Sequencing of circulating cell-free DNA during pregnancy

DW Bianchi, RWK Chiu - New England Journal of Medicine, 2018 - Mass Medical Soc
Sequencing of Circulating Cell-free DNA during Pregnancy | New England Journal of Medicine
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Discordant non‐invasive prenatal testing (NIPT)–a systematic review

TS Hartwig, L Ambye, S Sørensen… - Prenatal …, 2017 - Wiley Online Library
With a high sensitivity and specificity, non‐invasive prenatal testing (NIPT) is an
incomparable screening test for fetal aneuploidy. However, the method is rather newly …

Noninvasive prenatal testing and incidental detection of occult maternal malignancies

DW Bianchi, D Chudova, AJ Sehnert, S Bhatt, K Murray… - Jama, 2015 - jamanetwork.com
Importance Understanding the relationship between aneuploidy detection on noninvasive
prenatal testing (NIPT) and occult maternal malignancies may explain results that are …

Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226

NC Rose, AJ Kaimal, L Dugoff, ME Norton… - Obstetrics & …, 2020 - journals.lww.com
Prenatal testing for chromosomal abnormalities is designed to provide an accurate
assessment of a patient's risk of carrying a fetus with a chromosomal disorder. A wide variety …

[HTML][HTML] Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

AK Petersen, SW Cheung, JL Smith, W Bi… - American journal of …, 2017 - Elsevier
Background Since its debut in 2011, cell-free fetal DNA screening has undergone rapid
expansion with respect to both utilization and coverage. However, conclusive data regarding …

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

MD Pertile, M Halks-Miller, N Flowers… - Science translational …, 2017 - science.org
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can
potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or …

[PDF][PDF] No. 348-Joint SOGC-CCMG guideline: update on prenatal screening for fetal aneuploidy, fetal anomalies, and adverse pregnancy outcomes

F Audibert, I De Bie, JA Johnson, N Okun… - J Obstet Gynaecol …, 2017 - ccmg-ccgm.org
No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal
Anomalies, and Adverse Pregnancy Out Page 1 JOINT SOGC-CCMG CLINICAL PRACTICE …

Non-invasive prenatal testing: current perspectives and future challenges

L Carbone, F Cariati, L Sarno, A Conforti, F Bagnulo… - Genes, 2020 - mdpi.com
Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality
and neurodevelopmental impairment. During the last 70 years, many efforts have been …

A review of the mechanisms and evidence for typical and atypical twinning

HC McNamara, SC Kane, JM Craig, RV Short… - American journal of …, 2016 - Elsevier
The mechanisms responsible for twinning and disorders of twin gestations have been the
subject of considerable interest by physicians and scientists, and cases of atypical twinning …

Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples

P Benn, F Malvestiti, B Grimi, F Maggi… - … in Obstetrics & …, 2019 - Wiley Online Library
Objective Direct chromosome preparations of chorionic villus samples (CVS) and cell‐free
DNA (cfDNA) testing both involve analysis of the trophoblastic cell lineage. The aim of this …