Reliability of 46 XX results on miscarriage specimens A review of 1222 first trimester miscarriage specimens

Maternal cell contamination often obscures accurate chromosome analysis of miscarriages, but testing can differentiate the maternal from fetal genome, thus improving detection of the true karyotype of pregnancy tissue.

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Authors

Ruth B. Lathi, M.D., Stephanie Lynn Fisher Gustin, M.D., Jennifer Keller, M.S., Melissa K. Maisenbacher, M.S., C.G.C., Styrmir Sigurjonsson, Ph.D., Rosina Tao, Zach Demko, Ph.D.

Volume 101, Issue 1, Pages 178-182, January 2014

Abstract

Objective:

To examine the rate of maternal contamination in miscarriage specimens.

Design:

Retrospective review of 1,222 miscarriage specimens submitted for chromosome testing with detection of maternal cell contamination (MCC).

Setting:

Referral centers requesting genetic testing of miscarriage specimens at a single reference laboratory.

Patient(s):

Women with pregnancy loss who desire complete chromosome analysis of the pregnancy tissue.

Intervention(s):

Analysis of miscarriage specimens using single-nucleotide polymorphism (SNP) microarray technology with bioinformatics program to detect maternal cell contamination.

Main Outcome Measure(s):

Chromosome content of miscarriages and incidence of 46,XX results due to MCC.

Result(s):

Of the 1,222 samples analyzed, 592 had numeric chromosomal abnormalities, and 630 were normal 46,XX or 46,XY (456 and 187, respectively). In 269 of the 46,XX specimens, MCC with no embryonic component was found. With the exclusion of maternal 46,XX results, the chromosomal abnormality rate increased from 48% to 62%, and the ratio for XX to XY results dropped from 2.6 to 1.0.

Conclusion(s):

Over half of the normal 46,XX results in miscarriage specimens were due to MCC. The use of SNPs in MCC testing allows for precise identification of chromosomal abnormalities in miscarriage as well as MCC, improving the accuracy of products of conception testing.

Read the full text at: http://www.fertstert.org/article/S0015-0282(13)03105-1/fulltext


Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

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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