Prenatal healthcare

Miceikaitė I, Hao Q, Brasch-Andersen C, et al. Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing. The New England Journal of Medicine. Nov 23;389(21):2017-2019. doi: 10.1056/NEJMc2307918   Nonacus Product: Cell3™ Target: Nexome   Abstract No abstract available   To the Editor Fetal genetic diagnosis is pivotal in prenatal care, and recent advancements in prenatal trio-exome…

  Tse WT, Bass C, Gurney L, Kinning E. Maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome in a fetus with intra‐uterine growth restriction. Prenatal Diagnosis. 2023;43(6):724-6. Nonacus products: Germline Abstract We report a case of maternally inherited autosomal dominant PLAG-1 related Silver Russell syndrome (SRS) in a fetus with IUGR and a mother…

Haworth A, Homfray T, Drury S, Dubis R, McEntagart M, Brown KT, et al. eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings. Genetics in Medicine. 2022;24(3):S226.    Nonacus Products: Germline Abstract Skeletal dysplasias are rare disorders representing approximately 5% of all congenital anomalies. They are highly…

  Yeste D, Aguilar-Riera C, Canestrino G, Fernández-Alvarez P, Clemente M, Camats-Tarruella N. A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report. Frontiers in Endocrinology. 2022;13:884107.   Nonacus Products: Prenatal heathcare Abstract MAMLD1 (X chromosome) is one of the recognized genes related to different sex…

Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, et al. Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis. American journal of obstetrics and gynecology. 2023;228(4):409-17. Nonacus products: Prenatal Objective This study aimed to determine the incremental yield of prenatal exome sequencing…

Poljak B, Agarwal U, Alfirevic Z, Allen S, Canham N, Higgs J, et al. Prenatal exome sequencing and impact on perinatal outcome: cohort study. Ultrasound in Obstetrics & Gynecology. 2023;1(3):339-45. Nonacus products: Prenatal healthcare Abstract Primarily to determine the uptake of prenatal exome sequencing (pES) and diagnostic yield of pathogenic (causative) variants in a UK tertiary…

Horton‐Bell M, Hamilton S, Keelagher R, Allen S, De Burca A, Ioannou C, et al. Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene. Prenatal Diagnosis. 2022;42(12):1481-3. Nonacus products: Prenatal healthcare Abstract A couple were referred for prenatal genetic testing at 31 weeks’ gestation due to the presence of…

van Campen J, Silcock L, Yau S, Daniel Y, Ahn JW, Ogilvie C, et al. A novel non‐invasive prenatal sickle cell disease test for all at‐risk pregnancies. British journal of haematology. 2020;90(1):119-24. Nonacus Products: Prenatal healthcare Summary Sickle cell disease (SCD) is the most common genetic haematological disorder. The availability of non-invasive prenatal diagnosis (NIPD) is…

Clausen FB, Barrett AN, Noninvasive Fetal RHD Genotyping EQA2017 Working Group, Akkök CA, Armstrong‐Fisher S, Bergström KD, Boggione CT, Bævre MS, Choolani M, Christiansen M, Cotorruelo C. Noninvasive fetal RHD genotyping to guide targeted anti‐D prophylaxis-an external quality assessment workshop. Vox sanguinis. 2019;114(4):386-93.   Nonacus Products: Prenatal healthcare Background and Objectives Fetal RHD genotyping of cell-free fetal…

Gerrish A, Bowns B, Mashayamombe-Wolfgarten C, Young E, Court S, et al. Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies. Journal of Clinical Medicine. 2020;9(11):3517. Nonacus Products: Prenatal healthcare Abstract Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation…