False Low-Risk Single Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
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 a...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Book |
| Published: |
Thieme Medical Publishers, Inc.,
2018-01-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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. |
|---|---|
| Item Description: | 2157-6998 2157-7005 10.1055/s-0037-1621722 |