Publications by authors named "Massardier J"
Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.
Int J Neonatal Screen
November 2024
In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.
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- * Researchers aimed to determine the role of antibody-dependent cell-mediated cytotoxicity (ADCC) in avelumab's effectiveness and whether variations in the FcγR3A receptor can predict patient responses.
- * Findings confirmed the presence of FcγR3A+ natural killer (NK) cells in PD-L1-expressing GTN, and that avelumab enhances NK cell activity, further suggesting higher affinity FcγR3A variants may
Objective: To assess the frequency of fetal therapy for fetuses with congenital pulmonary malformations (CPMs) and to investigate their short-term outcomes.
Method: The study population included 435 singleton fetuses diagnosed with CPMs from a national population-based cohort study in France in 2015-2018. Information was obtained from medical records on CPM volume ratio (CVR), signs of compression, fetal therapy and perinatal outcomes.
Article Synopsis
- Fontaine progeroid syndrome (FPS) is a newly identified genetic disorder linked to mutations in the SLC25A24 gene, resulting in severe physical abnormalities such as craniosynostosis and growth restrictions.
- The first documented prenatal cases during the second trimester show different phenotypic features, including encephalocele and nephromegaly, while lacking some typical signs of FPS seen after birth.
- The study highlights the importance of genetic testing methods like exome/genome sequencing for diagnosing rare syndromes, suggesting that FPS may involve a novel inheritance pattern.
Article Synopsis
- Congenital microgastria (CM) is a rare birth defect caused by incomplete stomach development during early pregnancy, making prenatal diagnosis difficult.
- Four cases of CM were studied, where ultrasound initially indicated small or absent fetal stomach, often confused with esophageal atresia (EA), but MRI and amniotic fluid analysis helped clarify the diagnosis.
- When a fetal stomach isn't visible on ultrasound and amniotic fluid analysis rules out gastrointestinal issues, fetal MRI can be used to confirm CM by showing a small tubular stomach and dilated esophagus.
Background: Despite the French pregnancy prevention program (PPP), a considerable number of pregnancies are potentially exposed to oral isotretinoin. New measures were taken by the French Medicines Agency, including the restriction of initial isotretinoin prescriptions to dermatology specialists in May 2015 and a new information campaign on teratogenicity in January 2019.
Objectives: The aims were to: describe, between 2014 and 2021, compliance with PPP recommendations: isotretinoin use as a second-line treatment, first prescription by a dermatology specialist, monthly prescription renewal and pregnancy testing (PT); assess the effect of the 2015 and 2019 measures on PT compliance; and identify the determinants of PT noncompliance.
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.
Background: The standard treatment for gestational choriocarcinoma is chemotherapy.
Objective: To describe the risk of recurrence with expectant management of gestational choriocarcinoma that has reached a normal human chorionic gonadotropin level after tumor removal without adjuvant chemotherapy.
Methods: A retrospective multicenter international cohort study was conducted from 1981 to 2017 involving 11 gestational trophoblastic disease reference centers with patient's follow-up extended until 2023.
Impact of molecular genotyping on the diagnosis and treatment of human chorionic gonadotropin-producing tumors.
J Gynecol Obstet Hum Reprod
January 2024
Objectives: To assess the use of molecular genotyping to accurately diagnose and treat human chorionic gonadotropin (hCG)-producing tumors and to evaluate the discriminating capacity of molecular testing on prognosis and overall survival.
Methods: We conducted a retrospective descriptive study of patients registered with the French Reference Center for Trophoblastic Disease between 1999 and 2021. We included all patients with hCG-producing tumors for whom results of molecular genotyping were available.
Article Synopsis
- * This condition is diagnosed through histological examination, enzyme activity tests, and genetic studies; severe forms of GSD IV exhibit devastating outcomes, with most affected infants being stillborn or dying shortly after birth.
- * The study presents a detailed case series of 10 patients from 8 families with severe neuromuscular GSD IV, highlighting key symptoms such as fetal movement reduction, muscle atrophy, and novel genetic variants
Article Synopsis
- The study investigates outcomes and risks for women experiencing a multiple pregnancy where one fetus has a complete hydatidiform mole (a type of abnormal pregnancy) alongside a normal fetus, acknowledging the potential for serious complications and cancer transformation following birth.* -
- From a review of 11,411 pregnancies between 2001 and 2022, only 141 represented this dual-condition, with 23% opting to terminate, while a significant portion faced complications, miscarriages, or premature delivery, indicating high risks associated with such pregnancies.* -
- Notably, the study found that lower levels of a specific hormone (free beta human chorionic gonadotropin) in pregnant women correlated with better chances of reaching 24 weeks gestation and
Hydatidiform moles (HMs) are divided into two types: partial hydatidiform mole (PHM) which is most often diandric monogynic triploid and complete hydatidiform mole (CHM) which is most often diploid androgenetic. Morphological features and p57 immunostaining are routinely used to distinguish both entities. Genetic analyses are required in challenging cases to determine the parental origin of the genome and ploidy.
View Article and Find Full Text PDFMorbidity, mortality, and prognostic factors in gestational trophoblastic neoplasia with liver metastasis.
J Gynecol Obstet Hum Reprod
October 2023
Background: Liver metastases of gestational trophoblastic neoplasia (GTN) are rare, but associated with poor prognosis. The additional concomitant presence of brain or intra-abdominal metastases, with liver metastases has been described as worsening factors, but the literature on this topic is reduced.
Objective: To estimate the overall mortality, specific hepatic morbidity, and mortality, and to identify prognostic factors for patients with GTN and liver metastases.
Background: Knowledge about the risks of drugs during pregnancy is continuously evolving due to the frequent publication of a large number of epidemiological studies. Systematic reviews and meta-analyses therefore need to be regularly updated to reflect these advances. To improve dissemination of this updated information, we developed an initiative of real-time full-scale living meta-analyses relying on an open online dissemination platform ( www.
View Article and Find Full Text PDFBackground: The vast majority of prenatally diagnosed congenital pulmonary malformations (CPM) remain asymptomatic at birth. The maximal value of the CPM volume ratio (CVRmax) predicts the risk of neonatal respiratory distress (NRD), and should allow for better assessment of the level of expertise needed at the delivery site.
Aim: This study evaluated the level of maternity units currently chosen for the delivery of CPMs, and determined the impact of the choice of delivery site based on the CVRmax, with a threshold of 0.
Article Synopsis
- The TROPHIMMUN trial aimed to evaluate the effectiveness of avelumab for women suffering from gestational trophoblastic tumors (GTT) that resisted chemotherapy, specifically focusing on a group (cohort B) who had already undergone polychemotherapy.
- Avelumab was administered to 7 patients every two weeks, with an emphasis on normalizing a hormone called human chorionic gonadotropin (hCG), but only one patient showed significant improvement, leading to treatment discontinuation.
- The study ended early due to limited efficacy in cohort B, indicating a need for new, innovative immunotherapy approaches, as most patients still faced poor outcomes after polychemotherapy.
Article Synopsis
- The study aimed to assess whether using cervical dilators alongside misoprostol could shorten labor during second-trimester pregnancy terminations.
- Conducted as a randomized controlled trial, it involved 347 women, comparing outcomes such as labor duration and side effects between those receiving cervical dilators and those getting misoprostol alone.
- Results showed no significant differences in labor duration or complications between the two groups, suggesting that the addition of cervical dilators did not effectively shorten labor.
Article Synopsis
- * Researchers analyzed ultrasound data from 22 fetuses with the 6qter deletion, finding significant brain abnormalities such as cerebellar hypoplasia and ventricular enlargement, alongside other structural issues.
- * The results reveal common prenatal sonographic markers for the 6q deletion syndrome and underscore the need for chromosomal microarray analysis to detect related genetic deletions in cases with observed malformations.
Article Synopsis
- The human placenta exhibits some characteristics similar to tumors, such as rapid growth and immune evasion, but the transition from benign to malignant conditions is not well understood.
- A study using a 730-gene panel discovered 33 genes that differed between hydatidiform moles and postmolar choriocarcinoma, highlighting the dysregulation of the TGF-β pathway.
- The findings suggest that the TGF-β pathway plays a significant role in placental cancer progression, and further research could explore its potential as a biomarker and treatment target.
Introduction: Pregnant women with covid-19 are more likely to experience preterm birth. The virus seems to be associated with a wide range of placental lesions, none of them specific.
Method: We collected cases of Covid-19 maternal infection during pregnancy associated with poor pregnancy outcomes, for which we received the placenta.
Objectives: Most children with prenatally diagnosed congenital pulmonary malformations (CPMs) are asymptomatic at birth. We aimed to develop a parsimonious prognostic model for predicting the risk of neonatal respiratory distress (NRD) in preterm and term infants with CPM, based on the prenatal attributes of the malformation.
Methods: MALFPULM is a prospective population-based nationally representative cohort including 436 pregnant women.
Article Synopsis
- Chromosomal microarray analysis (CMA) is more effective than standard karyotype in detecting genetic anomalies during prenatal assessments, especially for fetuses with isolated growth restrictions.
- This study focused on understanding how many copy number variants (CNVs) CMA can identify in cases of fetal growth restriction, where no other structural anomalies are present.
- Out of 682 fetuses studied, CMA detected genetic abnormalities in 7.5% of cases, highlighting its potential value in prenatal genetic testing compared to traditional methods.
Background: The risk of malignant transformation of molar pregnancies after human chorionic gonadotropin levels return to normal is low, roughly 0.4%, but may justify an adaptation of monitoring strategies for certain patients.
Objective: This study aimed to determine the risk of gestational trophoblastic neoplasia after human chorionic gonadotropin normalization in women with molar pregnancy and identify risk factors for this type of malignant transformation to optimize follow-up protocols after human chorionic gonadotropin normalization.
Fourth degree perineal tears: Surgical repair technique in 10 steps.
J Gynecol Obstet Hum Reprod
November 2021
Obstetrical anal sphincter injury (OASIS) may lead to significant comorbidities, including anal incontinence, rectovaginal fistula, and pain. A correct repair is required to avoid improper healing, as a persistent defect in the external anal sphincter after delivery can increase the risk of complications and worsening of symptoms following subsequent vaginal deliveries. Herein is described the surgical repair technique for a fourth degree perineal tear.
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