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

Article Obstetrics & Gynecology

Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13

Nobuhiro Suzumori et al.

Summary: This study retrospectively analysed maternal characteristics and neonatal outcomes associated with cfDNA results, revealing details of false-positive and false-negative results in NIPT. The findings suggest that the incidence of false-positive or false-negative results is relatively low, such errors can often be explained, and vanishing twin and CPM may be potential causes of NIPT failure. Genetc counselling is important for clients prior to undergoing NIPT.

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY (2021)

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Review Obstetrics & Gynecology

Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature

Geerke M. Eggenhuizen et al.

Summary: The review evaluated the association between confined placental mosaicism (CPM) and prenatal growth and adverse pregnancy outcomes. Evidence showed that CPM was significantly associated with low birth weight, fetal growth restriction (FGR), and a high rate of preterm birth and structural fetal anomalies. Higher levels of mosaicism in chorionic villus sampling and the presence of uniparental disomy were also linked to adverse pregnancy outcomes. Monitoring fetal growth, examining for anomalies, and raising awareness of potential premature birth are advised for clinicians when CPM is detected.

HUMAN REPRODUCTION UPDATE (2021)

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Article Genetics & Heredity

Genome-wide cell-free DNA screening: a focus on copy-number variants

Jill Rafalko et al.

Summary: This study found that genome-wide cfDNA screening can detect chromosomal abnormalities beyond traditional screening, with an overall PPV of >70% for cases with subchromosomal CNVs. Isolated CNVs had a lower PPV of 61.0% compared to complex CNVs at 93.9%. Detected abnormalities included isolated deletions/duplications and unbalanced structural rearrangements.

GENETICS IN MEDICINE (2021)

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Article Genetics & Heredity