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Prenat Diagn. 2018 Apr 23. doi: 10.1002/pd.5274. [Epub ahead of print]

Fetal sex determination in twin pregnancies using cell free fetal DNA analysis.

Author information

1
IGENOMIX S.L., Valencia, Spain.
2
Instituto Universitario IVI, Instituto de Investigación Sanitaria Hospital Clinico de Valencia INCLIVA, Valencia, Spain.
3
Department of Obstetrics and Gynecology, School of Medicine, Valencia University, Valencia, Spain.
4
Fundación Igenomix, Valencia, Spain.
5
Department of Obstetrics and Gynecology, School of Medicine, Stanford University, Stanford, CA, USA.

Abstract

OBJECTIVE(S):

We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non-invasive prenatal test.

STUDY DESIGN:

A total of 706 twin pregnancies were included in this retrospective analytical data study. Normalized chromosome values for chromosomes X and Y were used and adapted into a sex-score to predict fetal sex in each fetus, and results were compared with the clinical outcome at birth.

RESULTS:

Outcome information at birth for sex chromosomes was available for 232 twin pregnancies. From these, a total of 173 twin pregnancies with a Y chromosome identified in non-invasive pregnancy testing were used for the development of a predictive model. Global accuracy for sex classification in the testing set with 51 samples was 0.98 (95% confidence interval [0.90,0.99]), with a specificity and sensitivity of 1 (95% confidence interval [0.82,1.00]) and 0.97 (95% confidence interval [0.84,0.99]), respectively.

CONCLUSION:

While non-invasive prenatal testing is a screening method and confirmatory results must be obtained by ultrasound or genetic diagnosis, the sex-score determination presented herein offers an accurate and useful approach to characterizing fetus sex in twin pregnancies in a non-invasive manner early on in pregnancy.

PMID:
29683524
DOI:
10.1002/pd.5274

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