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

Milán, Miguel; Mateu, Emilia; Blesa, David; Clemente-Císcar, Mónica; Simón, Carlos

doi:10.1002/pd.5274

Cited by 9 publications

(11 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently, Milan and colleagues investigated the accuracy of a sex prediction model based on the normalized chromosome value (NCV) of the sex chromosomes by linear regression. 20 Without discriminating between mono- or dichorionic pregnancies, the authors reported a detection rate of 98% for fetuses sex classification with a sensitivity and specificity of 97% and 95%, respectively. Here, we show that a two-step linear regression with incorporation of fetal fraction in the model increases the performance for sex determination.…”

Section: Discussionmentioning

confidence: 98%

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

et al. 2019

View full text Add to dashboard Cite

Non-invasive prenatal testing (NIPT) is accurate for fetal sex determination in singleton pregnancies, but its accuracy is not well established in twin pregnancies. Here, we present an accurate sex prediction model to discriminate fetal sex in both dichorionic diamniotic (DCDA) and monochorionic diamniotic/monochorionic monoamniotic (MCDA/MCMA) twin pregnancies. A retrospective analysis was performed using a total of 198 twin pregnancies with documented sex. The prediction was based on a multinomial logistic regression using the normalized frequency of X and Y chromosomes, and fetal fraction estimation. A second-step regression analysis was applied when one or both twins were predicted to be male. The model determines fetal sex with 100% sensitivity and specificity when both twins are female, and with 98% sensitivity and 95% specificity when a male is present. Since sex determination can be clinically important, implementing fetal sex determination in twins will improve overall twin pregnancies management.

show abstract

Section: Discussionmentioning

confidence: 98%

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

et al. 2019

View full text Add to dashboard Cite

show abstract

“…One discordance (misclassified male‐female twins as female‐female twins) might be due to some complex biological reasons such as an unbalanced translocation between the X and Y chromosome or fetal sex chromosome mosaicism, given the fetal fraction was as high as 15.55% and no abnormal information was observed in the test. A recently published study used a sex score method, which was determined by normalized chromosome values for chromosomes X and Y for fetal sex prediction with 98% accuracy (95% CI, 90%‐99%) in twin pregnancies. Here, we also provided an assessment for sex determination in twin and triplet pregnancies; however, the sex predictive performance needs to be further tested.…”

Section: Discussionmentioning

confidence: 99%

Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies

Chen

Jiang

Guo³

et al. 2019

Prenatal Diagnosis

View full text Add to dashboard Cite

Objective To analyze the fetal fraction, fetal sex, and chromosomal aneuploidy in multiple pregnancies using noninvasive prenatal testing (NIPT). Method A total of 362 pregnant women including 203 singleton pregnancies, 69 twins, and 90 higher‐order multiple pregnancies were recruited. Fetal fractions estimated by size ratio‐based and Y chromosome‐based approaches in singleton pregnancies with male fetus were used as source data to establish the model. The model was then applied to multiple pregnancies for fetal fraction estimation. By comparing the fetal fractions estimated by size ratio to those estimated by Y chromosome or autosomal chromosomes, fetal sex and chromosomal aneuploidy can be analyzed. Results The size ratio‐based approach has been well established in estimating fetal fractions for twin and higher‐order multiple pregnancies. Fetal fraction had a positive correlation with gestational age in twin and triplet pregnancies. Fetal sex was determined with accuracies of 98.6% (95% CI, 92.19%‐99.96%) in twins and 97.6% (95% CI, 91.76%‐99.71%) in triplet pregnancies. Four trisomy 21, one trisomy 18, and one trisomy 13 cases were detected by NIPT. Two trisomy 21 singleton pregnancies and one trisomy 21 twin pregnancy were confirmed by karyotyping. Conclusion Fetal sex and chromosomal aneuploidy in multiple pregnancies can be determined using NIPT.

show abstract

“…1 a). Since FF can be estimated based on amount of Chr Y [ 6 ], we compared FF estimations by two different methodologies: the SeqFF approach [ 7 ], and another method based on Chr Y [ 6 ]. In the first blood sample, SeqFF estimated overall FF of 6.4%, whereas the Y chromosome-based method yielded 73.7%.…”

Section: Case Presentationmentioning

confidence: 99%

Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report

et al. 2021

View full text Add to dashboard Cite

Background Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce. Case A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference. As a result, cfDNA testing was only informative for autosomes. Routine 20-week ultrasound scan showed no structural alterations and the presence of female external genitalia. Post-clinical research revealed that the patient received a bone marrow transplant from a male donor several years before. Fluorescence in situ hybridization showed that 100% of nuclei analysed from the patient’s lymphocytes presented a ChrY. Conclusion This case demonstrates ChrY can be used as a marker to avoid sex discrepancies in certain patients with organ transplants.

show abstract

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

Cited by 9 publications

References 26 publications

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies

Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report

Contact Info

Product

Resources

About