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Case Report
Aihua Yin
Guangdong Women and Children Hospital
Corresponding Author
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Trisomy 16 s often associated with a high risk of abnormal outcome. A retrospective analysis of 14 cases with T16 high risk in NIPT, and all had undergone prenatal diagnosis, including karyotype and CMA. NIPT had detected 11 of T16, 2 of T16 mosaisism, and 1of more Chr. 16. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. In the 5 true positive cases, 3 out of 5 cases had ultrasound abnormality. In the 9 false positive cases, all the pregnancies continued. All the pregnancies were born with low weight (<2.5kg) except case 7. There were two pregnancies with premature, which suggested that CPM 16 pregnancies may be at higher risk for preterm delivery. NIPT could serve as a fast and early prenatal screening to provide guidance for pregnancy and termination of pregnancy is medically safer when it is performed in the earlier pregnancy.
Keywords
born with low weight, CMA, mosaic trisomy 16 (MT16), Non-invasive prenatal testing (NIPT), prenatal diagnosis
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CURRENT STATUS: Under Revision
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Posted 20 Apr, 2021
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On 15 Apr, 2021
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Molecular Genetics
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This preprint is under consideration at Molecular Cytogenetics. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Case Report
Aihua Yin
Guangdong Women and Children Hospital
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Revision
Version 1
Posted 20 Apr, 2021
No community comments so far
Editor assigned
On 15 Apr, 2021
Editorial decision: Revise before peer review
On 15 Apr, 2021
Submission checks complete
On 15 Apr, 2021
Editor invited
On 15 Apr, 2021
First submitted
On 06 Apr, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Molecular Genetics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Trisomy 16 s often associated with a high risk of abnormal outcome. A retrospective analysis of 14 cases with T16 high risk in NIPT, and all had undergone prenatal diagnosis, including karyotype and CMA. NIPT had detected 11 of T16, 2 of T16 mosaisism, and 1of more Chr. 16. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. In the 5 true positive cases, 3 out of 5 cases had ultrasound abnormality. In the 9 false positive cases, all the pregnancies continued. All the pregnancies were born with low weight (<2.5kg) except case 7. There were two pregnancies with premature, which suggested that CPM 16 pregnancies may be at higher risk for preterm delivery. NIPT could serve as a fast and early prenatal screening to provide guidance for pregnancy and termination of pregnancy is medically safer when it is performed in the earlier pregnancy.
Figure 1
This is a list of supplementary files associated with this preprint. Click to download.
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