Fetal sex identification in early pregnancy

1 Whitlow BJ, Lazanakis MS, Economides DL. The sonographic identification of fetal gender from 11 to 14 weeks of gestation. Ultrasound Obstet Gynecol 1999;13(5):301-4. Search in Google Scholar

2 Hsieh FJ, Shyu MK, Sheu BC, Lin SP, Chen CP, Huang FY. Limb defects after chorionic villus sampling: a study on its incidence and spectrum. Obstet Gynecol 1995;85(1):84-8. Search in Google Scholar

3 Finning KM, Chitty LS. Non–invasive fetal sex determination: impact on clinical practice. Semin Fetal Neonatal Med 2008;13(2):69-75. Search in Google Scholar

4 Speiser PW, Azziz R, Baskin L, Ghizzoni L, Hensle TW, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95(9):4133-60. Search in Google Scholar

5 Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002;58(4):188-95. Search in Google Scholar

6 Abrams MT, Reiss AL, Freund LS, Baumgardner TL, Chase GA, Denckla MB. Molecular-neurobehavioral associations in females with the fragile X full mutation. Am J Med Genet 1994;51(4):317-27. Search in Google Scholar

7 Baumgardner TL, Reiss AL, Freund LS, Abrams MT. Specification of the neurobehavioral phenotype in males with fragile X syndrome. Pediatrics 1995;95(5):744-52. Search in Google Scholar

8 Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325(24):1673-81. Search in Google Scholar

9 Wald NJ, Morris JK. A new approach to antenatal screening for Fragile X syndrome. Prenat Diagn 2003;23(4):345-51. Search in Google Scholar

10 Stocker J, Evens L. Fetal sex determination by ultrasound. Obstet Gynecol 1977;50(4):462-6. Search in Google Scholar

11 Barnett SB, Rott HD, Haar GR, Ziskin MC, Maeda K. The sensivity of biological tissue to ultrasound. Ultrasound Med Biol 1997;23(6):805-12. Search in Google Scholar

12 Kremkau FW: Diagnostic ultrasound: Principles and practice. Philadelphia: WB Saunders; 2002. Search in Google Scholar

13 Hershovitz R, Sheiner E, Mazor M. Ultrasound in obstetrics; a review of safety. Eur J O bstet Gynecol Reprod Biol 2002,101(1):15-8. Search in Google Scholar

14 Rott HD. Clinical Safety Statement for Diagnostic Ultrasound. Tours, France: European Federation for Societes for Ultrasound in Medicine and Biology; 1998. Eur J Ultrasound 1998, 8(1):67-8. Search in Google Scholar

15 Pośpiech-Gąsior K, Reroń A, Wójtowicz A. Ultrasonografia w położnictwie i ginekologii okiem praktyka. Ogólnopol Prz Med 2011;11:38-44. Search in Google Scholar

16 Elejalde BR, de Elejalde MM, Heitman T. Visualization of the fetal genitalia by ultrasonography: a review of the literature and analysis of its accuracy and ethical implications. J Ultrasound Med 1985;4(12):633-9. Search in Google Scholar

17 Sadler TW. The external genitalia of the urogenital system. Langman’s Medical Embryology. Baltimore: Williams & Wilkins; 2006. p. 229-54. Search in Google Scholar

18 Marshall FF. Embryology of the lower genitourinary tract. Urol Clin North Am 1978;5(1):3-15. Search in Google Scholar

19 Feldman KW, Smith DW. Fetal phallic growth and penile standards for newborn male infants. J Pediatr 1975;86(3):395-8. Search in Google Scholar

20 Harrington K, Armstrong V, Freeman J, Aquilina J, Campbell S. Fetal sexing by ultrasound in the second trimester:maternal preference and professional ability. Ultrasound Obstet Gynecol 1996;8(5):318-21. Search in Google Scholar

21 Efrat Z, Perri T, Ramati E, Tugendreich D, Meizner I. Fetal gender assignment by first-trimester ultrasound. Ultrasound Obstet Gynecol 2006;27(6):619-21. Search in Google Scholar

22 Benoit B. Early fetal gender determination. Ultrasound Obstet Gynecol 1999;13(5):299-300. Search in Google Scholar

23 Mazza V, Di Monte I, Pati M, Contu G, Ottolenghi C, Forabosco A, et al. Sonographic biometrical range of external genitalia differentiation in the first trimester of pregnancy: analysis of 2593 cases. Prenat Diagn 2004;24(9):677-84. Search in Google Scholar

24 Pedreira DA. In search for the ‘third point’. Ultrasound Obstet Gynecol 2000;15(3):262-3. Search in Google Scholar

25 Mazza V, Falcinelli C, Paganelli S, Contu G, Mantuano SM, Battafarano SD, et al. Sonographic early fetal gender assignment: a longitudinal study in pregnancies after in vitro fertilization. Ultrasound Obstet Gynecol 2001;17(6):513-6. Search in Google Scholar

26 Hsiao CH, Wang HC, Hsieh CF, Hsu JJ. Fetal gender screening by ultrasound at 11 to 13(+6) weeks. Acta Obstet Gynecol Scand 2008;87(1):8-13. Search in Google Scholar

27 Arfi A, Cohen J, Canlorbe G, Bendifallah S, Thomassin-Naggara I, Darai E, et al. First-trimester determination of fetal gender by ultrasound: measurement of the anogenital distance. Eur J Obstet Gynecol Reproduct Biol 2016;203:177-81. Search in Google Scholar

28 Efrat Z, Akinfenwa OO, Nicolaides KH. First-trimester determination of fetal gender by ultrasound. Ultrasound Obstet Gynecol 1999;13(5):305-7. Search in Google Scholar

29 Lubusky M, Studnickova M, Skrivanek A, Vomackova K, Prochazka M. Ultrasound evaluation of fetal gender at 12–14 weeks. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2012;156(4):324-9. Search in Google Scholar

30 Emerson DS, Felker RE, Brown DL. The sagittal sign. An early second trimester sonographic indicator of fetal gender. J Ultrasound Med 1989;8(6):293-7. Search in Google Scholar

31 Manzanares S, Benıtez A, Naveiro-Fuentes M, Lopez-Criado MS, Sanchez-Gila M. Accuracy of Fetal Sex Determination on Ultrasound Examination in the First Trimester of Pregnancy. J Clinic Ultrasound 2016;44(5):272-77. Search in Google Scholar

32 Chelli D, Methni A, Dimassi K, Boudaya F, Sfar E, Zouaoui B, et al. Fetal sex assignment by first trimester ultrasound: a Tunisian experience. Prenat Diagn 2009;29(12):1145-8. Search in Google Scholar

33 Pedreira DA, Yamasaki A, Czeresnia CE. Fetal phallus ‘erection’ interfering with the sonographic determination of fetal gender in the first trimester. Ultrasound Obstet Gynecol 2001;18(4):402-4. Search in Google Scholar

34 Mazza V, Contu G, Falcinelli C, Battafarano S, Cagnacci A, Vito G, et al. Biometrical threshold of biparietal diameter for certain fetal sex assignment by ultrasound. Ultrasound Obstet Gynecol 1999;13(5):308-11. Search in Google Scholar

35 Salazar-Martinez E, Romano-Riquer P, Yanez-Marquez E, Longnecker MP, Hernandez-Avila M. Anogenital distance in human male and female newborns: a descriptive, cross-sectional study. Environ Health 2004;3(1):8. Search in Google Scholar

36 Papadopoulou E, Vafeiadi M, Agramunt S, Basagana X, Mathianaki K, Karakosta P, et al. Anogenital distances in newborns and children from Spain and Greece: predictors, tracking and reliability. Paediatr Perinat Epidemiol 2013;27(1):89-99. Search in Google Scholar

37 Eisenberg ML, Hsieh T-C, Lipshultz LI. The relationship between anogenital distance and age. Andrology 2013;1(1):90-3. Search in Google Scholar

38 Welsh M, Saunders PTK, Fisken M, Scott HM, Hutchison GR, Smith LB, et al. Identification in rats of a programming window for reproductive tract masculinization, disruption of which leads to hypospadias and cryptorchidism. J Clin Invest 2008;118(4):1479-90. Search in Google Scholar

39 Dean A, Smith LB, Macpherson S, Sharpe RM. The effect of dihydrotestosterone exposure during or prior to the masculinization programming window on reproductive development in male and female rats. Int J Androl 2012;35(3):330-9. Search in Google Scholar

40 Li N, Chen X, Zhou X, Zhang W, Yuan J, Feng J. The mechanism underlying dibutyl phthalate induced shortened anogenital distance and hypospadias in rats. J Pediatr Surg 2015;50(12):2078-83. Search in Google Scholar

41 Fussell KC, Schneider S, Buesen R, Groeters S, Strauss V, Melching-Kollmuss S, et al. Investigations of putative reproductive toxicity of low-dose exposures to flutamide in Wistar rats. Arch Toxicol 2015;89(12):2385-402. Search in Google Scholar

42 Adibi JJ, Lee MK, Naimi AI, Barrett E, Nguyen RH, Sathyanarayana S, et al. Human chorionic gonadotropin partially mediates phthalate association with male and female anogenital distance. J Clin Endocrinol Metab 2015;100(9):E1216-24. Search in Google Scholar

43 Barrett ES, Parlett LE, Sathyanarayana S, Redmon JB, Nguyen RHN, Swan SH. Prenatal stress as a modifier of associations between phthalate exposure and reproductive development: results from a multicentre pregnancy cohort study. Paediatr Perinat Epidemiol 2015;30(2):105-14. Search in Google Scholar

44 Borowski J, Borowska J, Szczepańska-Przekota A, Walaszczyk A, Bulsa M. Predicting the sex of fetus in first trimester based on the crown-rump length. Pomeranian J Life Sci 2022;68(3):9-14. Search in Google Scholar

45 Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350(9076):485-7. Search in Google Scholar

46 Traeger-Synodinos J. Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases. Mol Aspects Med 2006;27 (2-3):176-91. Search in Google Scholar

47 Kolialexi A, Tounta G, Apostolou P, Vrettou C, Papantoniou N, Kanavakis E, et al. Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR. Eur J Obstet Gynecol Reprod Biol 2012;161(1):34-7. Search in Google Scholar

48 Lo YM, Patel P, Sampietro M, Gillmer MD, Fleming KA, Wainscoat JS. Detection of single-copy fetal DNA sequence from maternal blood. Lancet 1990;335(8703):1463-4. Search in Google Scholar

49 Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62(4):768-75. Search in Google Scholar

50 Zimmermann BG, Holzgreve W, Avent N, Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Ann N Y Acad Sci 2006;1075:347-9. Search in Google Scholar

51 Zhong XY, Holzgreve W, Hahn S. Direct quantification of fetal cells in maternal blood by real-time PCR. Prenat Diagn 2006;26(9):850-4. Search in Google Scholar

52 Zhu B, Sun QW, Lu YC, Sun MM, Wang LJ, Huang XH. Prenatal fetal sex diagnosis by detecting amelogenin gene in maternal plasma. Prenat Diagn 2005;25(7):577-81. Search in Google Scholar

53 Picchiassi E, Coata G, Fanetti A, Centra M, Pennacchi L, Di Renzo GC. The best approach for early prediction of fetal gender by using free fetal DNA from maternal plasma. Prenat Diagn 2008;28(6):525-30. Search in Google Scholar

54 Ren CC, Miao XH, Cheng H, Chen L, Song WQ. Detection of fetal sex in the peripheral blood of pregnant women. Fetal Diagn Ther 2007;22(5):377-82. Search in Google Scholar

55 Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. Firsttrimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn 2001;21(12):1070-4. Search in Google Scholar

56 Mazza V, Falcinelli C, Percesepe A, Paganelli S, Volpe A, Forabosco A. Noninvasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases. Prenat Diagn 2002;22(10):919-24. Search in Google Scholar

57 Boon EMJ, Schlecht HB, Martin P, Daniels G, Vossen RHAM, den Dunnen JT, et al. Y chromosome detection by Real Time PCR and pyrophosphorolysisactivated polymerisation using free fetal DNA isolated from maternal plasma. Prenat Diagn 2007;27(10):932-7. Search in Google Scholar

58 Bustamante-Aragones A, Rodriguez de Alba M, Gonzalez-Gonzalez C, Trujillo-Tiebas MJ, Diego-Alvarez D, Vallespin E, et al. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Haemophilia 2008;14(3):593-8. Search in Google Scholar

59 Farina A, Caramelli E, Concu M, Sekizawa A, Ruggeri R, Bovicelli L, 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(2):148-52. Search in Google Scholar

60 Hyett JA, Gardener G, Stojilkovic-Mikic T, Finning KM, Martin PG, Rodeck CH, et al. Reduction in diagnostic and therapeutic interventions by noninvasive determination of fetal sex in early pregnancy. Prenat Diagn 2005;25(12):1111-6. Search in Google Scholar

61 Liu FM, Wang XY, Feng X, Wang W, Ye YX, Chen H. Feasibility study of using fetal DNA in maternal plasma for non-invasive prenatal diagnosis. Acta Obstet Gynecol Scand 2007;86(5):535-41. Search in Google Scholar

62 Martinhago CD, de Oliveira RM, Tomitao Canas Mdo C, Vagnini LD,Alcantara Oliveira JB, Petersen CG, et al. Accuracy of fetal gender determination in maternal plasma at 5 and 6 weeks of pregnancy. Prenat Diagn 2006;26(13):1219-23. Search in Google Scholar

63 Rijnders RJ, van der Schoot CE, Bossers B, de Vroede MA, Christiaens GC. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol 2001;98(3):374-8. Search in Google Scholar

64 Stanghellini I, Bertorelli R, Capone L, Mazza V, Neri C, Percesepe A, et al. Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe. Mol Hum Reprod 2006;12(9):587-91. Search in Google Scholar

65 Vainer OB, Katokhin AV, Kustov SM, Vlassov VV, Laktionov PP. A new Y chromosome marker for noninvasive fetal gender determination. Ann N Y Acad Sci 2008;1137:157-61. Search in Google Scholar

66 Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update 2009;15(1):139-51. Search in Google Scholar

67 Bianchi DW, Parsa S, Bhatt S, Halks-Miller M, Kurtzman K, Sehnert AJ, et al. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol 2015;125(2):375-82. Search in Google Scholar

68 Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and metaanalysis. JAMA 2011;306(6):627-36. Search in Google Scholar

69 Wright CF, Wei Y, Higgins JP, Sagoo GS. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Res Notes 2012;5:476. Search in Google Scholar

70 Mongelli M, Wilcox M, Gardosi J. Estimating the date of confinement: ultrasonographic biometry versus certain menstrual dates. Am J Obstet Gynecol 1996;174(1):278-81. Search in Google Scholar

71 Rijnders RJ, Van Der Luijt RB, Peters ED, Goeree JK, Van Der Schoot CE, Ploos Van Amstel JK, et al. Earliest gestational age for fetal sexing in cellfree maternal plasma. Prenat Diagn 2003;23(13):1042-4. Search in Google Scholar

72 Simpson JL, Elias S. Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology. JAMA 1993;270(19):2357-61. Search in Google Scholar

73 Lo YM. Fetal DNA in maternal plasma: biology and diagnostic applications. Clin Chem 2000;46(12):1903-6. Search in Google Scholar

74 Invernizzi P, Biondi ML, Battezzati PM, Perego F, Selmi C, Cecchini F, et al. Presence of fetal DNA in maternal plasma decades after pregnancy. Hum Genet 2002;110(6):587-91. Search in Google Scholar

75 Skinner J, Luettich K, Ring M, O’Leary JJ, Turner MJ. Fetal DNA in maternal circulation of first-trimester spontaneous abortions. Obstet Gynecol 2001;97(3): 460-3. Search in Google Scholar

76 Odeh M, Granin V, Kais M, Ophir E, Bornstein J. Sonographic fetal sex determination. Obstet Gynecol Surv 2009;64(1):50-7. Search in Google Scholar

77 Firth HV, Boyd PA, Chamberlain PF, MacKenzie IZ, Morriss-Kay GM, Huson SM. Analysis of limb reduction defects in babies exposed to chorionic villus sampling. Lancet 1994;343(8905):1069-71. Search in Google Scholar

78 Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007;110(3):687-94. Search in Google Scholar

79 Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27(1):1-7. Search in Google Scholar

80 Ahmed S, Saleem M, Sultana N, Raashid Y, Waqar A, Anwar M, et al. Prenatal diagnosis of beta-thalassaemia in Pakistan Experience in a Muslim country. Prenat Diagn 2000;20(5):378-83. Search in Google Scholar

81 Costa J-M, Benachi A, Gautier E. New strategy for prenatal diagnosis of X-linked disorders. N Engl J Med 2002;346(19):1502. Search in Google Scholar

82 Pajkrt E, Chitty LS. Prenatal gender determination and the diagnosis of genital anomalies. BJU Int 2004;93(Suppl. 3):9-12. Search in Google Scholar

83 Colmant C, Morin-Surroca M, Fuchs F, Fernandez H, Senat MV. Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant?. Eur J Obstet Gynecol Reprod Biol 2013:171(2);197-204. Search in Google Scholar

84 Chi C, Hyett JA, Finning KM, Lee CA, Kadir RA. Non-invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia. BJOG 2006;113(2):239-42. Search in Google Scholar

85 Smith RP, Lombaard H, Soothill PW. The obstetrician’s view: ethical and societal implications of non-invasive prenatal diagnosis. Prenat Diagn 2006;26(7):631-4. Search in Google Scholar