The journal of obstetrics and gynaecology researchHumansFemalePregnancyTrisomyIn Situ Hybridization
Partial Trisomy and Partial Monosomy 21 Undetected by NIPT and FISH: A Case Report and Literature Review.
Kota Watanabe, Hironori Takahashi, Risa Narumi, Manabu Ogoyama, Kenji Horie, Hiroyuki Fujiwara
Published: 202510.1111/jog.70168
Abstract
Non-invasive prenatal testing (NIPT) is a screening method that analyzes cell-free DNA (cfDNA) in maternal plasma to detect major aneuploidies. However, NIPT can fail to identify subtle chromosomal aberrations. We report a case in which chromosomal m…
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