Prenatal healthcare

Maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome in a fetus with intra‐uterine growth restriction | Tse WT, et al | Prenatal Diagnosis | Jun. 2023

By Celina Whalley / March 27, 2024 / Comments Off on Maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome in a fetus with intra‐uterine growth restriction | Tse WT, et al | Prenatal Diagnosis | Jun. 2023

  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…

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Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings | Haworth A, et al | Genetics in Medicine | Mar. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings | Haworth A, et al | Genetics in Medicine | Mar. 2022

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…

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A new MAMLD1 variant in an infant with microphallus and hypospadias with hormonal pattern suggesting partial hypogonadotropic hypogonadism—case report | Yeste D, et al | Frontiers in Endocrinology | Jun. 2022

By nonacus-developer / August 25, 2023 / Comments Off on A new MAMLD1 variant in an infant with microphallus and hypospadias with hormonal pattern suggesting partial hypogonadotropic hypogonadism—case report | Yeste D, et al | Frontiers in Endocrinology | Jun. 2022

  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…

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Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis | Mone F, et al | American journal of obstetrics and gynecology | Apr. 2023

By nonacus-developer / August 25, 2023 / Comments Off on Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis | Mone F, et al | American journal of obstetrics and gynecology | Apr. 2023

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…

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Prenatal exome sequencing and impact on perinatal outcome: cohort study | Poljak B, et al | Ultrasound in Obstetrics & Gynecology | Mar. 2023

By nonacus-developer / August 25, 2023 / Comments Off on Prenatal exome sequencing and impact on perinatal outcome: cohort study | Poljak B, et al | Ultrasound in Obstetrics & Gynecology | Mar. 2023

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…

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Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene | Horton‐Bell M, et al | Prenatal Diagnosis | Nov. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene | Horton‐Bell M, et al | Prenatal Diagnosis | Nov. 2022

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…

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A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies | van Campen J, et al | British Journal of Haematology | Jul. 2020

By nonacus-developer / August 25, 2023 / Comments Off on A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies | van Campen J, et al | British Journal of Haematology | Jul. 2020

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…

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Non-invasive fetal RHD genotyping to guide targeted anti-D prophylaxis–an external quality assessment workshop | Clausen FB, et al | Vox sanguinis | May 2019

By nonacus-developer / August 25, 2023 / Comments Off on Non-invasive fetal RHD genotyping to guide targeted anti-D prophylaxis–an external quality assessment workshop | Clausen FB, et al | Vox sanguinis | May 2019

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…

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Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies | Gerrish A, et al | Journal of Clinical Medicine | Oct. 2020

By nonacus-developer / August 25, 2023 / Comments Off on Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies | Gerrish A, et al | Journal of Clinical Medicine | Oct. 2020

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…

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A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review | Dempsey E, et al | An International Journal of Obstetrics & Gynaecology | May 2021

By nonacus-developer / August 25, 2023 / Comments Off on A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review | Dempsey E, et al | An International Journal of Obstetrics & Gynaecology | May 2021

Dempsey E, Haworth A, Ive L, Dubis R, Savage H, Serra E, Kenny J, Elmslie F, Greco E, Thilaganathan B, Mansour S. A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review. BJOG: An International Journal of Obstetrics & Gynaecology. 2021 May;128(6):1012-9. Nonacus Products: Prenatal…

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