Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

Palabras clave: desarrollo sexual, diagnóstico prenatal, ultrasonografía, enfermedades fetales

Resumen

Objetivo: hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. Materiales y métodos: a partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de la especialidad. Conclusión: en comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son una impresión de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

Descargas

La descarga de datos todavía no está disponible.

Biografía del autor/a

Álvaro López Soto, Hospital General Universitario Santa Lucía, Cartagena (España).

Unidad de Diagnóstico Prenatal, Hospital General Universitario Santa Lucía, Cartagena (España).

Referencias bibliográficas

Chitayat D, Glanc P. Diagnostic approach in prenatally detected genital abnormalities. Ultrasound Obstet Gynecol. 2010;35(6):637-46. https://doi.org/10.1002/uog.7679

Akpinar F, Yilmaz S, Akdag Cirik D, Kayikcioglu F, Dilbaz B, Yucel H, et al. Sonographic assessment of the fetal penile development. Fetal Pediatr Pathol. 2016;35(2):88-92. https://doi.org/10.3109/15513815.2015.1135494

Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clin Endocrinol (Oxf). 2016;84(5):771-88. https://doi.org/10.1111/cen.12857

Abinader R, Warsof SL. Benefits and pitfalls of ultrasound in obstetrics and gynecology. Obstet Gynecol Clin NA. 2019;46(2):367-78. https://doi.org/10.1016/j.ogc.2019.01.011

Hughes IA, Houk CP, Ahmed SF, Lee P. Consensus statement on management of intersex disorders. Pediatrics. 2006;118(2):e488-500. https://doi.org/10.1542/peds.2006-0738

Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global disorders of sex development update since 2006: Perceptions, approach and care. Horm Res Paediatr. 2016;085:158-80. https://doi.org/10.1159/000442975

Rolston AM, Gardner M, van Leeuwen K, Mohnach L, Keegan C, Vilain E, et al. Disorders of Sex Development (DSD): Clinical service delivery in the United States. AM J Med Genet C Semin Med Genet. 2017;175(2):268-78. https://doi.org/10.1002/ajmg.c.31558

Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, et al. Caring for individuals with a difference of sex development (DSD): A Consensus Statement. Nat Rev Endocrinol. 2018;14:415-29. https://doi.org/10.1038/s41574-018-0010-8

Krishnan A, Pike JI, Mccarter R, Fulgium AL, Wilson E, Donofrio MT, et al. Predictive Models for Normal Fetal Cardiac Structures. J Am Soc Echocardiogr. 2020;29(12):1197-206. https://doi.org/10.1016/j.echo.2016.08.019

Mark Curran. Skeletal Survey Calculator. Disponible en: http://perinatology.com/calculators/Skeletal Survey.html

Brennan S, Watson D, Rudd D, Schneider M, Kandasamy Y. Evaluation of fetal kidney growth using ultrasound: A systematic review. Eur J Radiol. 2017;96:55-64. https://doi.org/10.1016/j.ejrad. 2017.09.017

Achiron R, Pinhas-Hamiel O, Zalel Y, Rotstein Z, Lipitz S. Development of fetal male gender: Prenatal sonographic measurement of the scrotum and evaluation of testicular descent. Ultrasound Obstet Gynecol. 1998;11(4):242-5. https://doi.org/10.1046/j.1469-0705.1998.11040242.x

Nemec U, Weber M, Kasprian G, Krestan CR, Graham JM, Prayer D. Female external genitalia on fetal magnetic resonance. Ultrasound Obstet Gynecol. 2011;38(6):695-700;38(6):695-700. https://doi.org/10.1002/uog.8973

Rotondi M, Valenzano F, Bilancioni E, Spano G, Rotondi M, Giorlandino C. Prenatal measurement of testicular diameter by ultrasonography: Development of fetal male gender and evaluation of testicular descent. Prenat Diagn. 2001;21(2):112-5. https://doi.org/10.1002/1097-0223(200102)21:2<112:AIDPD2>3.0.CO;2-1

Perlitz Y, Keselman L, Haddad S, Mukary M, Izhaki I, Ben-Ami M. Prenatal sonographic evaluation of the penile length. Prenat Diagn. 2011;31:1283-5. https://doi.org/10.1002/pd.2885

Pinette MG, Wax JR, Blackstone J, Cartin A. Normal growth and development of fetal external genitalia demonstrated by sonography. J Clin Ultrasound. 2003;31(9):465-72. https://doi.org/10.1002/jcu.10207

Nemec SF, Nemec U, Weber M, Kasprian G, Brugger PC, Krestan CR, et al. Male sexual development in utero: Testicular descent on prenatal magnetic resonance imaging. Ultrasound Obstet Gynecol. 2011;38(6):688-94. https://doi.org/10.1002/uog.8964

Kane SC, Ancona E, Reidy L. The utility of the congenital pulmonary airway malformation-volume ratio in the assessment of fetal echogenic lung lesions: A systematic review. Fetal Diagn Ther. 2020;47(3):171-181. https://doi.org/10.1159/000502841

Ge S, Maulik D. Introduction: From fetal echocardiography to fetal cardiology : A journey of over half a century. Echocardiography. 2017; 34(12):1757-1759. https://doi.org/10.1111/echo.13776

van der Knoop B, Zonnenberg I, Verbeke J, de Vries LS, Pistorius LR, van Weissenbruch MM, et al. Additional value of advanced neurosonography and magnetic resonance imaging in fetuses at risk for brain damage. Ultrasound Obstet Gynecol. 2020;56(3):348-58. https://doi.org/10.1002/uog.21943

Gilboa Y, Perlman S, Kivilevitch Z, Messing B, Achiron R. Prenatal anogenital distance is shorter in fetuses with hypospadias. J Ultrasound Med. 2017;36(1):175-82. https://doi.org/10.7863/ultra.16.01006

Fuchs F, Borrego P, Amouroux C, Antoine B, Ollivier M, Faure JM, et al. Prenatal imaging of genital defects: Clinical spectrum and predictive factors for severe forms. BJU Int. 2019;124(5):876-82. https://doi.org/10.1111/bju.14714

Committee CS. ISUOG Practice Guidelines: Role of ultrasound in twin pregnancy. Ultrasound Obstet Gynecol. 2016;47:247-63. https://doi.org/10.1002/uog.15821

Kosinski P, Wielgos M. Congenital diaphragmatic hernia: Pathogenesis, prenatal diagnosis and management — literature review. Ginekol Pol. 2017;88(1):24-30. https://doi.org/10.5603/GP.a2017.0005

Ornoy A, Ergaz Z. Parvovirus B19 infection during pregnancy and risks to the fetus. Birth Defects Res. 2017;109(5):311–23.109(5):311-23. https://doi.org/10.1002/bdra.23588

Pajkrt E, Petersen OB, Chitty LS. Fetal genital anomalies: An aid to diagnosis. Prenat Diagn. 2008; 28(5):389-98. https://doi.org/10.1002/pd.1979

Adam MP, Fechner PY, Ramsdell LA, Badaru A, Grady RE, Pagon RA, et al. Ambiguous genitalia: What prenatal genetic testing is practical? Am J Med Genet Part A. 2012;158 A(6):1337-43. https://doi.org/10.1002/ajmg.a.35338

Shi Y, Zhang B, Kong F, Li X. Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors. Medicine. 2018;97(29):e11471. https://doi.org/10.1097/MD.0000000000011471

Alam A, Sahu S, Indrajit IK, Sahani H, Bhatia M, Kumar R. Gastroschisis-antenatal diagnosis. Med J Armed Forces India. 2011;67(2):169-170. https://doi.org/10.1016/S0377-1237(11)60026-9

Morris RK, Middleton LJ, Malin GL, Daniels J, Khan KS, Deeks J, et al. Outcome in fetal lower urinary tract obstruction: a prospective registry. Ultrasound Obstet Gynecol. 2015;46(4):424–31. https://doi.org/10.1002/uog.14808

Adzick N, Thom E, Spong C, Brock J, Burrows PK, Johnson MP, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011;364(11):993–1004. https://doi.org/10.1056/NEJMoa1014379

Sexton P, Thomas JT, Petersen S, Brown N, Arms JE, Bryan J, et al. Complete penoscrotal transposition: Case report and review of the literature. Fetal Diagn Ther. 2015;37(1):70-4. https://doi.org/10.1159/000358592

Ochiai D, Omori S, Ikeda T, Yakubo K, Fukuiya T. A rare case of meconium periorchitis diagnosed in utero. Case Rep Obstet Gynecol. 2015;2015:1-2. https://doi.org/10.1155/2015/606134

Inde Y, Terada Y, Ikegami E, Sekiguchi A, Nakai A, Takeshita T. Bifid scrotum and anocutaneous fistula associated with a perineal lipomatous tumor complicated by temporary bilateral cryptorchidism in utero mimicking ambiguous genitalia: 2-D/3-D fetal ultrasonography. J Obstet Gynaecol Res. 2014;40(3):843-8. https://doi.org/10.1111/jog.12232

Copel J, D’Alton M, Feltovich H, Gratacós E, Odibo A, Platt L, et al. Obstetric Imaging: Fetal Diagnosis and Care. Philadelphia: Elsevier Inc.; 2017.

Gratacós E, Figueras F, Martínez J. Fetal Medicine. 2nd ed. Pubns Z& U, editor. Madrid: Editorial Panamericana; 2018.

Docimo S, Canning D, Khoury A, Pippi Salle JL. Textbook of Clinical Pediatric Urology. 6th ed. CRC Press; 2018.

Ministerio de Salud y Protección Social de Colombia - Colciencias. Guía de práctica clínica. Guía No. 03: Detección de anomalías congénitas en el recién nacido. Bogotá; 2013. Disponible en https://medicosgeneralescolombianos.com/images/Guias_2013/gpc_03prof_sal_ac.pdf

Grimbizis GF, Di A, Sardo S, Saravelos SH, Gordts S, Exacoustos C, et al. The Thessaloniki ESHRE/ESGE consensus on diagnosis of female genital anomalies. Hum Reprod. 2016;31(1):2-7. https://doi.org/10.1093/humrep/dev264

Manjunath KN, Venkatesh MS. M-Plasty for Correction of incomplete penoscrotal transposition. World J Plast Surg. 2014;3(2):138-41.

Theodoridis TD, Obstetrics A, Grimbizis GF. Best practice & research clinical obstetrics and gynaecology surgical management of congenital uterine anomalies (including indications and surgical techniques). Best Pract Res Clin Obstet Gynaecol. 2020;59(2019):66-76. https://doi.org/10.1016/j.bpobgyn.2019.02.006

I-DSD. I-DSD Registry. Disponible en: https://home.i-dsd.org/

Ahmed SF, Dobbie R, Finlayson AR, Gilbert J, Youngson G, Chalmers J, et al. Prevalence of hypospadias and other genital anomalies among singleton births, 1988-1997, in Scotland. Arch Dis Child Fetal Neonatal Ed. 2004;89(2):149F-151. https://doi.org/10.1136/adc.2002.024034

They U, Lanz K, Holterhus PM, Hiort O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006;66(4):195-203. https://doi.org/10.1159/000094782

Fernández N, Pérez J, Monterrey P, Poletta FA, Bägli DJ, Lorenzo J, et al. ECLAMC Study. Prevalence patterns of hypospadias in South America: multinational analysis over a 24-year period. Int Braz J Urol. 2017;43(2):325-34. https://doi.org/10.1590/s1677-5538.ibju.2016.0002

Paulozzi LJ. International trends in rates of hypospadias and cryptorchidism. Environ Health Perspect. 1999;107(4):297-302. https://doi.org/10.1289/ehp.99107297

Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol. 2000;12(2):151-66. https://doi.org/10.1002(SICI)1520-6300(200003/04)12:2<151::AIDAJHB1>3.0.CO;2-F

Braga LH, Lorenzo AJ, Romao RLP. Canadian Urological Association-Pediatric Urologists of Canada (CUA-PUC) guideline for the diagnosis, management, and followup of cryptorchidism. Can Urol Assoc J. 2017;11(7):E251-60. https://doi.org/10.5489/cuaj.4585

Keays MA, Dave S. Current hypospadias management: Diagnosis, surgical management, and longterm patient-centred outcomes. Can Urol Assoc J. 2017;11(1-2Suppl1):S48-S53. https://doi.org/10.5489/cuaj.4386

Winter RM, Baraitser M . The London Dysmorphology Data- base. Oxford: Oxford University Press; 2001.

Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017;102(10):968-74. https://doi.org/10.1136/archdischild-2016-311270

Cheng PS, Chanoine JP. Should the definition of micropenis vary according to ethnicity? Horm Res. 2001;55(6):278-81. https://doi.org/10.1159/000050013

Salomon LJ, Alfirevic Z, Berghella V, Bilardo C, Hernandez-Andrade E, Johnsen SL, et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2011;37(1):116-26. https://doi.org/10.1002/uog.8831

van der Knoop B, Zonnenberg I, Verbeke J, de Vries L, Pistorius L, van Weissenbruch M, et al. Aditional value of advanced neurosonography and magnetic resonance imaging in fetuses at risk for brain damage. Ultrasound Obstet Gynecol. 2019;56(3):348-58.

Ge S, Maulik D. Introduction. From fetal echocardiography to fetal cardiology: A journey of over half a century. Echocardiography. 2017;34(12):1757-9. https://doi.org/10.1111/echo.13776

Garel J, Blondiaux E, Valle V Della, Guilbaud L, Khachab F, Jouannic J, et al. The perineal midsagittal view in male fetuses — pivotal for assessing genitourinary disorders. Pediatr Radiol. 2020;50(4):575-82. https://doi.org/10.1007/s00247-019-04551-w

Stocker J, Evens L. Fetal sex determination by ultrasound. Obstet Gynecol. 1977;50(4):462–6.

Mohapatra S. Global Legal Responses to Prenatal Gender Identification and Sex Selection. Nev. L. J. 2013;13(3):690.

Kessler SJ, McKenna W. Gender: An Ethnomethodological Approach. Chicago: University of Chicago Press; 1978.

Kearin M, Pollard K, Garbett I. Accuracy of sonographic fetal gender determination: Predictions made by sonographers during routine obstetric ultrasound scans. Australas J Ultrasound Med. 2015;17(3):125-30. https://doi.org/10.1002/j.2205-0140.2014.tb00028.x

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. https://doi.org/10.1016/j.ejogrb.2013.09.005

Akolekar R, Farkas DH, Vanagtmael AL, Bombard AT, Nicolaides KH. Fetal sex determination using circulating cell-free fetal DNA (ccffDNA) at 11 to 13 weeks of gestation. Prenat Diagn. 2010;30(10):918-23. https://doi.org/10.1002/pd.2582

Reddy UM, Abuhamad AZ, Levine D, Saade GR. Fetal imaging: Executive summary of a joint Eunice Kennedy Shriver National Institute of Child Health and Human Development, Society for Maternal-Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetricians and Gynecolog. Obstet Gynecol. 2014;123(5):1070-82. https://doi.org/10.1016/j.ajog.2014.02.028

Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999;181(2):446-54. https://doi.org/10.1016/S0002-9378(99)70577-6

Temming LA, Macones GA. Seminars in Perinatology what is prenatal screening and why to do it? Semin Perinatol. 2020;40(1):3-11. https://doi.org/10.1053/j.semperi.2015.11.002

Al-Jurayyan NAM. Ambiguous genitalia: Two decades of experience. Ann Saudi Med. 2011;31(3):284-8. https://doi.org/10.4103/0256-4947.81544

Vats P, Dabas A, Jain V, Seth A, Yadav S, Kabra M, et al. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia. Indian Pediatr. 2020;57(1):49-55. https://doi.org/10.1007/s13312-020-1703-3

Haeri S. Fetal Lower Urinary Tract Obstruction (LUTO): A practical review for providers. Matern Heal Neonatol Perinatol. 2015;1:26. https://doi.org/10.1186/s40748-015-0026-1

Hatipoglu N, Kurtoglu S. Micropenis: Etiology, Diagnosis and Treatment Approaches. J Clin Res Pediatr Endocrinol. 2013;5(4):217-23. https://doi.org/10.4274/Jcrpe.1135

National Institute for Health and Care Excellence. Abortion care. NICE Guideline (NG140). 2019. Disponible en: https://www.nice.org.uk/guidance/ng140

Committee on Health Care for Underserved Women. Committee Opinion: Abortion Training and Education. Obstet Gynecol. 2017;(612):1-5.

Oliveira MDS, Paiva-e-silva RB De, Guerra-junior G. Parents’ experiences of having a baby with ambiguous genitalia. 2015;28:833-8. https://doi.org/10.1515/jpem-2014-0457

Lathrop B, Cheney T, Hayman A. Ethical Decision-Making in the Dilemma of the Intersex Infant. Issues Compr Pediatr Nurs. 2014;37(1):25-8. https://doi.org/10.3109/01460862.2013.855842

Mccann-Crosby B, Sutton VR. Disorders of sexual development. Clin Perinatol. 2020;42(2):395-412. https://doi.org/10.1016/j.clp.2015.02.006

López A, Vázquez R, Rubio M, Lorente A, García O, Martínez J. La importancia del sexo fetal en la ecografía morfológica: genitales ambiguos y disgenesia gonadal mixta. Prog Obstet Ginecol. 2017;60(5):474-9.

Franasiak JM, Yao X, Ashkinadze E, Rosen T, Scott RT. Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis. Obstet Gynecol. 2015;125(2):383-6. https://doi.org/10.1097/AOG.0000000000000503

Perlitz Y, Keselman L, Haddad S, Mukary M, Izhaki I, Ben-Ami M. Prenatal sonographic evaluation of the penile length. Prenat Diagn. 2011;31:1283-5. https://doi.org/10.1002/pd.2885

Peterson C, Skoog S. Prenatal diagnosis of juvenile granulosa cell tumor of the testis. J Pediatr Urol. 2008;4(6):472-4. https://doi.org/10.1016/j.jpurol.2008.04.005

Moaddab A, Sananes N, Hernandez-Ruano S, Britto ISW, Blumenfeld Y, Stoll F, et al. Prenatal diagnosis and perinatal outcomes of congenital megalourethra: A multicenter cohort study and systematic review of the literature. J Ultrasound Med. 2015;34(11):2057-64. https://doi.org/10.7863/ultra.14.12064

Scibetta EW, Gaw SL, Rao RR, Silverman NS, Han CS, Platt LD. Clinical accuracy of abnormal cell-free fetal DNA results for the sex chromosomes. Prenat Diagn. 2017;37(13):1291-7. https://doi.org/10.1002/pd.5146

van der Sluijs JW, den Hollander JC, Lequin MH, Nijman RM, Robben SGF. Prenatal testicular torsion: Diagnosis and natural course. An ultrasonographic study. Eur Radiol. 2004;14(2):250-5. https://doi.org/10.1007/s00330-003-2019-0

Zimmer E, Blazer S, Blumenfeld Z, Bronshtein M. Fetal transient clitoromegaly and transient hypertrophy of the labia minora in early and mid pregnancy. J Ultrasound Med. 2012;31(3):409–15. https://doi.org/10.7863/jum.2012.31.3.409

Vuillard E, Chitrit Y, Dreux S, ElGhoneimi A, Oury J, Muller F. Sonographic measurement of corpus spongiosum in male fetuses. Prenat Diagn. 2011;31(12):1160–3. https://doi.org/10.1002/pd.2854

Tasian GE, Hittelman AB, Kim GE, DiSandro MJ, Baskin LS. Age at orchiopexy and testis palpability predict germ and leydig cell loss: Clinical predictors of adverse histological features of cryptorchidism. J Urol. 2009;182(2):704-9. https://doi.org/10.1016/j.juro.2009.04.032

Publicado
2020-09-07
Cómo citar
1.
López Soto Álvaro. Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal. Rev. Colomb. Obstet. Ginecol. [Internet]. 7 de septiembre de 2020 [citado 24 de octubre de 2020];71(3):275-8. Disponible en: https://revista.fecolsog.org/index.php/rcog/article/view/3446
Sección
Artículo de Reflexión