Chromosomal analysis not cost-effective in evaluation of recurrent miscarriage

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1. The probability of viable offspring with a chromosomal abnormality in couples experiencing recurrent miscarriage was low. 

2. Among couples with recurrent miscarriage, amniocentesis in all pregnancies was more cost effective than parental chromosomal analysis followed by selective amniocentesis for carriers. 

Evidence Rating Level: 2 (Good) 

Study Rundown: This model-based economic analysis found that for couples experiencing recurrent miscarriage who aim to prevent birth of handicapped offspring, the strategy of parental chromosomal analysis followed by amniocentesis only in the case of carrier status was significantly more costly than performing amniocentesis in all pregnancies. Current guidelines recommend evaluation for recurrent spontaneous abortion after more than two consecutive miscarriages through uterine evaluation, karyotyping, rheumatology and immunology work-ups, coagulation tests and thyroid function tests. The findings of this study suggest that chromosomal analysis is unlikely to be cost-effective for most patients. The exception to this was young women (<23 years old) who had ≥3 miscarriages and a family history of recurrent miscarriage; in these women, the chromosomal analysis followed by amniocentesis strategy was less expensive.

The model used in this analysis does not account for variations in patient attitudes towards having a child with a chromosome abnormality or relative regret of different outcomes, including therapeutic abortions. Strengths of this study include the use of published costs and sensitivity analyses. Future studies might explore patient attitudes and uptake of amniocentesis where indicated.

Click to read the study in Human Reproduction 

Relevant Reading: UpToDate: Evaluation of couples with recurrent pregnancy loss

Study Author, Dr. Marsha van Leeuwen, M.D. talks to 2 Minute Medicine: University of Amsterdam, Academic Medical Centre, Department of Obstetrics and Gynaecology

“The key findings of this study are that for virtually all couples with recurrent miscarriage, amniocentesis in all ongoing pregnancies without the knowledge of parental carrier status is less expensive in preventing the birth of a handicapped child than parental chromosome analysis followed by amniocentesis in case of carrier status of one of the parents.

Our analysis is not a plea for amniocentesis in all women with recurrent miscarriage. Individual risk assessment is probably more effective at lower cost. Future guidelines might be more restrictive on parental karyotyping from the perspective of the limited health-care resources that we have available.”

In-Depth [model-based economic analysis]: This study compared the costs of two strategies to prevent chromosomally abnormal offspring, otherwise referred to as a handicapped child and defined as trisomy 21 and unbalanced structural chromosome abnormality, among couples experiencing recurrent miscarriage. The first approach studied was parental chromosome analysis followed by amniocentesis in the event of carrier status, and the second was amniocentesis in all pregnancies. A third strategy of no testing was used as the reference. Authors developed a model using calculated and published costs and probabilities of carrier status and unfavorable outcomes.

To prevent the birth of one handicapped child, costs ranged from €226,000 to €6,556,000 with chromosome analysis and selective amniocentesis and from €2,000 to €235,000 with routine amniocentesis. The probability of viable offspring (who would not be miscarried) with a chromosome abnormality ranged from 0.0035% to 0.0714% and was highest among women who were <23 years old at the time of second miscarriage, had ≥3 miscarriages and a family history of recurrent miscarriage. The chromosomal analysis strategy was only more cost effective in this young, high-risk female subgroup with a higher likelihood of unfavorable birth outcomes.

By Denise Pong and Leah Hawkins

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