In:
Prenatal Diagnosis, Wiley, Vol. 39, No. 11 ( 2019-10), p. 986-992
Abstract:
What's already known about this topic? Fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15 may be at risk of uniparental disomy responsible for an imprinting disorder. Therefore, uniparental disomy testing is currently recommended in those fetuses. The overall risk that a fetus with an inherited ROB presents a UPD has been previously estimated to be around 0.6‐0.8%. However, this risk has been calculated from a number of studies of limited size and needs to be reevaluated. What does this study add? Our large multicentric study showed that the risk of UPD in a fetus carrying an inherited ROB is around 0.06% which is significantly lower than the previous estimation. In conclusion, we do not recommend prenatal testing for UPD for these pregnancies and parents should be reassured.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
1491217-X
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