Seminars in Fetal & Neonatal Medicine
Volume 13, Issue 2 , Pages 69-75 , April 2008

Non-invasive fetal sex determination: Impact on clinical practice

  • Kirstin M. Finning

      Affiliations

    • International Blood Group Reference Laboratory, Southmead Road, Bristol, UK
  • ,
  • Lyn S. Chitty

      Affiliations

    • Clinical Molecular Genetics Unit, Institute of Child Health, 30 Guildford Street, London WC1N 6EH, UK
    • Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK
    • Corresponding Author InformationCorresponding author. Department of Clinical and Molecular Genetics, Institute of Child Health, 30 Guildford Street, London WC1N 6EH, UK. Tel.: +44 207 905 2608; fax: +44 207 380 9984.

References 

  1. Efrat Z, Akinfenwa OO, Nicolaides KH. First trimester determination of fetal gender by ultrasound. Ultrasound Obstet Gynecol. 1999;13:305–307
  2. Hyett JA, Gardiner G, Stojilkovic-Mikic T, et al. Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy. Prenat Diagn. 2005;25(12):1111–1116
  3. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–487
  4. Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62:768–775
  5. Lo YMD. Fetal DNA in maternal plasma: biology and diagnostic implications. Clin Chem. 2000;46:1903–1906
  6. Lau TW, Leung TN, Chan LY, et al. Fetal DNA clearance from maternal plasma is impaired in preeclampsia. Clin Chem. 2002;48:2141–2146
  7. Chitty L, Daniels G, Finning K, et al. Prospective register of outcomes of free fetal DNA testing (PROOF) – results of the first year's audit. J Med Genet. 2007;44(Suppl. 1):S28
  8. Finning KM, Hogg J, Martin P, et al. Fetal sex determination using ffDNA in clinical practice, in press.
  9. Marteau TM, Chitty LS. Sex selection: triumph or tyranny?. Prenat Diagn. 2006;26(7):597
  10. Zimmermann B, El-Sheikhah A, Nicolaides K, Holzgreve W, Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Clin Chem. 2005;51(9):1598–1604
  11. Zhong XY, Holzgreve W, Hahn S. Detection of fetal Rhesus D and sex using fetal DNA from maternal plasma by multiplex polymerase chain reaction. BJOG. 2000;107:766–769
  12. Boon EM, Schlecht HB, Martin P, et al. Y chromosome detection by real time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma. Prenat Diagn. 2007;27(10):932–937
  13. Page-Christiaens GC, Bossers B, Van der Schoot CE, De Haas M. Use of bi-allelic insertion/deletion polymorphisms as a positive control for fetal genotyping in maternal blood: first clinical experience. Ann N Y Acad Sci. 2006;1075:123–129
  14. Chan KC, Ding C, Gerovassili A, et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem. 2006;52(12):2211–2218
  15. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. First trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn. 2001;21:1070–1074
  16. Mazza V, Falcinelli C, Percesepe A, Paganelli S, Volpe A, Forabosco A. Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases. Prenat Diagn. 2002;22:919–924
  17. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005;365:2125–2136
  18. Lajic S, Wedell A, Bui TH, Ritzen EM, Holst M. Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1998;83:3872–3880
  19. Joint LWPES/ESPE CAH Working Group . Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Paediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab. 2002;87:4048–4053
  20. Bartha JL, Finning K, Soothill PW. Fetal sex determination from maternal blood at 6 weeks of gestation when at risk for 21-hydroxylase deficiency. Obstet Gynecol. 2003;101:1135–1136
  21. Pajkrt E, Chitty LS. Prenatal gender determination and the diagnosis of ambiguous genitalia. Br J Urol Int. 2004;93(Suppl. 3):12–19
  22. Wilcox DT, Chitty LS. Non-visualisation of the fetal bladder: aetiology and management. Prenat Diagn. 2001;21:977–983
  23. Winter , Baraitser . The London dysmorphology database. Oxford Medical Databases; 2006;
  24. Pinhas-Hamiel O, Zalel O, smith E, et al. Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound. J Clin Endocrinol Metab. 2002;87:4547–4553
  25. Chitty LS, Gardener G, Overton . Picture of the month: oedematous polydactyly in Smith-Lemli-Opitz Type II. Ultrasound Obstet Gynecol. 2004;23(6):629–630
  26. Mansour S, Hall CM, Pembrey ME, Young ID. A clinical and genetic study of campomelic dysplasia. J Med Genet. 1995;32:415–420
  27. Al-Yatama MK, Mustafa AS, Ali S, Abraham S, Khan Z, Khaja N. Detection of Y chromosome-specific DNA in the plasma and urine of pregnant women using nested polymerase chain reaction. Prenat Diagn. 2001;21:399–402
  28. Farina A, Caramelli E, Concu M, et al. Testing normality of fetal DNA concentration in maternal plasma at 10–12 completed weeks' gestation: a preliminary approach to a new marker for genetic screening. Prenat Diagn. 2002;22:148–152
  29. Guibert J, Benachi A, Grebille AG, et al. Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum Reprod. 2003;18:1733–1736
  30. Honda H, Miharu N, Ohashi Y, Ohama K. Successful diagnosis of fetal gender using conventional PCR analysis of maternal serum. Clin Chem. 2001;47:41–46
  31. Honda H, Miharu N, Ohashi Y, et al. Human gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum Genet. 2002;110:75–79
  32. Hromadnikova I, Houbova B, Hridelova D, et al. Quantitative analysis of DNA levels in maternal plasma in normal and Down syndrome pregnancies. BMC Pregnancy Childbirth. 2002;2:4–9
  33. Nelson M, Eagle C, Langshaw M, Popp H, Kronenberg H. Genotyping fetal DNA by non-invasive means: extraction from maternal plasma. Vox Sang. 2001;80:112–116
  34. Rijnders RJP, Van der Schoot CE, Bossers B, De Vroede MAMJ, Christiaens GCML. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol. 2001;98:374–378
  35. Rijnders RJ, Van der Luijt RB, Peters ED, et al. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn. 2003;23:1042–1044
  36. Rijnders RJP, Christiaens CML, Soussan AA, van der Schoot CE. Cell-free fetal DNA is not present in plasma of non-pregnant mothers. Clin Chem. 2004;50(3):679–681
  37. Sekizawa A, Kondo T, Iwasaki M, et al. Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin Chem. 2001;47:1856–1858
  38. Smid M, Lagona F, de Benassuti L, Ferrari A, Ferrari M, Cremonesi L. Evaluation of different approaches for fetal DNA analysis from maternal plasma and nucleated blood cells. Clin Chem. 1999;45:1570–1572
  39. Hromadnikova I, Houbova B, Hridelova D, et al. Replicate real-time PCR testing of DNA in maternal plasma increases the sensitivity of non-invasive fetal sex determination. Prenat Diagn. 2003;23(3):235–238
  40. Zhong XY, Holzgreve W, Hahn S. Risk free simultaneous prenatal identification of fetal Rhesus D status and sex by multiplex real-time PCR using cell free fetal DNA in maternal plasma. Swiss Med Wkly. 2001;13:70–74
  41. Hwa HL, Ko TM, Yen ML, Chiang YL. Fetal gender determination using real-time quantitative polymerase chain reaction analysis of maternal plasma. J Formos Med Assoc. 2004;103(5):364–368

PII: S1744-165X(07)00153-9

doi: 10.1016/j.siny.2007.12.007

Seminars in Fetal & Neonatal Medicine
Volume 13, Issue 2 , Pages 69-75 , April 2008