Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report

Autor:	Judy Chernos, Kathleen Bone, Julie Lauzon, Melissa Jean MacPherson
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	medicine.medical_specialty lcsh:Medicine Prenatal diagnosis Case Report noninvasive prenatal testing Chromosomal rearrangement Case Reports 030204 cardiovascular system & hematology 03 medical and health sciences fetal hydrops 0302 clinical medicine Fetal hydrops chromoanasynthesis medicine complex chromosomal rearrangement Fetus lcsh:R5-920 prenatal diagnosis Obstetrics business.industry lcsh:R General Medicine chromosome 21 030220 oncology & carcinogenesis business Chromosome 21 lcsh:Medicine (General)
Zdroj:	Clinical Case Reports, Vol 7, Iss 11, Pp 2165-2168 (2019) Clinical Case Reports
ISSN:	2050-0904
Popis:	We report a case of a de novo ring 21 complex chromosomal rearrangement in a fetus presenting with hydrops. Noninvasive prenatal testing (NIPT) failed to detect the imbalance. This case highlights the need to understand the various limitations and strengths of NIPT technology when counseling patients.
Databáze:	OpenAIRE
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