January 30, 2024

Integrating technologies: Ultrasound and cfDNA screening in twin pregnancies

Despite overall limited data on cell-free DNA (cfDNA) testing in twin gestations, MaterniT 21 PLUS has demonstrated high sensitivity and specificity in screening for trisomy 21 in twins from the first trimester of pregnancy (comparable to that observed in singleton pregnancies), as well as promising performance in screening for trisomies 13 and 18, according to the results of a newly published study.1 Hear from our experts about the nuances of twin pregnancy care as we combine ultrasound expertise with the latest research review on fetal cfDNA screening.
Poster
Katherine Curd, MS, M.Ed., LCGC; Erica Soster, MS, LCGC; Brittany Dyr, MS, LCGC; Samantha Caldwell, MS, LCGC;
Sophie Crowdes, MS, LCGC; Juan-Sebastian Saldivar, MD, FACMG; Labcorp Genetics and Women’s Health, Labcorp, San Diego, CA
October 25, 2023

A novel report of multigenerational chromosome 16 centric fission

Centric fission occurs when a centromere separates, resulting in two new stable chromosomes. Examples of centric fission have been detailed in the literature across many species; however, cases reported in humans are limited. Here we document a multigenerational inheritance of 16p and 16q telocentric chromosomes derived from a centric fission

Poster
Sidney VanDyke-Ries, MS, LCGC; Ellen Parker, MS, LCGC; Stephanie Kramer, MS, CGC; Judith Knops, PhD, FACMG; Armine Mendivil, BS; Labcorp Genetics and Women’s Health, Labcorp, Santa Fe, NM; University of Kansas Health System, Kansas City, KS