Birth of a Normal Girl after in Vitro Fertilization and Preimplantation Diagnostic Testing for Cystic Fibrosis

PRENATAL diagnosis of inherited disease currently involves sampling cells of fetal origin by amniocentesis in the second trimester of pregnancy, or chorionic-villus sampling in the first trimester, followed by detection of the genetic defect by cytogenetic, biochemical, or DNA analysis. Couples at r...

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Bibliographic Details
Published inThe New England journal of medicine Vol. 327; no. 13; pp. 905 - 909
Main Authors Handyside, Alan H, Lesko, John G, Tarín, Juan J, Winston, Robert M.L, Hughes, Mark R
Format Journal Article
LanguageEnglish
Published Boston, MA Massachusetts Medical Society 24.09.1992
Subjects
Base Sequence
Biological and medical sciences
Biopsy
Chromosome Deletion
Cystic fibrosis
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis - prevention & control
Cystic Fibrosis Transmembrane Conductance Regulator
Deoxyribonucleic acid
Diagnostic tests
DNA
Embryonic Development
Embryos
Female
Fertilization in Vitro
Fetal Diseases - diagnosis
Genetics
Heterozygote
Humans
In vitro fertilization
Medical diagnosis
Medical genetics
Medical sciences
Medicine
Membrane Proteins - genetics
Molecular Sequence Data
Mutation
Parents & parenting
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis - methods
Superovulation
Womens health
Human
Fertilization
Respiratory disease
Etiopathogenesis
Exploration
Medical screening
In vitro
Genetic disease
Pregnancy
Mucoviscidosis
Lung function
Newborn
Ovum preimplantation
DNA
Risk factor
Cytogenetics
Fetus
Diagnosis
Biomedical engineering
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Summary:PRENATAL diagnosis of inherited disease currently involves sampling cells of fetal origin by amniocentesis in the second trimester of pregnancy, or chorionic-villus sampling in the first trimester, followed by detection of the genetic defect by cytogenetic, biochemical, or DNA analysis. Couples at risk of having affected children face the risks associated with these sampling procedures and the difficult decision whether to continue an affected pregnancy. Some couples repeatedly terminate pregnancies in an attempt to have a normal child. Many couples would prefer that embryos be screened before any are implanted in the uterus, so that the parents could be certain . . .
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ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199209243271301