TITLE:
Single Nucleotide Polymorphism-Based Chromosomal Microarray Evaluation of Hydatidiform Moles: A US National Reference Laboratory Experience
AUTHORS:
Arturo Anguiano, Boris T. Wang, Kylin Y. Lammers, Loretta W. Mahon, Nicole Truitt, Lindsay Dohany, Fatih Z. Boyar
KEYWORDS:
Complete Hydatidiform Mole (CHM), Gestational Trophoblastic Disease (GTD), Gestational Trophoblastic Neoplasm (GTN), Partial Hydatidiform Mole (PHM), Triploidy, Whole Genome Uniparental Disomy (wgUPD)
JOURNAL NAME:
Open Journal of Obstetrics and Gynecology,
Vol.10 No.8,
August
26,
2020
ABSTRACT: Objectives: This retrospective
study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based
chromosomal microarrays (CMAs) in the diagnosis of complete hydatidiform mole
(CHM) and partial HM (PHM) in products of conception (POC) and amniotic fluid
(AF) specimens, and 2) frequency of whole-genome uniparental disomy (wgUPD) and
triploidy in POC and AF specimens received at a US national reference
laboratory. Methods: We
reviewed consecutive 2138 POC and 3230 AF specimens and identified the cases
with wgUPD and triploidy which are associated with molar pregnancy. Results: Of
2138 consecutive POC specimens tested, SNP-based CMA detected wgUPD in 10
(0.47%) and triploidy in 84 (3.93%). Of the 10 wgUPD cases, 9 (90%) were
confirmed as CHM. Of 3230 consecutive AF specimens, the array detected wgUPD in
1 case (0.03%) and triploidy in 11 (0.34%). Conclusions: SNP-based
microarray allows detection of wgUPD in POC and AF specimens at a US national
reference laboratory. Correctly diagnosing HM and differentiating CHM from PHM are important for clinical management. The
effective SNP-based CMA detection of wgUPD in CHM may enable physicians to
monitor patients at risk for gestational trophoblastic disease and neoplasm. Conventional chromosome analysis of POC has a high failure rate, cannot be performed on
formalin-fixed paraffin embedded samples, and cannot detect wgUPD. Further multi-institutional collaborative assessmen on accuracy, cost-effectiveness, and adequate
access to SNP-based CMA, may lead this testing platform to be considered as the
first-tier analysis tool for POC specimens, including those showing PHM or CHM.