When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens.

Autor: Reimers RM; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA., Mason-Suares H; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA., Little SE; Department of Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, MA, USA., Bromley B; Department of Maternal Fetal Medicine, Massachusetts General Hospital, Boston, MA, USA., Reiff ES; Department of Maternal and Fetal Medicine, Duke University School of Medicine, Durham, NC, USA., Dobson LJ; Department of Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, MA, USA., Wilkins-Haug L; Department of Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2018 Mar; Vol. 38 (4), pp. 250-257. Date of Electronic Publication: 2018 Feb 21.
DOI: 10.1002/pd.5233
Abstrakt: Objectives: This study characterizes cytogenetic abnormalities with ultrasound findings to refine counseling following negative cell-free DNA (cfDNA).
Methods: A retrospective cohort of pregnancies with chromosome abnormalities and ultrasound findings was examined to determine the residual risk following negative cfDNA. Cytogenetic data was categorized as cfDNA detectable for aneuploidies of chromosomes 13, 18, 21, X, or Y or non-cfDNA detectable for other chromosome abnormalities. Ultrasound reports were categorized as structural anomaly, nuchal translucency (NT) ≥3.0 mm, or other "soft markers". Results were compared using chi squared and Fishers exact tests.
Results: Of the 498 fetuses with cytogenetic abnormalities and ultrasound findings, 16.3% (81/498) had non-cfDNA detectable results. In the first, second, and third trimesters, 12.4% (32/259), 19.5% (42/215), and 29.2% (7/24) had non-cfDNA detectable results respectively. The first trimester non-cfDNA detectable results reduced to 7.7% (19/246) if triploidy was detectable by cfDNA testing. For isolated first trimester NT of 3.0-3.49 mm, 15.8% (6/38) had non-cfDNA detectable results, while for NT ≥3.5 mm, it was 12.3% (20/162). For cystic hygroma, 4.3% (4/94) had non-cfDNA detectable results.
Conclusions: Counseling for residual risk following cfDNA in the presence of an ultrasound finding is impacted by gestational age, ultrasound finding, and cfDNA detection of triploidy.
(© 2018 John Wiley & Sons, Ltd.)
Databáze: MEDLINE
Externí odkaz: