Abstract
BackgroundCell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis) of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE), EMBASE, the Cochrane library and Web of Science.ResultsNinety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7%) and mean specificity was 98.9% (95% CI = 98.1% to 99.4%). These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high.ConclusionsBased on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex.
Highlights
Cell-free fetal DNA can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions
sex determining region Y (SRY) alone was used for fetal sex determination in 49 studies, DYS14 alone in 17 studies [3,9,13,23,28,33,41,42,46,49, 57,58,65,68,76,100], both SRY and DYS14 in a further five studies [7,27,32,40,69], with 19 other studies [20,21,24, 31,43,51,62,63,72,77,82,84,87,88,91,94,97,101,102] using different markers including amelogenin (n = 6) [31,62,63,72,91,102] or a combination of markers
This review and meta-analysis of non-invasive prenatal determination of fetal sex using Cell-free fetal DNA (cffDNA) in maternal blood, incorporates 10,587 tests and demonstrates the test to be highly accurate in terms of both sensitivity and specificity
Summary
Cell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, for pregnancies at risk of an X-linked condition. Prenatal screening is offered to all pregnant women as part of routine prenatal care to determine if the fetus is at substantial risk of having a particular disorder such as Down Syndrome or sickle cell anaemia. The most common X-linked recessive diseases include haemophilia (a blood clotting disorder) and Duchenne muscular dystrophy (a progressive muscle wasting disease), numerous others can result in severe conditions. Whilst each disease is individually relatively rare, it has been estimated that in combination they occur in around 5 in 10,000 live births [1]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
