CC-BY-NC-ND 4.0 · AJP Rep 2018; 08(01): e4-e6
DOI: 10.1055/s-0037-1621722
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY

Manesha Putra
1  Department of Obstetrics and Gynecology, Detroit Medical Center, Wayne State University, Detroit, Michigan
Melissa A. Hicks
2  Detroit Medical Center University Laboratories, Detroit Medical Center, Detroit, Michigan
Jacques S. Abramowicz
3  Department of Obstetrics and Gynecology, University of Chicago, Chicago, Illinois
› Author Affiliations
Further Information

Publication History

11 March 2017

09 December 2017

Publication Date:
19 January 2018 (online)


Introduction Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 336/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 136/7 weeks. Anatomy survey showed bilateral clubfeet, clinodactyly of the left fifth digit, micropenis, and echogenic bowel. Cytogenetics analysis revealed pentasomy 49,XXXXY syndrome. We report third-trimester sonographic features of a fetus with pentasomy 49,XXXXY and the importance of thorough pre- and posttest counseling for NIPS.