Prenatal Identification of Confined Placental Mosaicism in Pregnant Women with Fetal Growth Restriction.

Keiko Miyagami, Nahoko Shirato, Mikiko Izumi, Tatsuko Hirose, Osamu Yasui, Shoko Hamada, Ryu Matsuoka, Nobuhiro Suzumori, Akihiko Sekizawa

Reproductive sciences (Thousand Oaks, Calif.) 2022 Mar

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We examined the influence of confined placental mosaicism (CPM) as a cause of fetal growth restriction (FGR), and whether CPM can be screened using cell-free DNA (cfDNA) analysis of the maternal plasma. We analyzed cfDNA in the maternal plasma of 40 FGR cases with an estimated fetal weight of less than - 2.0 SD using massively parallel sequencing to detect chromosomal aberrations. Fetal and placental genotyping was performed to confirm CPM cases. cfDNA analyses of maternal plasma detected suspected CPM cases with chromosomal aneuploidy or copy number variations in 5 of 40 cases (12.5%). For 4 cases in which the entire placenta consisted of cells with chromosomal abnormalities, fetal growth was severely restricted. CPM can be screened by cfDNA analysis in maternal plasma, accounting for approximately 10% of the causes of moderate or severe FGR, and the higher the proportion of abnormal karyotype cells in the placenta, the more severe the placental dysfunction and FGR. © 2021. Society for Reproductive Investigation.

Citation

Keiko Miyagami, Nahoko Shirato, Mikiko Izumi, Tatsuko Hirose, Osamu Yasui, Shoko Hamada, Ryu Matsuoka, Nobuhiro Suzumori, Akihiko Sekizawa. Prenatal Identification of Confined Placental Mosaicism in Pregnant Women with Fetal Growth Restriction. Reproductive sciences (Thousand Oaks, Calif.). 2022 Mar;29(3):896-903