Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature

Figures & data

Figure 1 Results of 24- chromosome microarray on 26,107 miscarriage tissues.

Note: Reproduced from: Maisenbacher MK, Merrion K, Kutteh WH. Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. Fertil Steril. 2019;112(4):700–706.¹² Copyright ©2019 The Authors. Published by Elsevier Inc. on behalf of the American Society for Reproductive Medicine. CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode).

Table 1 Rates of Abnormal Results

Type of Abnormality	Number of Cases	Percentage of Abnormal Cases (%)
Single aneuploidy	22,493	75.0
Multiple aneuploidy	1702	5.7
Triploidy	3981	13.3
Deletions/Duplications	1378	4.6
Full Paternal UPD	188	0.6
Other*	227	0.8
TOTAL	29,984	100

Notes: Reprinted from: Maisenbacher MK, Merrion K, Levy B, Kutteh WH. Single nucleotide polymorphism (SNP) array analysis of 63,277 products of conception (POC) samples: a 10-year laboratory experience. Fertility and Sterility. 2020;114(3):e47.⁴⁹ Copyright © 2020 Published by Elsevier Inc, with permission of Elsevier. *Includes single UPD, tetraploidy, mosaicism and complex findings.

Table 2 Summary Pros and Cons of the Different Genetic Tests for Aneuploidy Currently Recommended in RPL

	Advantages	Disadvantages
Parental Karyotype	- Identifies balanced translocation carriers (2–5% of RPL couples)	- Questionable cost-effectiveness - Questionable effect on prognosis (PGT-SR vs Expectant management)
POC Karyotype	- Can identify POC aneuploidy to direct management - Cost-effective - Can bring improved psychological closure for couples	- Labor-intensive - Requires culture of live cells - High rate of culture failure - High rate of maternal cell contamination (Up to 50% of 46XX) - Questionable effect on prognosis - Requires culture of living cells
POC CMA	- Can identify POC aneuploidy to direct management - No culture failure - Does not require living cells - Low identified rate of maternal cell contamination - Can bring improved psychological closure for couples - Can obtain results as early as 6 weeks gestational age - Can be used on paraffin tissues	- Cost-effectiveness depends on setting - Questionable effect on prognosis - Cannot detect balanced translocation
PGT	-Therapeutic potential (in specific situations such as recurrent fetal aneuploidy)	- Questionable cost-effectiveness (depends on age as well as patient and payer perspectives) - Questionable effect on prognosis - Labor-intensive

Abbreviations: POC, products of conception; CMA, chromosomal microarray; PGT, pre-implantation testing; ESHRE, European society of human reproduction and embryology; ASRM, American society of reproductive medicine; RPL, recurrent pregnancy loss.

Maisenbacher MK, Merrion K, Kutteh WH. Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. Fertil Steril. 2019;112(4):700–706. doi:10.1016/j.fertnstert.2019.06.015

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Mainsenbacher MK, Merrion K, Levy B, Kutteh WH Single nucleotide polymorphism (SNP) array analysis of 63,277 products of conception (POC) samples: a 10-year laboratory experience. Fertility and Sterility. 2020;114(3):e47.

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