Preimplantation Genetic Diagnosis for Mendelian Conditions

Carrier screening for selected recessive mendelian conditions has long been recommended as part of preconception care. Now in wider use, panethnic and expanded carrier screening panels will likely identify more prospective parents who are carriers. Preimplantation genetic diagnosis (PGD) is a powerf...

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Bibliographic Details
Published inJAMA : the journal of the American Medical Association Vol. 318; no. 9; pp. 859 - 860
Main Authors Dolan, Siobhan M, Goldwaser, Tamar H, Jindal, Sangita K
Format Journal Article
LanguageEnglish
Published United States American Medical Association 05.09.2017
Subjects
Adult
Cystic fibrosis
Diagnosis
DNA - isolation & purification
Embryo Transfer
Embryo, Mammalian
Embryos
Female
Genes, Recessive
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - genetics
Genetic screening
Genetic testing
Genetic Testing - methods
Humans
Male
Medical diagnosis
Mutation
Parents
Polymerase Chain Reaction
Pregnancy
Preimplantation Diagnosis - methods
Reproductive health
Screening
Sequence Analysis, DNA
Sperm Injections, Intracytoplasmic
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Summary:Carrier screening for selected recessive mendelian conditions has long been recommended as part of preconception care. Now in wider use, panethnic and expanded carrier screening panels will likely identify more prospective parents who are carriers. Preimplantation genetic diagnosis (PGD) is a powerful genetic test of embryos available to persons at risk for having a child with a genetic condition (eg, cystic fibrosis), which can help establish an unaffected pregnancy. Here, Dolan et al detail the advantages of PGD.
Bibliography:ObjectType-Article-1
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ISSN:0098-7484
1538-3598
DOI:10.1001/jama.2017.10892