Clinical application of noninvasive prenatal testing in twin pregnancies: a single-center experience

ABSTRACT

Objectives

To evaluate the clinical efficiency of noninvasive prenatal testing (NIPT) for fetal chromosomal aneuploidy screening in twin pregnancies.

Methods

A total of 1650 women with twin pregnancies were enrolled in the study, which underwent NIPT at the Southwest Hospital, Army Medical University, Chongqing, China from January 2013 to June 2022. Fetal karyotyping analysis was conducted in high-risk patients, with subsequent follow-up on pregnancy outcomes.

Results

In 1650 pregnancies, NIPT results showed ten cases of the fetal chromosome aneuploidy, of which six cases were true positive and four cases were false positive. The sensitivity, specificity, positive predictive value (PPV), and false-positive rate (FPR) of trisomy 21 were 100%, 99.79%, 57.14%, and 0.18%, respectively. Sensitivity, specificity, PPV, and FPR of trisomy 18 were 100%, 99.94%, 50%, and 0.06%, respectively. The sensitivity, specificity, PPV, and FPR of trisomy 13 were 100%, 100%, 100%, and 0%, respectively. No false negatives were detected and the negative predictive value (NPV) was 100% of the total. Eleven pregnancies failed the NIPT test with no-call due to the low fetal fraction (< 4%).

Conclusions

NIPT is a high-performing routine primary prenatal screening test in twin pregnancies, with high sensitivity and specificity in screening for fetal aneuploidy.

KEYWORDS:

• Twin pregnancy
• noninvasive prenatal testing
• cell-free DNA
• chromosome aneuploidy
• invasive prenatal diagnosis

Acknowledgments

The authors thank the pregnant women and family members who participated in this research program

Declaration of Interest

The authors declare that they have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewers disclosure

Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.

Data availability statement

The data used to support the findings of this study are available from the corresponding author,[DW], upon resonable request.

Authorship

Yanmei Luo, Dan Wang, and Lupin Jiang contributed to the conception and experiment design, data analysis, drafting, and revising manuscript. Bin Hu, Huanhuan Xu, and Liang Xu were responsible for the NIPT experiment preparation, data collection, and interpretation; Yan Pan, Wei Xiong, and Yang Long were responsible for patient recruitment, clinical treatments, sample collection, and genetic counseling. All authors read and approved the final manuscript.

Correction Statement

This article has been republished with minor changes. These changes do not impact the academic content of the article.

Additional information

Funding

This work is supported by grants from the talent pool training of Army Medical University (No: XZ-2019-505-029)