"Information-rich" reproductive outcomes in carriers of a structural chromosome rearrangement ascertained on the basis of recurrent pregnancy loss

We report on how evaluation and close monitoring of subsequent pregnancies in carriers of a structural chromosome rearrangement ascertained on the basis of recurrent pregnancy loss resulted in a high live birth rate.

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Authors

Michelle K. Desjardins and Mary D. Stephenson, M.D., M.Sc.

Volume 97, Issue 4, Pages 894-903

Abstract

Objective:

To determine whether evaluation and management of concomitant recurrent pregnancy loss (RPL) factors, followed by close monitoring in the first trimester, improved subsequent live birth rate, in carriers of a structural chromosome rearrangement ascertained on the basis of RPL.

Design:

Prospective tabulation and analysis of subsequent pregnancy outcomes.

Setting:

Academic medical center.

Patient(s):

Carriers of a structural chromosome rearrangement with a history of RPL, defined as two or more pregnancy losses at any gestational age.

Intervention(s):

Evaluation and treatment for concomitant factors and close monitoring in the first trimester.

Main Outcome Measure(s):

Live birth rate, defined as term, preterm, and ongoing pregnancies. Secondary outcomes include number of cycles to conception, and miscarriage chromosome results.

Result(s):

Live birth rate was 6.7% before evaluation and 63% subsequent. The proportion of women with at least one live birth increased significantly from 25%–90%. The mean number of cycles to conception was 1.7 (SD 1.3). Miscarriage chromosome results revealed that 13% were unbalanced structural chromosome rearrangements.

Conclusion(s):

This study provides further evidence that evaluation and treatment of concomitant RPL factors and close monitoring in the first trimester leads to a high subsequent live birth rate in carriers of a structural chromosome rearrangement ascertained on the basis of RPL. The number of cycles needed to conceive was less than two, indicating that infertility is not associated with carrier status. The low percentage of miscarriages or ongoing pregnancies with an unbalanced structural chromosome rearrangement suggests that there is natural selection against an unbalanced rearrangement.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)00160-4/fulltext

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Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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