Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectuall...

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Veröffentlicht in:Prenatal diagnosis 1994-06, Vol.14 (6), p.469-474
Hauptverfasser: Strain, Lisa, Porteous, Mary E. M., Gosden, Christine M., Ellis, Patricia M., Neilson, James P., Bonthron, David T.
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container_end_page 474
container_issue 6
container_start_page 469
container_title Prenatal diagnosis
container_volume 14
creator Strain, Lisa
Porteous, Mary E. M.
Gosden, Christine M.
Ellis, Patricia M.
Neilson, James P.
Bonthron, David T.
description Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.
doi_str_mv 10.1002/pd.1970140610
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source MEDLINE; Wiley Online Library Journals Frontfile Complete
subjects Adult
Biological and medical sciences
Birth control
Blotting, Southern
carriers
chorion villus
Chorionic Villi Sampling
DNA - analysis
Female
Fetal Blood - chemistry
fetal blood sampling
Fragile X
fragile X syndrome
Fragile X Syndrome - diagnosis
Fragile X Syndrome - genetics
Gynecology. Andrology. Obstetrics
Humans
Male
man
Medical sciences
mutation
PCR
Pedigree
Polymerase Chain Reaction
Pregnancy
premutation
Prenatal Diagnosis
sampling
Southern blotting
Sterility. Assisted procreation
unstable DNA
title Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation
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