Objectives: To explore the utility of amniotic cell karyotype analysis in combined with chromosome microarray analysis in prenatal diagnosis. Methods: Chromosome microarray analysis (CMA) and amniotic cell karyotype analysis were accepted by a pregnant woman who carried a fetus with chromosome 15 aneuploidy suggested by non-invasive prenatal test (NIPT). Later on, the woman chose abortion because ultrasound detection had diagnosed that the fetus manifested hypospadias, long bone dysplasia, and abnormal vasa umbilicalis. The placenta, aborted fetus’s tissues and organs were collected and verified by fluorescence in situ hybridization (FISH) technique to confirm the prenatal diagnosis. Results: Karyotype analysis of amniotic cell found only one 47, XY, +15 cell versus 49 normal cells. CMA of amniotic fluid sample indicated that there is a 75.9 Mb copy number gain on 15q11.2q26.3. FISH results of the placenta and fetal tissues from multiple organs showed that the proportion of trisomy 15 cells in placenta is significantly higher than which in other parts of the fetus. Conclusion: For fetuses with chromosome 15 aneuploidy indicated by NIPT, amniotic karyotype analysis in combined with chromosome microarray analysis could be a suitable solution for genetic diagnosis.
NIPT, Chromosome Microarray Analysis, Karyotype Analysis, FISH, Chimeric Trisomy 15
- Rabiega-Gmyrek D , Olejniczak T , Joanna Niepsuj-Biniaś, et al. Chromosomal aberrations – the cause of spontaneous abortions[J]. Ginekol Pol, 2015, 86(5):357-361.
- Wei P , Li Y , Chen C , et al.Detection of chromosomal aneuploidies in spontaneous abortion samples by fluorescence in situ hybridization.[J]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015, 32(2):229-32. doi: 10.3760/cma.j.issn.1003-9406.2015.02.017.
- Mackman C A , Loomba R S , Slicker J , et al. Growth Trajectory in Children with Trisomy 21 with and without Atrioventricular Septal Defect.[J].Congenit Heart Dis, 2016,11(4):348-353.doi: 10. 1111/chd. 12378.
- Cereda A , Carey J C . The trisomy 18 syndrome[J]. Orphanet J Rare Dis, 2012, 7(1):81-81. doi: 10.1186/1750-1172-7-81.
- Kaleli S , Yanikkayademirel G , Erel C T , et al. High rate of aneuploidy in luteinized granulosa cells obtained from follicular fluid in women who underwent controlled ovarian hyperstimulation.[J].Fertil Steril, 2005, 84(3):802-804.DOI:10.1016/j.fertnstert.2005.02.040.
- O'Brien K , Lazar E , Athanassiou A , et al. Ovarian hyperstimulation syndrome associated with fetal trisomy 21[J]. J Perinatol, 2009, 29(5):388-390.doi: 10.1038/jp.2008.200.
- Herbert M , Kalleas D , Cooney D , et al. Meiosis and Maternal Aging: Insights from Aneuploid Oocytes and Trisomy Births[J].Cold Spring Harb Perspect Biol, 2015, 7(4):a017970.doi: 10.1101/cshperspect.a017970.
- Chen X B , Regan J W . Activation of the human FP prostanoid receptor disrupts mitosis progression and generates aneuploidy and polyploidy[J]. Cell Mol Life Sci.,2006, 63(1):112-121. doi: 10.1007/s00018-005-5303-0
- Beal M A , Yauk C L , Marchetti F . From sperm to offspring Assessing the heritable genetic consequences of paternal smoking and potential public health impacts.[J].Mutat Res, 2017, 773:26-50. doi: 10.1016/j.mrrev.
- Bourthoumieu S , Terro F , Leveque P , et al. Aneuploidy studies in human cells exposed in vitro to GSM-900 MHz radiofrequency radiation using FISH[J].Int J Radiat Biol, 2011, 87(4) :400-408. doi: 10.3109/09553002.
- Hayata K , Hiramatsu Y , Masuyama H , et al. Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature Review.[J]. Acta Med Okayama, 2017, 71(2):181-185. doi: 10.18926/AMO/54988
- Mardy A , Wapner R J . Confined placental mosaicism and its impact on confirmation of NIPT results.[J]. Am J Med Genet C Semin Med Genet, 2016, 172(2):118-122.doi: 10.1002/ajmg.c.31505.
- W.‐J. Wu, G.‐C. Ma, M.‐H. Lee, et al. Normal prenatal ultrasound findings reflect outcome in case of trisomy 14 confined placental mosaicism developing after preimplantation genetic diagnosis[J]. Ultrasound Obstet Gynecol,2017,50(1):128-130. doi: 10.1002/uog.17338
International Journal of Sciences is Open Access Journal.
This article is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) License.
Author(s) retain the copyrights of this article, though, publication rights are with Alkhaer Publications.