Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss

Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss

The study assesses the accuracy of cell-free DNA (cfDNA) analysis in detecting whole chromosomal aneuploidies from maternal plasma of patients with early, missed miscarriage.

Inclusion Criteria:

• 5-20 weeks of gestation by ultrasound
• Miscarriage diagnosed by ultrasound
• Pregnancy tissue still present in utero, including an empty sac, and not completely expelled

Exclusion Criteria:

• Maternal age < 18 years
• No visible pregnancy tissue on ultrasound
• Multiple fetal gestation (> than singleton)
• Pregnancy was conceived using in vitro fertilization (IVF) with preimplantation genetic testing for aneuploidy (PGT-A) performed on the transferred embryo
• No microarray testing is planned on the product of conception
• Previous normal non-invasive prenatal testing (NIPT) or diagnostic testing (chorionic villous sampling or amniocentesis) in the current pregnancy
• Patient unable to provide consent