O Diagnóstico Pré-Natal
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Palabras clave

anomalía congénita
anomalía cromosómica
diagnóstico pré-natal
retrospectiva
vida intrauterin

Cómo citar

Bernal, L. M., & López, G. (2014). O Diagnóstico Pré-Natal. Nova, 12(21), 23 - 36. https://doi.org/10.22490/24629448.1838

Resumen

O Diagnóstico Pré-Natal (DPN) é um conjunto de técnicas destinado a investigar a saúde fetal ainda no período de vida intrauterina. É dirigido principalmente a casais com risco aumentado de gerar uma criança com uma anomalia genética ou congênita. Seu objetivo fundamental pressupõe a identificação de anomalias cromossômicas, malformações, doenças metabólicas mendelianas e
outras alterações circunstancialmente adquiridas durante a gestação e com repercussões sobre o feto

https://doi.org/10.22490/24629448.1838
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Milunsky A. Genetic Disorders and The fetus: Diagnosis, Prevention and Treatment. Johns Hopkins University Press.1992; 3th Ed. Baltimore.

Pinto Jr.W. Diagnóstico pré-natal. Ciência & Saúde Coletiva. 2002; 7(1):139-157.

Castro I. El diagnóstico prenatal de defectos cromosómicos en Costa Rica. Rev. Biol. Trop. 2004; 52 (3): 545-549.

Simpson J.L. Invasive procedures for prenatal diagnosis: Any future left? Best. Pract. Res. Clinical. Obstet. Gynaecol. 2012; 26: 625 – 638.

Serr D.M., Sachs L, Danon M. Diagnosis of sex before birth using cells from amniotic fluid. Bull. Res. Coundl. Isr.1995; 58:137-138.

Fuchs F., Rus P. Antenatal sex determination. Nature. 1956;177:330.

James F. Sexing foetuses by examination of amniotic fluid. Lancet. 1956; 1:202.

Makowski E., Prem K., Kaiser I.H. Detection of Sex of fetuses by the incidence of sex chromatin in nuclei of cells in amniotic fluid. Science.1956;123: 542.

Tjio T.H., Levan A. The chromosome number of man. Hereditas. 1956;42:1.

Fuchs F., Philip J. Possibility of antenatal examination of fetal chromosome. Nord. Med. 1963; 69:572.

Steele M.W., Breg W.R. Chromosome analysis of human amniotic fluid cells. Lancet. 1966;1:383-386.

Thiede H.A., Creasman W.T., Metcalfe S. Antenatal analysis of the human chromosomes. Am. J. Obstet. Gynecol. 1966;

:589.

Jacobson C.B., Barter R.H. Intrauterine diagnosis and management of genetic defects. Am. J. Obstet. Gynecol. 1967; 99:796.

Valenti C., Schutta E.J., Kehaty T. Prenatal diagnosis of Down’s syndrome. Lancet. 1968; 2:220.

Nadler H.L. Antenatal detection of hereditary disorders. Pediatrics. 1968; 42:912.

Brock D.J., Stucliffe R.G. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spine bifida. Lancet. 1972; 2:197.

Woo J. A short history of the developments of ultrasound in obstetrics and gynecology. Disponível na Internet. http://www.ob-ultrasound.net/history.html.2006.

Merkatz I.R., Nitowsky H.N., Macri J.N., Johnson W.E. An association between low maternal serum alpha-fetoprotein and fetal chromosome abnormalities. Am. J. Obstet. Gynecol.

; 148:886-891.

Bogart M.H., Paudian N.R., Jones O.W. Abnormal maternal serum chorionic gonadotropine levels in pregnancies with fetal chromosome abnormalities, Prenat. Diagn.1987; 7:623-630.

Wald N.J., Cuckle H.S., Densen J.W. Maternal serum screening for Down’s syndrome in early pregnancy. Br. Med. J.1988; 297:883-887.

Canick J.A., Knight G.J., Palomaki G.E., Haddow J.E., Cuckle H.S., Wald N J. Low second trimester maternal serum unconjugated estriol in pregnancies with Down syndrome. Br. J.

Obstet. Gynaecol. 1988; 95:330-333.

Macintosh M.C., lies R., Teisner B., Sharma K., Chard T., Grudzinskas J.G. Maternal serum human chorionic gonadotrophin and pregnancy-associated plasma protein a markers

for fetal Down syndrome at 8-14 weeks. Prenat. Diagn. 1994; 14:203-208.

Spencer K. Screening for trisomy 21 in twin pregnancies in the first trimester using free p-hCG and PAPP-A, combined with fetal nuchal translucency thickness. Prenat. Diagn. 2000;

:91-95.

Martín Navas I., López Escribano H. Cribado prenatal de anomalías congénitas: Marcadores y estrategias. Ed. Cont. Lab. Clín. 2007; 11:9-18.

Russo M., Blakemore K. A historical and practical review of first trimester aneuploidy screening. Seminars in Fetal & Neonatal Medicine. 2014; 19:183-187.

Wald N.J., George L, Smith D., Densem J.W., Petterson K. Serum screening for Down’s syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research

Group. Br. J. Obstet. Gynaecol. 1996; 103:407-412.

Haddow J.E., Palomaki G.E., Knight G.J., Foster D.L., Neveux L.M. Second trimester screening for Down’s syndrome using maternal serum dimeric inhibin. A.J Med. Screen. 1998; 5:115-119.

Jones K.L. Smith’s recognizable patterns of human malformation. WB Saunders.1998; 4th ed. London.

Nicolaides K.H., Azar G., Byrne D., Mansur C., Marks K. Fetal nuchal translucency: Ultrasound screening for chromosomal defects in first trimester of pregnancy. Br. Med. J. 1992; 304:867-869.

Johnson M.P., Johnson A., Holzgreve W. First trimester simple hygroma: Cause and outcome. Am. J. Obstet. Gynecol. 1993; 161:156-161.

Snijders R.J., Johnson S., Sebire N.J., Noble P.L, Nicolaides K.H. First-trimester ultrasound screening for chromosomal defects. Ultrasound. Obstet Gynecol.1996; 7:216-226.

Brambati B., Cislaghi C., Tului L. First trimester Down’s syndrome screening using nuchal translucency: A prospective study in patients undergoing chorionis villus sampling. Ultrasound.

Obstet. Gynecol. 1995; 5:9-14.

Nicolaides K.H., Snijders R.J., Cuckle H.S. Correct estimation of parameters for ultrasound nuchal translucency screening. Prenat. Diagn., 1998; 18: 519-523.

De Biasio P., Siccardi M., Volpe G., Famularo L., Santi F., Canini S. First-trimester screening for Down syndrome using nuchal translucency measurement with free beta-hCG and

PAPP-A between 10 and 13 weeks of pregnancy-the combined test. Prenat Diagn. 1999; 19:360-363.

Sabría J., Cabrero D., Aleixandre R.N., Vila I., Bach C. Cribajes bioquímico y bioquímico-ecográfico de las cromosomopatías en el primer trimestre. Falsos positivos. Prog. Diagn.

Prenat., 1999; 11(1):20-26.

Krantz D.A., Hallahan T.W., Orlandi F., Buchanan P., Larsen J.W., Macri J.N. First trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet.

Gynecol.2000; 96:207-213.

Wapner R., Thom E., Simpson J.L., Pergament E., Silver R., Filkins K., et al. First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study

Group. First-trimester screening for trisomies 21 and 18. N. Engl. J. Med. 2003;349:1405–1413.

Gupta G.K., Bianchi D.W. Diagnóstico do DNA para o obstetra practicante. In: Clínicas Obstétricas e Ginecológicas da América do Norte. Diagnóstico e Tratamento Fetal. Reece

E.A. Interlivros. Rio de Janeiro. 1997; (1).

Sheth F., Sheth H., Pritti K., Tewari S., Desai M., Patel B., and Sheth J. Evolution of Cytogenetics in Disease Diagnosis. J. Transl. Toxicol.2014; 1(1):3-9.

Bianchi D.W., Flint A.F., Pizzimenti M.F., Knoll J.H., Latt S.A. Isolation of fetal DNA from nucleated erytrocytes in maternal blood. Proc. Natl. Acad. Sci. 1990; 87(9):3279-3283.

Simpson J.L. Isolating fetal cells in maternal circulation for prenatal diagnosis. Prenat. Diagn.1994; 14:1229-1242.

Mieke W.J., Jansen C., Lindern M., Beug H., Brandenburg H., Wildschut H.I., Wladimiroff J.W., Veld P.A. The use of in vitro expanded erythroid cells in a model system for the isolation of fetal cells from maternal blood. Prenat. Diagn. 1999; 19:323-329.

Bianchi DW. Fetomaternal cell traffic, pregnancy-associated progenitor cells, and

autoimmune disease. Best. Pract. Res. Clin. Obstet. Gynaecol. 2004; 18(6):959-975.

Silveira Ramos E. DNA livre fetal em plasma materno e diagnóstico pré-natal não invasivo. Ver. Latino-am. Enfermagem. 2006; 14(6).

Carrera M., Boada M., De la Iglesia C., Barri P.N., Veiga A. Avances en diagnóstico citogenético preimplantacional. Prog. Diagn. Prenat. 1998; 10(3):123-133.

Wells D., Kaur K., Grifo J., Glassner M., Taylor J., Fragouli E., Munne S. Clinical utilization of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. J. Med. Genet.2014; 51:553–562.

Handyside A.H. Clinical evaluation of preimplantation genetic diagnosis. Prenat. Diagn.1998;18:1345-1348.

Wells D., Sherlock J.K.Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat. Diagn. 1998;18:1389-1401.

Stern HJ. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential. J. Clin. Med.2014; 3:280-309.

Munné S., Magli C., Bahce M., Fung J., Legator M., Morrison L, Cohert J., Gianaroli L. Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions

and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat. Diagn. 1998; 18:1459-1466.

Carrera M., Boada M., De la Iglesia C., Barri P.N., Veiga A. Análisis citogenético en embriones preimplantacionales humanos. Prog. Diagn. Prenat. 1999; 11(1):9-19.

Ulli H., Weier G., Fung J., Dandekar P., Hyun W., Pedersen R.A. Spectral imaging in preconception/preimplantation genetic diagnosis (PGD) of aneuploidy: Multicolor, multichromosome screening of single cells. J. Assist. Reprod. Genet. 1997; 55:150-159.

Munné S., Márquez C., Janish C. Use of spectral image analysis for chromosome enumeration in polar bodies, oocytes and metaphase-stage blastomeres. J. Assist. Reprod. Genet.1997; 14:459-464.

Wells D., Sherlock J.K., Handyside A., Adinolfi M., Delhanty J. Whole genome amplification, quantitative fluorescent PCR, and comparative genomic hybridization (CGH) in single cell.

J. Assist. Reprod. Genet.1997; 14:479-87.

Rodríguez-Santiago B., Armengol L. Tecnologías de secuenciación de nueva generación en diagnóstico genético pre- y postnatal. Diagn. Prenat. 2012; 23(2):56-66.

Evans M.I., Johnson M.P., Holzgreve W. Early amniocentesis: What exactly does it mean?. J. Reprod. Med. 1994; 39(2):77- 78.

Brumfield C.G., Lin S., Conner W., Cosper P., Davis R.O., Owen J. Pregnancy outcome following genetic amniocentesis at 11-14 versus 16-19 weeks gestation. Obstet. Gynecol.1996;

(1): 114-118.

Johnson J.M., Wilson R.D., Winsor E.J., Singer J., Dansereau J., Kalousek D.K. The Early Amniocentesis Study: A randomized clinical trial of early amniocentesis versus midtrimester

amniocentesis. Fetal. Diagn. Ther.1996; 11:85-93.

Eiben B., Hammans W., Hansen S., Trawicki W., Osthelder B., Stelzer A., Jaspers K.D., Goebel R. On the complication risk of Early Amniocentesis versus Standard Amniocentesis. Fetal. Diagn. Ther. 1997;12: 140-144.

Sundberg K., Bang J., Smidt-Jensen S., Brocks V., Lundsteen C., Parner J., Keiding N., Philip J. Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus

sampling. Lancet.1997; 350:697-703.

Nicolaides K.H., Brizot M.L, Patel F, Snijders RJ. Comparison of Chorion Villus Sampling and Early Amniocentesis for karyotyping in 1492 singleton pregnancies. Fetal. Diagn.

Ther.1996; 11:9-15.

Cederholm M., Axelsson O. A prospective comparative study on transabdominal chorionic villus sampling and amniocentesis performed at 10-13 weeks gestation. Prenat. Diagn.1997;

(4):311-317.

Daniel A., NG A., Kuah K.B., Reina S., Malafiej P. A study of early amniocentesis for prenatal cytogenetic diagnosis. Prenat. Diagn.1998; 18(1):21-28.

Tharmaratnam S., Sadek S., Steele E.K., Harper M.A., Stewart F.J., Nevin J., Nevin N.C., Doman J.C.Early amniocentesis: Effect of removing a reduced volume of amniotic fluid on

pregnancy outcome. Prenat. Diagn. 1998; 18:773-778.

Rezende J. Obstetrícia. 6a Edição. Editora Guanabara Koogan. Rio de Janeiro.1992.

Bevis D.C.A. The antenatal prediction of hemolytic disease of the newborn. Lancet. 1956;1:395.

Jacobson C.B., Barter R.H. Intrauterine diagnosis and management of genetic defects. Am. J. Obstet. Gynecol. 1967; 99:796.

Valenti C., Schutta E.J., Kehaty T. Prenatal diagnosis of Down’s syndrome. Lancet.1968; 2:220.

Nadler H.L. Antenatal detection of hereditary disorders. Pediatrics. 1998; 42:912.

Nadler H.L., Gerbie A.B. Role of amniocentesis in the intrauterine detection of genetic disorders. N. Engl. J. Med.1970; 282:596.

Littlefield J.W. The pregnancy at risk for a genetic disorder. N. Engl. J. Med.1970; 282:627.

Carrera J.M. Diagnóstico Prenatal: Genética. Ecografía. Bioquímica y Medicina Fetal. Salvat Editores. Barcelona. 1987.

Rosas A. Fisiologia do Sistema Amniótico. In: Delascio D., Guariente A. obstetrícia. Ginecologia. Neonatologia. Sarvier. São Paulo. 1984.

Elejalde B.R., de Elejalde M.M., Acuna J.A., Thelen D., Trujillo C., Karrmann M. Prospective study of amniocentesis performed between weeks 9 and 16 of gestation: Its feasibility, risks, complications and use in early genetic prenatal diagnosis. Am. J. Med. Genet.1990; 35:188-196.

Tejada M.l. Citogenética del líquido amniótico. Posibilidades técnicas, eficiencia y aspectos controvertidos. Prog. Diagn. Prenat. 1994; 6(2):105-118.

Evans M.I., Drugan A., Koppitch F.C., Zador I.E., Sacks A.J., Sokol R.J. Genetic diagnosis in the first trimester: The norm for the 1990s. Am. J. Obstet. Gynecol. 1989, 160:1332-1339.

Stripparo L, Buscaglia M., Longatti L, Ghisoni L, Dambrosio F., Guemeri S., Rosella F., Lituania M., Cordones M., De Biasio P., Passamonti U., Gimelli G., Cuoco C. Genetic amniocentesis:

cases performed before the sixteenth week of gestation. Prenat. Diagn.1990; 10: 359-364.

Rebello M.T., Gray C.T., Rooney D.E., Smith J.H., Hackett G.A., Loeffler F.E., Horwell D.H., Beard R.W., Coleman D.V. Cytogenetic studies of amniotic fluid taken before the 15th week of pregnancy for earlier prenatal. Prenat. Diagn.1991; 11:35-40.

Bauk F., Morón A., Novo N., Juliano E., Rodrigues L, Kulay Jr. Estudo comparativo das dosagens de sódio, potássio, uréia, creatinina e ácido úrico no líquido amniótico entre 15-20 semanas e 38-42 semanas. Rev. Ass. Med. Brasil. 1996;42(1):7-10.

Saito M., Silva L.A., Isfer E.U. Biologia do líquido amniótico. Parte II. In: Isfer E.V., Sanchez R.C., Saito M. Medicina Fetal. Diagnóstico Pré-natal e Conduta. Editora Revinter. Rio de Janeiro,

Torricelli F., Brizzi L., Bernabei P., Gheri G., Di Lollo S., Nutini L, Lisi E., Di Tommaso M., Cariati E. Identification of hematopoietic progenitor cells in human amniotic fluid before the 12th

week of gestation. It. J. Anat. Embryol. 1993; 98(2):119-126.

Hoehn H., Bryant E.M., Karp LE., Martin G.M.Cultivated cell from diagnostic amniocentesis in second trimester pregnancies. I. Clonal morphology and growth potential. Pediat. Res.1974; 8:746-754.

Schrage R., Bögelspacher H., Wurster K. Amniotic fluid cells in the second trimester of pregnancy. Acta. Cytol.1982; 26:407.

Gosden C. Amniotic fluid cell types and culture. Britsh. Medical. Bulletin.1983; 39(4):348-354.

Bernal L.M. Evaluación de la amniocentesis precoz en una institución brasileña de diagnóstico prenatal. NOVA.2011; 10(17):11-24.

Wilson R.D. Early Amniocentesis: A Clinical Review. Prenat. Diagn.1995;15:1259-1273.

Reece E.A. Amniocentese genética precoce e nos trimestres intermediarios. Segurança e resultados. In: Clínicas Obstétricas e Ginecológicas da América do Norte. Diagnóstico e Tratamento Fetal. Reece E.A. Interlivros. Rio de Janeiro. 1997; 1.

Crespigny L, Robinson H.P., Ngu A. Pain with amniocentesis and transabdominal CVS. Aust. N. Z. Obstet Gynecol. 1990; 30(4):308-309.

Dorfer M., Hausler M., Kainer F. Psychological aspects of pain experience in amniocentesis. Wien. Klin. Wochenschr. 1998; 110(18):642-645.

Simpson N., Dallaire L, Miller J., Siminovich L, Hammnerton J., Miller J., McKeen C. Prenatal diagnosis of genetic disease of Canada; report of a collaborative study. Can. Med. Ass. J. 1976; 115:739-745.

Aula P., Karjalinen O., Terano N., Vaara L, Seppala M. Safety and accuracy of midtrimester amniocentesis for prenatal diagnosis of genetic disorders. Ann. Clin. Res.1979;11: 156-159.

Harrison R., Campbell S., Craft I. Risks of fetomaternal hemorrhage resulting from amniocentesis with and without placental localization. Obstet. Gynecol.1975; 46:389.

Mennuti M., Brummond W., Criombleholme W., Shwartz R. Fetal maternal bleeding associated with genetic amniocentesis. Obstet. Gynecol.1980; 55:48.

Hills J., Reindollar R., Mc Dondungh P. Ultrasonic placenta localization in relation to spontaneus abortion after midtrimester amniocentesis. Prenat. Diagn.1982; 2(4):289-292.

Crane J., Kopta M. Genetic amniocentesis: Impact of placental position upon the risk of pregnancy loss. Am. J. Obstet Gynecol.1984; 150:813-816.

Bombard A., Powers J., Carter S. Procedure related fetal losses in transplacental versus nontransplacental genetic amniocentesis. Am. J. Obstet. Gynecol. 1995; 172:868-872.

Zolnierczyk P., Raczynski A., Lisawa J., Chazan B. Early amniocentesis transplacental needle passage safer than nontransplacental?. Acta. Obstet. Gynecol. Scand. Supplement. 1997;

(167):51.

Tharmaratnam S., Sadek S., Steele E.K., Harper M.A., Nevin N.C., Doman J.C. Transplacental early amniocentesis and pregnancy outcome. Br. J. Obstet. Gynaecol.1998; 105(2):228-230.

Hahneman N., Mohr J. Genetic diagnosis in the embryo by means of biopsy from extra-embryonic membrane. Bull. Eur. Soc. Hum. Genet. 1968; 2:23-29.

Gollop T.R., Naccache N.F., De Campos I.M., Pieri P.C. Amostra de Vilo Corial: 1290 casos. Rev. Bras. Ginecol. Obstet. 1993; 15(2):84-87.

Kalousek D.K., Dill J.F., Pantzar T., McGillivray B.C., Young S.L, Wilson R.D. Confined chrorionic mosaicism in prenatal diagnosis. Hum. Genet.1987; 77:163-167.

Leschot N.J., Schuring-Blom G.H., Van Prooijen-Knegt A.C., Verjaal M., Hansson K., Wolf H., Kanhai H.H., Van Vugt J.M., Christiaens G.C. The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells. Prenat. Diagn.1996; 16:705-712.

Tabor A., Alfirevik Z. Update on procedure-related risks for prenatal diagnostic techniques. Fetal. Diagn. Ther.2010; 27:1-7.

Bui T.H., Iselius L., Lindsten J. European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cell in amniotic fluid cell cultures. Prenat

Diagn., (Special issue). 1984; 4:145-162.

Hsu L.Y.F., Yu M.T, Richkind K.E., Van Dyke D.L, Crandall B.F., Saxe D.F., Khodr G.S., Mennuti M., Stetten G., Miller W.A., Priest J.H. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study. Prenat. Diagn.1996; 16:1-28;

Verma R., Kleyman S., Conte R. Chromosomal mosaicisms during prenatal diagnosis. Gynecol. Obstet. Invest.1998; 45:12-15.

Lippmann A., Tomkins D.J., Shine J. Canadian multicenter randomized clinical trial of chorionic villus sampling and amniocentesis (final report). On behalf of the Canadian collaborative CVS-amniocentesis clinical trial group. Prenat Diagn.1992; 12:385-476.

Sousa A., Anderson J., Cerveira I., Castedo S., Pereira S. Chorionic Villus Sampling in Hospital S. Teotónio Fetal Medicine Unit. Acta. Obstet. Ginecol. Port.2012; 6(1):8-12.

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