Related Experiment Video
Updated: Jun 12, 2026
12:32
Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
Is karyotyping couples experiencing recurrent miscarriage worth the cost?
J C K Barber1, A E Cockwell, E Grant
1Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK. john.barber@soton.ac.uk
Summary
Routine karyotyping for recurrent miscarriages identifies balanced rearrangements in parents. However, the low detection rate of unbalanced rearrangements suggests current policies may not be cost-effective for preventing affected births.
Area of Science:
- Reproductive genetics
- Clinical cytogenetics
- Obstetrics and Gynecology
Background:
- Recurrent miscarriages can be linked to balanced chromosomal rearrangements in parents.
- Prenatal cytogenetic analysis is offered to carriers to prevent unbalanced rearrangements in offspring.
Purpose of the Study:
- To evaluate the cost-effectiveness of routine karyotyping for couples with recurrent miscarriages.
- To assess the yield of detecting unbalanced rearrangements through prenatal diagnosis following parental karyotyping.
Main Methods:
- Retrospective analysis of data from four UK centers over 5-30 years.
- Inclusion of data from 20,432 parents experiencing recurrent miscarriages.
- Review of prenatal diagnoses following identification of parental balanced translocations.
Main Results:
- Balanced rearrangements were found in 1.9% (406/20,432) of parents.
- Only four unbalanced rearrangements were detected via prenatal diagnosis in this cohort.
- Estimated cost of current policies is £3-4 million.
Conclusions:
- The routine karyotyping of couples with recurrent miscarriages yields a low rate of detecting unbalanced rearrangements.
- Current policies on routine karyotyping may not be cost-effective.
- Further evaluation of diagnostic strategies for recurrent miscarriages is warranted.
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