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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
[Risk factors for structural chromosomal abnormality in > or = 2 miscarriages, as an instrument for selective
M T M Franssen1, J C Korevaar, N J Leschot
1Academisch Medisch Centrum/Universiteit van Amsterdam, Postbus 22.660, II00 DD Amsterdam. m.t.m.franssen@og.umcg.nl
Nederlands Tijdschrift Voor Geneeskunde
|May 3, 2007
Summary
Identifying additional risk factors can refine the probability of chromosome abnormalities in couples experiencing recurrent miscarriages. This helps in selective chromosome analysis, improving referral policies and reducing costs.
Area of Science:
- Genetics
- Reproductive Medicine
- Clinical Genetics
Background:
- Recurrent miscarriages affect couples seeking genetic counseling.
- Identifying chromosome abnormalities is crucial for reproductive planning.
Purpose of the Study:
- To identify additional risk factors for chromosome abnormalities in couples with two or more miscarriages.
- To determine the probability of carrier status based on these factors.
Main Methods:
- Nested case-control study conducted in six clinical genetics centers in the Netherlands.
- Data collected from couples referred for karyotyping after at least two miscarriages (1992-2000).
- Analysis of factors influencing carrier status and calculation of probabilities for various factor combinations.
Main Results:
- Identified four independent factors influencing carrier status: younger maternal age at second miscarriage, history of three or more miscarriages, and family history of recurrent miscarriages.
- Calculated carrier status probability ranged from 0.5% to 10.2% in couples with two or more miscarriages.
- In 18% of couples, the risk was low (<2.2%), suggesting karyotyping might be unnecessary.
Conclusions:
- The probability of carrier status in couples with recurrent miscarriages is influenced by additional risk factors.
- Selective chromosome analysis based on these factors can optimize referral policies.
- This approach can decrease the number of chromosome analyses performed and lower healthcare costs.
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