Abstract
Fetal DNA and cells present in maternal blood have previously been used for non-invasive prenatal diagnosis. However, some fetal cells can persist in maternal blood after a previous pregnancy. Fetal rhesus status and sex determination have been performed by using amplification by real-time polymerase chain reaction (PCR) of fetal DNA sequences present in maternal circulation; no false-positive results related to persistent fetal DNA from a previous pregnancy have been reported. This idea has recently been challenged. An SRY real-time PCR assay was performed on the serum of 67 pregnant women carrying a female fetus but having previously given birth to at least one boy and on the serum of 30 healthy non-pregnant women with a past male pregnancy. In all cases, serum was negative for the SRY gene. These data suggest that fetal DNA from a previous pregnancy cannot be detected in maternal serum, even by using a highly sensitive technique. Therefore, non-invasive prenatal diagnosis by fetal sex determination for women at risk of producing children with X-linked disorders, and fetal RHD genotyping is reliable and secure as previously demonstrated.
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References
Ando T, Imaizumi M, Graves PN, Unger P, Davies TF (2002) Intrathyroidal fetal microchimerism in Graves' disease. J Clin Endocrinol Metab 87:3315–3320
Artlett CM, Smith JB, Jimenez SA (1998) Identification of fetal DNA and cells in skin lesions from women with systemic sclerosis. N Engl J Med 338:1186–1191
Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA (1996) Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc Natl Acad Sci USA 93:705–708
Chiu RW, Lo YM (2002) Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis. Expert Rev Mol Diagn 2:32–40
Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y (2001) First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn 21:1070–1074
Costa JM, Benachi A, Gautier E (2002a) New strategy for prenatal diagnosis of X–linked disorders. N Engl J Med 346:1502
Costa JM, Giovangrandi Y, Ernault P, Lohmann L, Nataf V, El Halali N, Gautier E (2002b) Fetal RHD genotyping in maternal serum during the first trimester of pregnancy. Br J Haematol 119:255–260
Honda H, Miharu N, Ohashi Y, Samura O, Kinutani M, Hara T, Ohama K (2002) Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum Genet 110:75–79
Invernizzi P, Biondi ML, Battezzati PM, Perego F, Selmi C, Cecchini F, Podda M, Simoni G (2002) Presence of fetal DNA in maternal plasma decades after pregnancy. Hum Genet 110:587–591
Klintschar M, Schwaiger P, Mannweiler S, Regauer S, Kleiber M (2001) Evidence of fetal microchimerism in Hashimoto's thyroiditis. J Clin Endocrinol Metab 86:2494–2498
Lambert NC, Lo YM, Erickson TD, Tylee TS, Guthrie KA, Furst DE, Nelson JL (2002) Male microchimerism in healthy women and women with scleroderma: cells or circulating DNA? A quantitative answer. Blood 100:2845–2851
Lau TW, Leung TN, Chan LYS, Lau TK, Allen Chan KC, Tam WH, Lo YMD (2002) Fetal DNA clearance from maternal plasma is impaired in preeclampsia. Clin Chem 48:2141–2146
Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, Wainscoat JS, Johnson PJ, Chang AM, Hjelm NM (1998) Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62:768–775
Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM (1999) Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 64:218–224
Poon LL, Leung TN, Lau TK, Lo YM (2000) Prenatal detection of fetal Down's syndrome from maternal plasma. Lancet 356:1819–1820
Sekizawa A, Kondo T, Iwasaki M, Watanabe A, Jimbo M, Saito H, Okai T (2001) Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin Chem 47:1856–1858
Wijk IJ van, Hoon AC de, Jurhawan R, Tjoa ML, Griffioen S, Mulders MA, Vugt JM van, Oudejans CB (2000) Detection of apoptotic fetal cells in plasma of pregnant women. Clin Chem 46:729–731
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Benachi, A., Steffann, J., Gautier, E. et al. Fetal DNA in maternal serum: does it persist after pregnancy?. Hum Genet 113, 76–79 (2003). https://doi.org/10.1007/s00439-003-0931-7
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DOI: https://doi.org/10.1007/s00439-003-0931-7