renal outcome following a prenatal diagnosis of LUTO in cases for which both fetal blood and fetal urine were sampled. We classified the renal outcome as either "favorable," when postnatal renal function was normal, or "adverse," in the case of postnatal chronic renal failure or when renal histological lesions were present at autopsy in the case of termination of pregnancy.

Impact of a shift in nuchal translucency measurements on the detection rate of first-trimester Down syndrome screening: A population-based study.

Objective: To assess the distribution of nuchal translucency (NT) measurements following a national policy without credentialing and its impact on first-trimester Down syndrome screening (DSS) detection rate.

Method: All first-trimester DSS data recorded in France (2010-2014) were collected by the laboratories in charge via an Internet database (https://www.bionuqual.

Prevalence of Novel Mutations in Antenatal Bartter Syndrome.

Background And Objectives: Mutations in the gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome.

Design, Setting, Participants, & Measurements: The French cohort of patients with antenatal Bartter syndrome encompasses 171 families.