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Clinical and Experimental Obstetrics & Gynecology  2017, Vol. 44 Issue (5): 806-809    DOI: 10.12891/ceog3841.2017
Case Report Previous articles |
Confined placental mosaicism of trisomy 16 detected by non-invasive prenatal testing and multiple abnormalities
Ting Wang1, †, Qin Zhang1, †, Haibo Li1, *(), Wei Wang1
1 Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China
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Abstract  
This study aimed to investigate a case of confined placental trisomy 16 mosaicism (CPM16) with abnormal amniotic fluid, placental lake, and other abnormalities. Maternal serum screening was performed to assess the risk of foetal aneuploidy, and massively parallel sequencing was used to detect cell-free fetal DNA. The abnormalities of the fetus, amniotic fluid, and placenta were detected by ultrasonic inspection. Maternal serum screening indicated a high risk for trisomy 21, and the non-invasive prenatal testing (NIPT) result was positive for trisomy 16. The pregnancy was terminated and karyotype analysis of fetal heart blood revealed a 46, XX karyotype. Copy number variation (CNV) sequencing of placental tissues indicated that CPM16 is the main cause of false-positive NIPT results and intrauterine growth retardation (IUGR) diagnoses. Combining molecular genetics technologies, such as CNV sequencing, can be complementary, and provide an effective strategy to determine the cause of such abnormalities.
Key words:  Confined placental mosaicism      Non-invasive prenatal testing      Multiple abnormalities     
Published:  10 October 2017     
*Corresponding Author(s):  HAIBO LI     E-mail:  lihaiboszh@163.com
About author:  † These authors contributed equally to this work.

Cite this article: 

Ting Wang, Qin Zhang, Haibo Li, Wei Wang. Confined placental mosaicism of trisomy 16 detected by non-invasive prenatal testing and multiple abnormalities. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(5): 806-809.

URL: 

https://ceog.imrpress.com/EN/10.12891/ceog3841.2017     OR     https://ceog.imrpress.com/EN/Y2017/V44/I5/806

[1] Y. Zhou, Z. Xia, Y. Ge, Y. Yuan, F. Jiang, Q. Guo. A discordant case in which T21 positive and 47,XXY negative non-invasive prenatal testing result was associated with a 47,XXY mosaic fetus[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(6): 963-964.
[2] E.N. Kontomanolis, M. Lambropoulou, A. Georgiadis, I. Gramatikopoulou, T.H. Deftereou, G. Galazios. The challenging trisomy 16: a case report[J]. Clinical and Experimental Obstetrics & Gynecology, 2012, 39(3): 412-413.
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