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Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage.

Jong-Mi Lee^1,2, So Young Shin³, Guk Won Kim⁴

¹Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea.

Molecular Diagnosis & Therapy

|April 1, 2021

Summary

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Genetic abnormalities are a common cause of miscarriage. Single nucleotide polymorphism array (SNP-array) demonstrated superior performance in detecting these abnormalities compared to conventional karyotyping and array comparative genomic hybridization (array-CGH).

Area of Science:

Reproductive Medicine
Genetics
Prenatal Diagnostics

Background:

Genetic abnormalities are the primary cause of miscarriage.
Accurate identification of these abnormalities is crucial for understanding reproductive failure.

Purpose of the Study:

To compare the diagnostic performance of conventional karyotyping, array comparative genomic hybridization (array-CGH), and single nucleotide polymorphism array (SNP-array) for detecting genetic abnormalities in miscarriage specimens.

Main Methods:

A prospective cohort study involving 63 miscarriage specimens.
Conventional karyotyping, array-CGH, and SNP-array were performed on all specimens.
Results from each method were compared.

Main Results:

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Genetic abnormalities were identified in 49.2% of cases.
Single autosomal trisomy was the most frequent abnormality (71.0%).
SNP-array exhibited the highest detection rate (93.5%), followed by array-CGH (77.4%) and conventional karyotyping (76.0%).

Conclusions:

SNP-array is highly effective for detecting genetic abnormalities in miscarriage, outperforming conventional karyotyping and array-CGH.
While conventional methods have roles, SNP-array offers improved accuracy, efficiency, and reduced failure rates for miscarriage analysis.