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  1. www.ajog.org › article › S0002-9378(23)00611-7Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome ...

    This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

  2. www.uptodate.com › contents › digeorge-22q11-2DiGeorge (22q11.2 deletion) syndrome: Clinical features and ...

    Jun 20, 2024 · DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. Most cases are caused by a heterozygous chromosomal deletion at 22q11.2.

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  4. www.ncbi.nlm.nih.gov › pmc › articlesExpanding the fetal phenotype: Prenatal sonographic findings ...

    The diagnosis was confirmed prenatally in 67% (28/42) and postnatally in 33% (14/42). The potential differential diagnoses, including 22q11.2DS, were discussed during prenatal counseling in all cases. All families with a postnatal diagnosis were offered amniocentesis prenatally but declined.

    • Erica Schindewolf, Nahla Khalek, Mark P. Johnson, Juliana Gebb, Beverly Coleman, Terrence Blaine Cro...
    • 10.1002/ajmg.a.38665
    • 2018
    • 2018/08

  5. www.ncbi.nlm.nih.gov › pmc › articlesGenetic Diagnosis in the Fetus - PMC - National Center for ...

    We discuss the difference between these modalities for the genetic diagnosis of a fetus, their strengths and weaknesses, and strategies for their optimal use in order to direct perinatal care.

    • Monica H. Wojcik, Rebecca Reimers, Tabitha Poorvu, Pankaj B. Agrawal
    • 10.1038/s41372-020-0627-z
    • 2020
    • 2020/07

  6. www.ncbi.nlm.nih.gov › pmc › articlesPrenatal diagnosis: the clinical usefulness of array ...

    Jul 3, 2018 · The application of aCGH on routine chromosomal analysis has substantially increased the diagnostic yield in clinical cytogenetics and nowadays it is assumed to be the first genetic test used for postnatal diagnosis in cases of intellectual disability or neurodevelopment diseases.

    • Marta Freitas, Joel Pinto, Carla Ramalho, Sofia Dória
    • 10.1016/j.pbj.0000000000000013
    • 2018
    • Porto Biomed J. 2018 Oct; 3(2): e13.

  7. www.nejm.org › doi › fullChromosomal Microarray versus Karyotyping for Prenatal Diagnosis

    Dec 6, 2012 · We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis.

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  9. www.nature.com › articles › s41372/020/0627-zGenetic diagnosis in the fetus | Journal of Perinatology - Nature

    Feb 24, 2020 · We discuss the difference between these modalities for the genetic diagnosis of a fetus, their strengths and weaknesses, and strategies for their optimal use in order to direct perinatal care.