TY - JOUR
T1 - Reliability of Fetal Sex Determination Using Maternal Plasma
AU - Scheffer, Peter G.
AU - van der Schoot, C. Ellen
AU - Page-Christiaens, Godelieve C. M. L.
AU - Bossers, Bernadette
AU - van Erp, Femke
AU - de Haas, Masja
PY - 2010
Y1 - 2010
N2 - 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 chromosomespecific 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
AB - 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 chromosomespecific 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
U2 - https://doi.org/10.1097/AOG.0b013e3181c3c938
DO - https://doi.org/10.1097/AOG.0b013e3181c3c938
M3 - Article
C2 - 20027043
SN - 0029-7844
VL - 115
SP - 117
EP - 126
JO - Obstetrics and Gynecology
JF - Obstetrics and Gynecology
IS - 1
ER -