Prenatal Identification of Confined Placental Mosaicism in Pregnant Women with Fetal Growth Restriction.
Keiko MiyagamiNahoko ShiratoMikiko IzumiTatsuko HiroseOsamu YasuiShoko HamadaRyu MatsuokaNobuhiro SuzumoriAkihiko SekizawaPublished in: Reproductive sciences (Thousand Oaks, Calif.) (2021)
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.
Keyphrases
- copy number
- mitochondrial dna
- birth weight
- induced apoptosis
- genome wide
- pregnancy outcomes
- pregnant women
- cell cycle arrest
- body mass index
- dna methylation
- oxidative stress
- gene expression
- physical activity
- weight gain
- high throughput
- pulmonary embolism
- cell proliferation
- high intensity
- gestational age
- preterm birth
- pi k akt