Fetal chromosomal abnormalities: Antenatal screening and diagnosis

American Family Physician

Volumn 79, Issue 2, 2009, Pages

  Anderson, Cynthia L ^a   Brown, Charles E L ^a  

^a UTMB   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; PROTEIN A; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

AMNIOCENTESIS; CHORION VILLUS; CHROMOSOME ABERRATION; ECHOGRAPHY; FEMALE; HUMAN; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANT WOMAN; PRENATAL PERIOD; PRENATAL SCREENING; REVIEW; ARTICLE; CHORION VILLUS SAMPLING; FETUS ECHOGRAPHY; METHODOLOGY; PREGNANCY; PRENATAL DEVELOPMENT; PRENATAL DIAGNOSIS; SECOND TRIMESTER PREGNANCY;

AMNIOCENTESIS; CHORIONIC VILLI SAMPLING; CHROMOSOME ABERRATIONS; FEMALE; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 60249093298     PISSN: 0002838X     EISSN: 0002838X     Source Type: Journal    
DOI: None     Document Type: Review

References (52)

1. Copel JA, Bahado-Singh RO. Prenatal screening for Down's syndrome - a search for the family's values. N Engl J Med. 1999;341(7):521-522. (Pubitemid 29372893)
2. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol. 1984;148(7):886-894. (Pubitemid 14125705)
3. Cunningham FG, Leveno KL, Bloom SL, Hauth JC, Gilstrap LC III, Wenstrom KD. Williams Obstetrics. 22nd ed. New York, NY: McGraw-Hill; 2005:328-330.
4. Jenkins TM, Wapner RJ. Prenatal diagnosis of congenital disorders. In: Creasy RK, Resnik R, eds. Maternal-Fetal Medicine: Principles and Practice. 5th ed. Philadelphia, Pa.: W. B. Saunders, 2004: 263-269.
5. ACOG Committee on Practice Bulletins. ACOG practice bulletin: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109(1):217-227.
6. Palomaki GE, Steinort K, Knight GJ, Haddow JE. Comparing three screening strategies for combining first- and second-trimester Down syndrome markers. Obstet Gynecol. 2006;107(2 pt 1):367-375. (Pubitemid 43755668)
7. Rhoads GG, Jackson LG, Schlesselman SE, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med. 1989;320(10):609-617. (Pubitemid 19072465)
8. Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2003;(3):CD003252.
9. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet. 1986;1(8493):1287-1293. (Pubitemid 16114047)
10. Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol. 2006;108(3 pt 1):612-616. (Pubitemid 44337103)
11. Shipp TD, Benacerraf BR. Second trimester ultrasound screening for chromosomal abnormalities. Prenat Diagn. 2002;22(4):296-307. (Pubitemid 34498766)
12. Snijders RJ, Thom EA, Zachary JM, et al. First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol. 2002;19(4):353-359. (Pubitemid 34592131)
13. Comstock C, Malone FD, Ball RH, et al., for the FASTER Research Consortium. Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester screening? Am J Obstet Gynecol. 2006;195(3):843-847. (Pubitemid 44292130)
14. Saltvedt S, Almström H, Kublickas M, et al. Screening for Down syndrome based on maternal age or fetal nuchal translucency: a randomized controlled trial in 39,572 pregnancies. Ultrasound Obstet Gynecol. 2005;25(6):537-545. (Pubitemid 40835455)
15. Bahado-Singh RO, Wapner R, Thom E, et al., for the First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening Study Group. Elevated first-trimester nuchal translucency increases the risk of congenital heart defects. Am J Obstet Gynecol. 2005;192(5):1357-1361.
16. Hyett J, Perdu M, Charland G, Snijders R, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ. 1999;318(7176):81-85. (Pubitemid 29188923)
17. Souka AP, Von Kaisenberg C, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol. 2005;192(4):1005-1021. (Pubitemid 40487772)
18. Makrydimas G, Sotiriadis A, Huggon IC, et al. Nuchal translucency and fetal cardiac defects: A pooled analysis of major fetal echocardiography centers. Am J Obstet Gynecol. 2005;192(1):89-95. (Pubitemid 40164225)
19. Wapner R, Thom E, Simpson JL, et al., for the 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(15):1405-1413.
20. Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191(1):45-67. (Pubitemid 39077955)
21. Malone FD, Berkowitz RL, Canick JA, D'Alton ME. First-trimester screening for aneuploidy: research or standard of care? Am J Obstet Gynecol. 2000;182(3):490-496. (Pubitemid 30207300)
22. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 1999;13(4):231-237. (Pubitemid 29248329)
23. Dugoff L, Hobbins JC, Malone FD, et al. First-trimester maternal serum trations and nuchal translucency are associated with obstetric complications: a population-based screening study (the FASTER Trial). Am J Obstet Gynecol. 2004;191(4):1446-1451.
24. Smith GC, Shah I, Crossley JA, et al. Pregnancy-associated plasma protein A and alpha-fetoprotein and prediction of adverse perinatal outcome. Obstet Gynecol. 2006;107(1):161-166. (Pubitemid 43755518)
25. American College of Obstetricians and Gynecologists. ACOG issues position on first-trimester screening methods. http://www.acog.org/from-home/ publications/press-releases/nr06-30-04.cfm. Accessed July 18, 2008.
26. Cheng EY, Luthy DA, Zebelman AM, Williams MA, Lieppman RE, Hickok DE. A prospective evaluation of a second-trimester screening test for fetal Down syndrome using maternal serum alpha-fetoprotein, hCG, and unconjugated estriol. Obstet Gynecol. 1993;81(1):72-77. (Pubitemid 23041706)
27. Spencer K, Wallace EM, Ritoe S. Second-trimester dimeric inhibin-A in Down's syndrome screening. Prenat Diagn. 1996;16(12):1101-1110. (Pubitemid 27007630)
28. Dugoff L, Hobbins JC, Malone FD, et al., for the FASTER Trial Research Consortium. Quad screen as a predictor of adverse pregnancy outcome. Obstet Gynecol. 2005;106(2):260-267.
29. Agency for Healthcare Research and Quality. Screening for Down syndrome. http://www.ahrq.gov/clinic/2ndcps/downsyn.pdf. Accessed July 18, 2008.
30. Agency for Healthcare Research and Quality. Screening for neural tube defects - including folic acid/folate prophylaxis. http://www.ahrq.gov/clinic/ 2ndcps/nrltube.pdf. Accessed July 18, 2008.
31. Yeo L, Vintzileos AM. The use of genetic sonography to reduce the need for amniocentesis in women at high-risk for Down syndrome. Semin Perinatol. 2003;27(2):152-159. (Pubitemid 36547482)
32. Nicolaides KH, Snijders RJ, Gosden CM, Berry C, Campbell S. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet. 1992;340(8821):704-707.
33. Schluter PJ, Pritchard G. Mid trimester sonographic findings for the prediction of Down syndrome in a sonographically screened population. Am J Obstet Gynecol. 2005;192(1):10-16. (Pubitemid 40164212)
34. Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol. 1996;87(6):948-952. (Pubitemid 26159390)
35. Farina A, Malone FD, Bianchi DW. Fetal sonographic findings: analysis of the most frequent patterns and their specificity of association. Am J Med Genet. 2000;91(5):331-339. (Pubitemid 30193926)
36. Rizzo N, Farina A, Pilu G, et al. Pattern analysis for ultrasound anomalies in fetuses with normal karyotype. Am J Perinatol. 1999;16(10):537-542. (Pubitemid 30418252)
37. Benacerraf BR. The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Semin Perinatol. 2005;29(6):386-394.
38. Benn PA, Kaminsky LM, Ying J, Borgida AF, Egan JF. Combined second-trimester biochemical and ultrasound screening for Down syndrome. Obstet Gynecol. 2002;100(6):1168-1176. (Pubitemid 35449182)
39. Saltvedt S, Almström H, Kublickas M, Valentin L, Grunewalk C. Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation-a randomized controlled trial in 39,572 pregnancies. BJOG. 2006;113(6):664-674. (Pubitemid 43781697)
40. Crane JP, LeFevre ML, Winborn RC, et al. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. The RADIUS Study Group. Am J Obstet Gynecol. 1994;171(2):392-399. (Pubitemid 24279223)
41. Agency for Healthcare Research and Quality. Screening ultrasonography in pregnancy. http://www.ahrq.gov/clinic/2ndcps/ultrason.pdf. Accessed July 18, 2008.
42. Smith-Bindman R, Hosmer W, Feldstein V, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA. 2001;285(8):1044-1055. (Pubitemid 32176418)
43. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med. 1999;341(7):461-467. (Pubitemid 29372885)
44. Routine prenatal care. Eleventh Edition. Institute for Clinical Systems Improvement. August 2007. http://www.icsi.org/prenatal-care-4/prenatal-care- routine-full-version-2.html. Accessed July 17, 2008
45. Malone FD, Canick JA, Ball RH, et al., for the First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353(19):2001-2011.
46. Bishop AJ, Marteau TM, Armstrong D, et al. Women and health care professionals' preferences for Down's Syndrome screening tests: a conjoint analysis study. BJOG. 2004;111(8):775-779. (Pubitemid 39061498)
47. Ledbetter DH, Zachary JM, Simpson JL. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn. 1992;12(5):317-345.
48. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998;352(9125):343-346.
49. Milunsky A, Milunsky J. Genetic counseling: preconception, prenatal, and perinatal. In: Milunsky A, ed. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. 4th ed. Baltimore, Md.: Johns Hopkins University Press; 1998:26.
50. Wald NJ, Rodec C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen. 2003;10(2):56-104. (Pubitemid 36734906)
51. Wald NJ, Rodeck C, Hackshaw AK, Rudnicka A. SURUSS in perspective. BJOG. 2004;111(6):521-531. (Pubitemid 38746234)
52. National Collaborating Centre for Women's and Children's health. Antenatal care: routine care for the healthy pregnant woman. http://www.nice.org.uk/guidance/CG62/guidance/pdf. Accessed October 21, 2008.