Cell-free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21

Clinical Case Reports
Kristy CrooksKathleen Kaiser-Rogers

Abstract

NIPT (noninvasive prenatal testing) detected trisomy for two chromosomes. One trisomy reflected the fetal karyotype, and the other resulted from CPM (confined placental mosaicism). This case illustrates that extensive cytogenetic analysis can be required to identify CPM, and that patients should be counseled regarding the possibility of discordant NIPT results.

References

Aug 11, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D A NybergM A Williams
Dec 20, 2005·Human Reproduction·Dan Diego-AlvarezIsabel Lorda-Sanchez
Mar 16, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·April L HallGail H Vance
Nov 5, 2013·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·Y GaoW Wang
Feb 28, 2014·The New England Journal of Medicine·Diana W BianchiUNKNOWN CARE Study Group

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Citations

Apr 7, 2017·Prenatal Diagnosis·Tanja Schlaikjaer HartwigFinn Stener Jørgensen

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Methods Mentioned

BETA
biopsies
biopsy

Software Mentioned

Verifi
Verinata

Related Concepts

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