Posted: Aug 10, 2023
Early Pregnancy Loss
K Walter, JAMA, April 2023
Early pregnancy loss is caused most commonly by fetal chromosomal abnormalities, which account for more than two-thirds of all early pregnancy loss between 6 and 10 weeks of gestation. Risk factors for early pregnancy loss include older age at onset of pregnancy, prior pregnancy loss, some medical conditions (such as diabetes, hyperthyroidism, and lupus), and exposures during pregnancy that may harm a developing fetus (such as alcohol; some viral or bacterial infections; environmental exposure to lead, mercury, or radiation; and certain medications).
Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study
TS Hartwig et al, The Lancet, February 2, 2023
The cffDNA-based test had a sensitivity for aneuploidy detection of 85% (95% CI 79–90) and a specificity of 93% (95% CI 88–96) compared with direct sequencing of the pregnancy tissue. Among 1000 cffDNA-based test results, 446 (45%) were euploid, 405 (41%) aneuploid, 37 (4%) had multiple aneuploidies, and 112 (11%) were inconclusive. This validation of cffDNA-based testing in pregnancy loss shows the potential and feasibility of the method to distinguish euploid and aneuploid pregnancy loss for improved clinical management and benefit of future reproductive medicine and women's health research.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne Alicia B et al. Nature medicine 2023 1
Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200?families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105?families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies.