Identification of novel CEBPA double mutations capable of promoting familial AML via the suppression of myeloid differentiation.

CCAAT-enhancer-binding protein α (CEBPA) gene carrying two mutations (CEBPA double mutations) is known to promote familial acute myeloid leukemia (AML). However, the underlying mechanism by which CEBPA double mutations promote AML remains poorly understood. Here we report that a family with three generations suffering from familial AML carries novel double mutations of CEBPA.

Sequencing of short cfDNA fragments in NIPT improves fetal fraction with higher maternal BMI and early gestational age.

Low fetal DNA fraction (< 4%) samples obtained during noninvasive prenatal testing (NIPT) are responsible for 0.5%-3% of "no calls". Maternal characteristics such as body mass index (BMI) and gestational age (GA) are the main factors that influence fetal fraction.