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Background: Congenital CMV infection is the most common congenital infection worldwide and a major cause of neurological impairment and sensorineural hearing loss. Fetal CMV infection is confirmed by a positive PCR test in the amniotic fluid (amniocentesis performed after 18-20 weeks of gestation and at least 8 weeks after maternal infection). However, despite a negative antenatal CMV PCR result, some newborns can be tested positive at birth. Although not widely documented, the prognosis for these babies appears to be good., Objectives: The aim of this study is to evaluate the long-term prognosis of fetuses with a false-negative AFS for cCMV, with a minimum follow-up period of 6 years., Study Design: This is a retrospective cohort study of false-negative amniocentesis reported at the CUB-Hôpital Erasme and Hôpital CHIREC in Brussels between 1985 and 2017., Results: Of the 712 negative CMV PCR amniocenteses, 24 had a CMV PCR positive at birth. The false negative rate was 8.6 %. Of the 24 cases, 9 primary maternal infections occurred in the first trimester, 14 in the second trimester and 1 in the third trimester. Among the 24 children, 2 had symptoms at birth (hyperbilirubinemia and left paraventricular cysts), but all had normal follow-up (minimum 4 years, mean 16,6 years)., Discussion: Only 2 cases could be explained by early amniocentesis. Among the others, the false-negative results could be attributed to a low viral load, a delayed infection or, less likely, to a sample degradation., Conclusion: Despite the false-negative results, all 24 children had a normal long-term follow-up., Competing Interests: Declaration of competing interest I, Dr Caroline De Coninck, certify that I don't have any conflict of interest, (Copyright © 2024 Elsevier B.V. All rights reserved.)

Hemolytic Disease of the Fetus and Newborn (HDFN) is a condition that affects 1 to 2 out of 1000 patients during pregnancy (1). When an alloantibody is present, it is essential to identify its nature in order to organize appropriate follow-up. Kell-mediated HDFN is rare; it occurs in about 5% of Kell alloimmunized pregnant women. It is important to note that in case of anti-Kell immunization, the severity of HDFN is not correlated with maternal antibody titers, and anemia tends to occur earlier and more severely. Therefore, early diagnosing and management of this condition is crucial. In the management of severe fetal anemia due to Kell immunization, available treatments include in utero transfusion (IUT), immunoglobulin therapy. Other alternative treatments exist, such as plasmapheresis. Intravenous immunoglobulin (IVIG), a noninvasive therapeutic approach, acts through multiple mechanisms. IVIG has been evaluated in cases of RhD immunization with high maternal antibody titers and a history of pregnancies involving early hydrops or intrauterine death. Regarding the potential benefits of intravenous IgG therapy, it may delay the need for early IUT, reduce the overall reliance on IUT, and have a positive impact on obstetric outcomes. This case of IV IgG therapy of anti-Kell immunization offers a thought-provoking avenue for future exploration., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest in relation to this work., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Human astrovirus (HAstV) is a nonenveloped RNA virus and has been implicated in acute gastroenteritis among children and elderly. However, there exists a substantial dearth of information on HAstV strains circulating in Nigeria. Viral-like particles were purified from archived 254 stool samples of children with acute flaccid paralysis between January and December 2020 from five states in Nigeria, using the NetoVIR protocol. Extracted viral RNA and DNA were subjected to a reverse transcription step and subsequent random polymerase chain reaction amplification. Library preparation and Illumina sequencing were performed. Using the virome paired-end reads pipeline, raw reads were processed into genomic contigs. Phylogenetic and pairwise identity analysis of the recovered HAstV genomes was performed. Six near-complete genome sequences of HAstV were identified and classified as HAstV4 (n = 1), HAstV5 (n = 1), HAstV8 (n = 1), and MLB-3 (n = 3). The HAstV5 belonged to a yet unclassified sublineage, which we tentatively named HAstV-5d. Phylogenetic analysis of open reading frames 1a, 1b, and 2 suggested recombination events inside the MAstV1 species. Furthermore, phylogenetic analysis implied a geographic linkage between the HAstV5 strain from this study with two strains from Cameroon across all the genomic regions. We report for the first time the circulation of HAstV genotypes 4, 8, and MLB-3 in Nigeria and present data suggestive for the existence of a new sublineage of HAstV5. To further understand the burden, diversity, and evolution of HAstV, increased research interest as well as robust HAstV surveillance in Nigeria is essential., (© 2024 Wiley Periodicals LLC.)

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy., Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy., Results: fCES identified the underlying genetic cause in 13% (24/183) of prospective and 29% (35/120) of retrospective cases. In both cohorts, recessive heterozygous compound genotypes were not rare, and trio and simplex variant analysis strategies were complementary to achieve the highest possible diagnostic rate. Limited prenatal phenotypic information led to interpretation challenges. In 2 prospective cases, in-depth analysis allowed expansion of the spectrum of prenatal presentations for genetic syndromes associated with the SLC17A5 and CHAMP1 genes., Conclusion: fCES is diagnostically efficient in fetuses presenting with cerebral, skeletal, urinary, or multiple anomalies. The comparison between the 2 cohorts highlights the importance of providing detailed phenotypic information for better interpretation and prenatal reporting of genetic variants., Competing Interests: Conflict of Interest The authors declare no conflict of interest., (Copyright © 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Background: The BODY-Q is a new patient-reported outcome (PRO) instrument designed to measure patient perceptions of weight loss and/or body contouring procedure. A report regarding the translation procedure into French and its preliminary results has been previously published. We here describe the finalization of the translation process and cultural validation., Materials and Methods: The translation process followed guidelines established by the International Society for Pharmacoeconomics and Outcome Research (ISPOR) and the World Health Organisation (WHO). The process included two forward translations, one backward translation, a review by a panel of expert and cognitive debriefing interviews with patients., Results: The 26 scales of the BODY-Q were translated and adapted into French. Each step of the process allowed to make changes leading to a conceptually and culturally equivalent French version. Backward translation comparison to the English version led to the identification of 16 differences necessitating re-translation. Overall feedback from patients over the final version was excellent., Conclusions: The BODY-Q proved to be a reliable and suited PRO for bariatric and body contouring patients. The thorough method of translation and cultural adaptation allowed us to achieve a conceptually and culturally valid French translation of the BODY-Q.

Background: Bariatric surgery or reconstructive body contouring surgery performed after weight loss, has the potential to have a major impact one's body image, health-related quality of life (HRQOL) and mental wellbeing. Many researches show interest in measuring this impact using generic instruments that unfortunately are not specifically oriented toward bariatric or surgery patients. The BODY-Q is a new patient-reported outcome (PRO) instrument designed to measure patient perceptions of weight loss and/or body contouring. In this article, we describe the methods used to translate and culturally adapt the French version of the BODY-Q., Material and Method: We followed the recommendation for translation process established by the International Society for Pharmacoeconomics and Outcome Research (ISPOR) and the World Health Organisation (WHO). This process included two forward translations, one backward translation, a review by a panel of expert and cognitive debriefing interviews with patient. Our aim was to ensure a conceptual and culturally valid translation., Results: This translation process led to a conceptually and culturally equivalent French version of the Body-Q. Backward translation comparison to the English original version led to the identification of 16 differences necessitating re-translation. The expert panel offered support to identify inadequate expressions and proposed changes to the translations. The cognitive debriefing interviews with 15 patients contributed to minor changes in the translation., Conclusions: This thorough method of translation and cultural adaptation allowed us to develop a conceptually and culturally valid French translation of the BODY-Q.

Background: The staging of axillary lymph nodes is critical to the management and prognosis of breast cancer, the most frequent cancer in females. Neoadjuvant therapy and lymph node dissection are recommended when malignant cells invade the lymph nodes. Therefore the pre-operative examination of these lymph nodes is crucial to treatment., Methods: In this study, we examined the effectiveness of cytology through ultrasound-guided fine needle aspiration (USG-FNA) and ultrasound (US) imaging using an established classification system in correctly identifying lymph node status compared to the final histological results after surgery., Results: Cytology by USG-FNA and US classification were found to be promising methods of axillary lymph node staging., Conclusions: US and CB offer minimally invasive techniques to pre-operatively examine these lymph nodes in patients with primary breast cancer.