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Published on: August 2, 2017
Reliability of fetal sex determination using maternal plasma
Peter G Scheffer1, C Ellen van der Schoot, Godelieve C M L Page-Christiaens
1From the Division of Perinatology and Gynaecology, University Medical Center Utrecht, The Netherlands; The Department of Experimental Immunohaematology, Sanquin Research Amsterdam and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, The Netherlands; The Department of Immunohaematology Diagnostics, Sanquin Diagnostic Services, Amsterdam, The Netherlands; and The Department of Human Genetics, Radboud University Nijmegen Medical Center, The Netherlands.
Objective:
To determine the diagnostic accuracy of noninvasive fetal sex determination in maternal plasma.
Methods:
All consecutive patients for whom fetal sex determination in maternal plasma was performed in our laboratory from 2003 up to 2009 were included in the study. Real-time polymerase chain reaction was performed for the SRY gene and multicopy DYS14 marker sequence. A stringent diagnostic algorithm was applied. In the case of a positive result for both Y chromosome-specific assays, a male-bearing pregnancy was reported. In the case of a negative result, the presence of fetal DNA was ascertained through the use of 24 biallelic insertion/deletion polymorphisms or paternally inherited blood group antigens. Only if the presence of fetal DNA was confirmed was a female-bearing pregnancy reported. Results were compared with the pregnancy outcomes.
Results:
A total of 201 women were tested. The median gestational age was 9 0/7 weeks (interquartile range 8 0/7 to 10 0/7 weeks). In 189 of 201 cases (94%), a test result was issued; in 10 cases, the presence of fetal DNA could not be confirmed; in two cases, an early miscarriage was observed. Pregnancy outcome was obtained in 197 cases, including 105 male-bearing and 81 female-bearing pregnancies and 11 miscarriages. Sensitivity and specificity of the test were 100% (95% confidence intervals 96.6-100% and 95.6-100%, respectively). In all 10 cases in which the presence of fetal DNA could not be confirmed, a female was born.
Conclusion:
Noninvasive fetal sex determination in maternal plasma is highly reliable and clinically applicable.
Level Of Evidence:
III.
