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Chapter 2 - Prenatal Genetic Testing

from Part I - ANTEPARTUM

Published online by Cambridge University Press:  07 May 2010

John Patrick O'Grady ,
Martin L. Gimovsky ,
Lucy A. Bayer-Zwirello  and
Kevin Giordano
By
Gabriel M. Cohn
John Patrick O'Grady
Affiliation:
Tufts University, Massachusetts
Gabriel M. Cohn
Affiliation:
Assistant Professor Department of Obstetrics and Gynecology, Tufts University School of Medicine Boston
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Summary

The aim for genetic services is to provide a maximum of genetic diagnostic capabilities for any given pregnancy, with a minimum of fetal risk. This chapter focuses on the procedures and techniques currently available to clinicians to evaluate genetic disorders. Amniocentesis was first introduced in the 1880s as a treatment for hydramnios. Genetic amniocentesis usually is performed after 15 completed weeks of gestation. After ultrasonic study to confirm dates, fetal viability, fetal number, fetal anatomic survey and placentation, the patient is requested to empty her bladder. Prior to the attempt at transcervical biopsy (TC-CVS), an ultrasonic scan is performed to evaluate fetal viability, fetal number, placentation, and dating by crown-rump length (CRL) and gestational sac size. Complications associated with CVS include vaginal bleeding, amniotic fluid leakage, infection, fetalmaternal transfusion, teratogenic effects, and fetal loss. The future for prenatal genetics is clearly one of high technology and continue.

Keywords

fetal lossgenetic amniocentesisgenetic disordersprenatal genetic testingultrasonic scantranscervical biopsymaternal complicationspregnancy
Type
Chapter
Information
Operative Obstetrics , pp. 22 - 43
Publisher: Cambridge University Press
Print publication year: 2008

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References

McKusik, VA: A 40-year prospective on the evolution of a medical specialty from a basic science. JAMA 1993; 270:2351–2356.Google Scholar
Baird, PA, Anderson, TW, Newcombe, HB, Lowry, B: Genetic disorders in children and young adults: A population study. Am J Hum Genet 1988; 42:677–693.Google Scholar
Hall, JG, Powers, EK, McIlvaine, RT, Ean, VH: The frequency and financial burden of genetic disease in a pediatric hospital. Am J Med Genet 1978; 1:417–436.CrossRefGoogle Scholar
Reich, E, Wallace, S, Ben-Yishay, M, Schlesinger, S, Marks, J, Bloom, A: Genetic disease in a pediatric hospital. Am J Hum Genet 1972; 26: 71A.Google Scholar
Emery, AEH, Rimoin, DL (eds): Principles and Practice of Medical Genetics, Second Edition. Edinburgh: Churchill Livingstone, 1990.Google Scholar
Nevin NC: Trends in prevalence of congenital abnormalities. In: Drife, JO, Donnai, D (eds): Antenatal Diagnosis of Fetal Abnormalities. London: Springer-Verlag, 1991; 3–11.CrossRefGoogle Scholar
Liston R, Sawchuck D, Young D, Society of Obstetrics andGynaecologists of Canada; British Columbia Perinatal Health Program: Fetal health surveillance: Antepartum and intrapartum, consensus guideline. J Obstet Gynaecol Can 2007; 29(9 Suppl 4):53–56.
Sekizawa A, Purwosunu Y, Matsuoka R, Koide K et al: Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood. J Obstet Gynaecol Res 2007; 33(6):747–764.
Williams C: Dilemmas in fetal medicine: Premature application of technology or responding to women's choice? Social Health Iiin 2006; 28(1):1–20.
Mennuti MT: Genetic screening in reproductive health care. Clin Obstet Gynecol 2008; 51(1):3–23.
Lambl, D: Ein seltener fall von hydramnios. Zent Fur Gynakol 1881; 5:329–334.Google Scholar
Schatz, F: Eine besondere Art von einseitiger polyhydramnie mit anderseitiger oligohydramnie bei einagueu Zwillingen. Arch Gynakol 1882; 19:329–369.CrossRefGoogle Scholar
Prochownick, L: Beitrage zur lehre vom fruchtwasser und seiner entsellung. Arch Gynakol 1887; 11:305–345.
Henkel, M: Akutes hydramnion, leberkompression, enges becken, punkition des hydramnion. Zenrt Fur Gynakol 1919; 43:841–846.Google Scholar
Fuchs, F, Riis, P: Antenatal sex determination. Nature. 1956; 117:330.CrossRefGoogle Scholar
Makowsi, EL, Perm, K, Kaiser, IH: Detection of sex of fetus by the incidence of sex chromatin in nuclei of cells in amniotic fluid. Science 1956; 123:542–543.CrossRefGoogle Scholar
Shettles, LB: Nuclear morphology of cells in human amniotic fluid in relation to sex of infant. Am J Obstet Gynecol 1956; 71:834–838.CrossRefGoogle ScholarPubMed
Bevis, DCA: The antenatal prediction of haemolytic disease of the newborn. Lancet 1952; 1:395–398.CrossRefGoogle ScholarPubMed
Riis, P, Fuchs, F: Antenatal determination of foetal sex in prevention of hereditary disease. Lancet 1960; ii:180–182.CrossRefGoogle Scholar
Serr, DM, Margolis, E: Diagnosis of fetal sex in a sex-linked hereditary disorder. Am J Obstet Gynecol 1964; 88:230–232.CrossRefGoogle Scholar
Steele, MW, Berg, WR, , JR: Chromosome analysis of human amniotic fluid cells. Lancet. 1966; 1:383–385.CrossRefGoogle ScholarPubMed
Jacobson, CB, Barter, RN: Intrauterine diagnosis and management of genetic defects. Am J Obstet Gynecol 1967; 99:795–807.CrossRefGoogle ScholarPubMed
Valenti, C, Schutta, EJ, Kehaty, T: Prenatal diagnosis of Down's syndrome. Lancet 1968; 2:220.CrossRefGoogle ScholarPubMed
Nadler, HL: Antenatal detection of hereditary disorders. Pediatrics 1968; 42:912–918.Google ScholarPubMed
Nadler, HL, Gerbie, AB: Role of amniocentesis in the intrauterine detection of genetic disorders. N Engl J Med 1970; 282:596–599.PubMed
Johnson, A, Gomilow, L: Genetic amniocentesis at 14 weeks of less. Clin Obstet Gynecol 1988; 31:345–352.CrossRefGoogle ScholarPubMed
Mohr, J: Foetal genetic diagnosis: development of techniques for early sampling of foetal cells. Acta Pathol Microbiol Scand 1968; 73:73–77.CrossRefGoogle ScholarPubMed
Hahnemann, N: Early prenatal diagnosis; a study of biopsy techniques and cell culturing from extraembryonic membranes. Clin Genet 1974; 6:294–306.CrossRefGoogle ScholarPubMed
Kullander, S, Sandahl, B: Fetal chromosome analysis after transcervical placental biopsies during early pregnancy. Acta Obstet Gynecol Scand 1973; 52:355–359.CrossRefGoogle ScholarPubMed
Department of Obstetrics and Gynecology, Tietung Hospital of Anshan Iron and Steel Co. Anshan, China: Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy. Chinese Med J 1975; 1:117–126.
Horwell, DH, Loeffler, FE, Coleman, DV: Assessment of a transcervical aspiration technique for chorionic villus biopsy in the first trimester of pregnancy. Br J Obset Gynaecol 1983; 90:196–198.CrossRefGoogle ScholarPubMed
Liu, DT, Mitchell, J, Johnson, J, Wass, DM: Trophoblast sampling by blind transcervical aspiration. Br J Obstet Gynaecol 1983; 90:1119–1123.CrossRefGoogle ScholarPubMed
Rhine, SA, Cain, JL, Cleary, RE, Palmer, CG, Thompson, JF: Prenatal sex detection with endocervical smears: Successful results utilizing Y-body fluorescence. Am J Obstet Gynecol 1975; 122: 155–160.CrossRefGoogle Scholar
Rhine, SA, Palmer, CG, Thompson, JF: A simple alternative to amniocentesis for first-trimester prenatal diagnosis. Birth Defects 1977; 12:231–247.Google Scholar
Goldberg, MF, Chen, ATL, Ahn, YW, Reidy, JA: First-trimester fetal chromosomal diagnosis using endocervical lavage: A negative evaluation. Am J Obstet Gynecol 1980; 138:436–439.CrossRefGoogle ScholarPubMed
Kazy, Z, Rozovsky, IS, Bahkarev, VA: Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders. Prenat Diagn 1982; 2:39–40.CrossRefGoogle Scholar
Ward, RHT, Modell, B, Petrou, M, Karagozlu, F, Douratsos, E: Method of sampling chorionic villi in the first trimester of pregnancy under guidance of real-time ultrasound. Br Med J 1983; 286:1542–1544.CrossRefGoogle ScholarPubMed
Simoni, G, Brambati, B, Daesino, C, et al: Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983; 63:349–357.CrossRefGoogle ScholarPubMed
Smidt-Jensen, S, Hahnemann, N, Jensen, PKA, Therkelsen, AJ: Experience with transabdominal fine-needle biopsy from chorionic villi in the first trimester – an alternative to amniocentesis. Clin Genet 1984; 26:272–274.CrossRefGoogle Scholar
Jeanty, P, Rodesch, F, Romero, R, Venus, I, Hobbins, JC: How to improve your amniocentesis technique. Am J Obstet Gynecol 1983; 146:593–596.CrossRefGoogle ScholarPubMed
Benn, PA, Hsu, LYF: Maternal cell contamination of amniotic fluid cell cultures: Results of a US nationwide survey. Am J Med Genet 1983; 15:297–305.CrossRefGoogle Scholar
Verp, MS, Gerbie, AB: Amniocentesis for prenatal diagnosis. Clin Obstet Gynecol 1981; 24:1007–1020.CrossRefGoogle ScholarPubMed
Turnbull, AC, MacKenezie, IZ: Second trimester amniocentesis and termination of pregnancy. Br Med Bull 1983; 39:315–321.CrossRefGoogle ScholarPubMed
Finberg, HJ, Frigoletto, FD: Sonographic demonstration of uterine contraction during amniocentesis. Am J Obstet Gynecol 1981; 9:740–742.CrossRefGoogle Scholar
Platt, LD, DeVore, GR, Gimovsky, ML: Failed amniocentesis: The role of membrane tenting. Am J Obstet Gynecol 1982; 144:479–480.CrossRefGoogle ScholarPubMed
Alfirevic Z, Sundberg K, Brigham S: Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 2003; 3, CD 003252.
Wilson, RD, Kendrick, V, Wittmann, BK, McGillivray, BC: Risk of spontaneous abortion in ultrasonically normal pregnancies. Lancet 1984; 2:920–921.CrossRefGoogle ScholarPubMed
Stein, ZA: A woman's age: Child bearing and child rearing. Am J Epidemiol 1985; 327–342.CrossRefGoogle Scholar
Gilmore, DH, McNay, MB: Spontaneous fetal loss rate in early pregnancy. Lancet 1985; 1:107.CrossRefGoogle ScholarPubMed
MacKenzie, WE, Holmes, DS, Newton, JR: Spontaneous abortion rate in ultrasonographically viable pregnancies. Obstet Gynecol 1988; 71:81–83.Google ScholarPubMed
Read, AP, Donnai, D, Harrs, R, Donnai, P: Comparison of pregnancy outcome after amniocentesis for previous neural tube defect or raised maternal serum alpha fetoprotein. Br J Obstet Gynaecol 1980; 87:372–376.CrossRefGoogle ScholarPubMed
Sant-Cassia, LJ, MacPherson, MBA, Tyack, AJ: Midtrimester amniocentesis: Is it safe? A single-centre controlled prospective study of 517 consecutive amniocentesis. Br J Obstet Gynaecol 1984; 736–744.CrossRefGoogle Scholar
NICHD National Registry for Amniocentesis Study Group: Midtrimester amniocentesis for prenatal diagnosis-safety and accuracy. JAMA 1976; 239:1471–1476.
Simpson NE, Dallaire L, Miller JR et al: Prenatal diagnosis of genetic disease in Canada: Report of a collaborative study. Can Med Assoc J 1976; 115:739–746.
Working Party on Amniocentesis: An assessment of hazards of amniocentesis. Br J Obstet Gynaecol. 1978; 85(Suppl):1–41.
Tabor, A, Philip, J, Madser, M, Bang, J, Obel, EB, Norgaard-Pedersen, B: Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986; 1:1287–1289.CrossRefGoogle ScholarPubMed
Mujezin Ovic F, Alfirevic Z: Procedure-related complications of amniocentesis and chorionic villus sampling: A systems review. Obstet Gynecol 2007 Sept 110(3):687–694.
American College of Obstetricians and Gyne-cologists: Invasive prenatal testing for aneuploidy Practice Bulletin Number 88, December 2007.Washington, DC: American College of Obstetricians and Gynecologists.
Zipursky, A, Pollock, J, Chown, B, Israes, LG: Transplacental fetal hemorrhage after placental injury during delivery amniocentesis. Lancet 1963; 2:493–498.CrossRefGoogle ScholarPubMed
Mennuti, MT, DiGaetano, A, McDonnell, A, Cohen, AW, Liston, RM: Fetal-maternal bleeding associated with genetic amniocentesis. Obstet Gynecol 1983; 62:26–30.Google ScholarPubMed
Hill, LM, Platt, LD, Kellogg, B: Rh-sensitization after genetic amniocentesis. Obstet Gynecol 1980; 56:459–461.Google ScholarPubMed
Khalil, MA, Tabsh, K, Lobherz, TB, et al: Risks of prophylactic anti-D immunoglobulin after second-trimester amniocentesis. Am J Obstet Gynecol. 1984; 149:225–226.Google Scholar
Golbus, MS, Stephens, JD, Cann, HM, et al: Rh-isoimmunization following genetic amniocentesis. Prenat Diagn 1982; 2:149–156.CrossRefGoogle ScholarPubMed
Tabor, A, Jerne, D, Bok, JE: Incidence of rhesus immunization after genetic amniocentesis. Br Med J 1986; 293:533–536.CrossRefGoogle ScholarPubMed
American College of Obstetricians and Gyneco-logists: Prevention of D Isoimmunization. Practice Bulletin. Number 4, May 1999. Washington DC: American College of Obstetricians and Gynecologists.
Karp, , Schiller, HS: Meconium staining of amniotic fluid at mid-trimester amniocentesis. Obstet Gynecol 1977; 50:47s–49s.Google Scholar
Cruikshank, DP, Varner, MW, Cruikshank, JE, et al: Midtrimester amniocentesis: an analysis of 923 cases with neonatal follow-up. Am J Obstet Gynecol 1983; 146:204–211.CrossRefGoogle ScholarPubMed
Hankins, GD, Rowe, J, Quirk, JG, et al: Significance of brown and/or green amniotic fluid at the time of second-trimester genetic amniocentesis. Obstet Gynecol 1984; 64:353–358.Google ScholarPubMed
Dacus, JV, Wilroy, RS, Summit, RL, et al: Genetic amniocentesis: A twelve years' experience. Am J Med Genet 1985; 20:443–452.CrossRefGoogle ScholarPubMed
Zorn, EM, Hanson, FW, Greve, LC, et al: Analysis of the significance of discolored amiotic fluid detected at mid-trimester amniocentesis. Am J Obstet Gynecol 1986; 154:1234–1240.CrossRefGoogle Scholar
Milunsky, A, Atkins, L: Prenatal diagnosis of genetic disorders: An analysis of experience with 600 cases. JAMA 1974; 230:232–235.CrossRefGoogle ScholarPubMed
Kerenyi, TD, Walker, B: The preventability of “bloody taps” in second-trimester amniocentesis by ultrasound scanning. Obstet Gynecol 1977; 50:61–64.Google ScholarPubMed
Crandall, BF, Howard, J, Lebhertz, TB, et al: Follow up of 2000 second-timester amniocenteses. Obstet Gynecol 1980; 56:625–628.Google ScholarPubMed
Benaceraff, BR, Frigoletto, FD: Amniocentesis under continuous ultrasound guidance: A series of 232 cases. Obstet Gynecol 1983; 62:760–763.Google Scholar
McDicken, WN, Anderson, T, MacKenzie, WE, et al: Ultrasonic identification of needle tips in amniocentesis. Lancet 1984; 2:198–199.CrossRefGoogle ScholarPubMed
Romero, R, Jeantly, P, Reece, EA, et al: Sonographically monitored amniocentesis to decrease intraoperative complications. Obstet Gynecol 1985; 65:426–430.Google ScholarPubMed
Williamson, RA, Varner, MW, Grant, SS: Reduction in amniocentesis risks under real-time guide procedure. Obstet Gynecol 1985; 65:751–755.Google ScholarPubMed
Gerbie, AB, Shkolnik, AA: Ultrasound prior to amniocentesis for genetic counseling. Obstet Gynecol 1975; 46:716–719.Google ScholarPubMed
Karp, , Rothwell, R, Conrad, SH, Hoehn, HW, Hickok, : Ultrasonic placental localization and bloody taps in mid-trimester amniocentesis for prenatal diagnosis. Obstet Gynecol 1977; 50:589–593.Google Scholar
Thorp JA, Helfgott AW, King EA, King AA, Minyard AN: Maternal death after second-trimester genetic amniocentesis. Obstet Gynecol 2005; 105(5 Pt 2):1213–1215.
MacLachlan NA: Amniocentesis. In: Brock DJH, Rodeck CH, Ferguson-Smith MA (eds): Prenatal Diagnosis and Screening. Edinburgh: Churchhill Livingstone, 1992; 17.
Simpson, JL, Socol, ML, Aladjem, S, et al: Normal fetal growth despite persistent amniotic fluid leakage after genetic amniocentesis. Prenat Diagn 1981; 1:277–279.CrossRefGoogle ScholarPubMed
Raimer, SS, Raimer, BG: Needle puncture scars from mid-trimester amniocentesis. Arch Dermatol 1984; 120:1360–1362.CrossRefGoogle Scholar
Philip J, Silver RK, Wilson RD, Thom EA et al. for the NICHD EATA Trial Group: Late first trimester invasive prenatal diagnosis: Results of an international randomized trial. Obstet Gynecol 2004; 103(6):1164–1173.
Wapner, RJ, Jackson, L: Chorionic villus sampling. Clin Obstet Gynecol 1988; 31:328–344.CrossRefGoogle ScholarPubMed
Cauqhey 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.
Dalpra, L, Nocera, G, Tibiletti, MG, et al: “Late” chorionic villus sampling: Cytogenetics aspects. Prenat Diagn 1993; 13:239–246.CrossRefGoogle ScholarPubMed
Smidt-Jensen, S, Ludsteen, C, Lind, AM, Dinesen, K, Philip, J:Transabdominal chorionic villus sampling in the second and third trimester of pregnancy: Chromosome quality, reporting time and feto-maternal bleeding. Prenat Diagn 1993; 13: 957–969.CrossRefGoogle ScholarPubMed
Bovicelli, L, Rizzo, N, Montacuti, V, et al: Transabdominal chorionic villus sampling: Analysis of 350 consecutive cases. Prenat Diagn 1988; 8: 495–500.CrossRefGoogle ScholarPubMed
Green, JE, Dorfmann, A, Jones, SL, et al: Chorionic villus sampling: Experience with an initial 940 cases. Obstet Gynecol 1988; 71:208–212.Google ScholarPubMed
Jahoda, MGJ, Pijpers, L, Reuss, A, et al: Evaluation of transcervical chorionic villus sampling with a completed follow-up of 1550 consecutive pregnancies. Prenat Diagn 1989; 9:621–628.CrossRefGoogle ScholarPubMed
Leschot, NJ, Wolf, H, Prooijen-Knejt, AC, et al: Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies. Br J Obstet Gynaecol 1989; 96:663–670.CrossRefGoogle ScholarPubMed
Miny, P, Basaran, S, Pawlowitzki, IH, et al: Validity of cytogenetic analysis from trophoblastic tissue throughout gestation. Am J Med Genet 1989; 33:136–141.CrossRefGoogle Scholar
Brambati, B, Lanzani, A, Tului, L: Transabdominal and transcervical chorionic villus sampling: Efficiency and risk evaluation of 2411 cases. Am J Med Genet 1990; 35:160–164.CrossRefGoogle Scholar
USNICHD Collaborative CVS Group: Transcervical and transabdominal chorionic villus sampling are comparably safe procedures for first-trimester prenatal diagnosis: Preliminary analysis. Am J Hum Genet 1990; 47:A278.
Brambati, B, Terzian, E, Tognoni, G: Randomised clinical trial of transabdominal versus transcervical chorionic villus sampling methods. Prenat Diagn 1991; 11:285–293.CrossRefGoogle ScholarPubMed
Brambati, B, Tului, L, Simoni, G, Travi, M: Prenatal diagnosis at 6 weeks. Lancet 1988; 2: 397.CrossRefGoogle ScholarPubMed
Monni, G, Ibba, RM, Lai, R, Cau, G, Mura, S, Olla, G, et al: Early transabdominal chorionic villus sampling in couples at high genetic risk. Am J Obstet Gynecol 1993; 168:170–173.CrossRefGoogle ScholarPubMed
Brambati B, Tului L: Chorionic villus sampling and amniocentesis: Prenatal diagnosis: Curr Opinion Obstet Gynecol 2005;17(2):197–201.
Wapner RJ: Invasive prenatal diagnostic techniques. Semin Perinatol 2005; 29(6):401–404.
Holzgreve, W, Miny, P, Gerlach, B, Wensterdorp, A, Ablert, D, Horst, J: Benefits of placental biopsy for rapid karyotyping in the second and third trimester (late chorionic villus sampling) in high-risk pregnancies. Am J Obstet Gynecol 1990; 162:1188–192.CrossRefGoogle Scholar
Williams, J III, Medearis, AL, Chu, WH, Kovacs, AD, Kaback, MM: Maternal cell contamination in cultured chorionic villi: Comparison of chromosome Q-polymorphisms derived from villi, fetal skin and maternal lymphocytes. Prenat Diagn 1987; 7:315–322.CrossRefGoogle ScholarPubMed
Roberts, E, Duckett, DP, Lang, CD: Maternal cell contamination in chorionic villus samples assessed by direct preparation and three different culture methods. Prenat Diagn 1988; 8:635–640.CrossRefGoogle Scholar
Wright, DJ, Bradley, BA, Koppitich, FC, Drugan, A, Johnson, M, Evans, MI: Interpretation of chorionic villus sampling laboratory results are just as reliable as amniocentesis. Obstet Gynecol 1989; 74:739–744.Google ScholarPubMed
Ledbetter, DH, Martin, AO, Verlinsky, Y, et al: Cytogenetic results of chorionic villus sampling; high success rate and diagnostic accuracy in the United States collaborative study. Am J Obstet Gynecol 1990; 2:495–501.CrossRefGoogle Scholar
Ledbetter, DH, Zachary, JM, Simpson, JL, et al: Cytogenetics results from the US Collaborative Study on CVS. Prenat Diagn 1992; 12:317– 345.CrossRefGoogle Scholar
Boris, BT, Ch, R, Williamssss, S III: Mosaicism in chorionic villus sampling; an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 1993; 13:179–190.Google Scholar
Johnson, A, Wapner, RJ, Davis, GH, Jackson, LG: Mosaicism in chorionic villus sampling: An association with poor perinatal outcome. Obstet Gynecol 1990; 75:573–577.Google ScholarPubMed
Wapner, RJ, Simpson, JL, Golbus, MS, et al: Chorionic mosaicism: Association with fetal loss but not with adverse outcome. Prenat Diagn 1992; 12:347–355.CrossRefGoogle ScholarPubMed
Ammala, P, Hilesmaa, VK, Liukkonen, S, Saisto, T, Teramo, K, , Vonkoskull H: Randomized trial comparing first-trimester transcervical chorionic villus sampling and second-trimester amniocentesis. Prenat Diagn 1993; 13:919–927.CrossRefGoogle ScholarPubMed
Medical Research Council Working Party on the Evaluation of Chorion Villus Sampling: Medical Research Council European trial of chorionic villus sampling. Lancet 1991; 377:1491–1496.
Olney RS, Khoury MJ, Alo CJ, Costa P, Edmonds LD, et al: Increased risk for transverse digital deficiency after chorionic villus sampling: Results of the United States Multistate Case-Controlled Study, 1988–1992. Teratology 1995; 51(1): 20–29.
Golden CM, Ryan LM, Holmes LB: Chorionic villus sampling: A distinctive teratologic effect on fingers? Birth Defects Res A Clin Mol Teratol 2003; 67(8)557–562.
Canadian Collaborative CVS–Amniocentesis Clinical Trial Group: Mullticentre randomized clinical trial of chorion villus sampling and amniocentesis. Lancet 1989; 1:1–6.
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; 320:609–617.CrossRefGoogle ScholarPubMed
Smidt-Jensen, S, Permin, M, Philip, J, et al: Randomised comparison of amniocentesis and transabdominal and transcervial chorionic villus sampling. Lancet 1992; 340:1237–1244.CrossRefGoogle Scholar
Kuliev, AM, Modell, B, Jackson, L, Simpson, JL, Brambati, B, Rhoads, G, et al: Risk evaluation of CVS. Prenat Diagn 1993; 13:197–208.CrossRefGoogle ScholarPubMed
Froster-Iskenius, VA, Baird, PA: Limb reduction defects in over one million consecutive live births. Teratology 1989; 39:127–135.CrossRefGoogle Scholar
Mastroiacovo, P, Tozzi, AE, et al: Transverse limb reduction defects after chorionic villus sampling: a retrospective cohort study. Prenat Diagn 1993; 13:1051–1056.Google ScholarPubMed
Alfirevic, Z, Sundberg, K, Birgham, S: Amniocentesis and chorionic villus sampling for prenatal diagnosis [Review]. The Cochrane Library 2005; 4. Update Software, Oxford.Google Scholar
Waterhouse, JAH: Twinning in twin pedigrees. Br J Soc Med 1950; 4:197–216.Google ScholarPubMed
Bulmer, MG: Twinning rate in Europe during the war. Br Med J 1959; 1:29–30.CrossRefGoogle ScholarPubMed
Myrianthopoulos, NC: An epidemiologic survey of twins in a large prospectively studied population. Am J Hum Genet 1970; 22:611–629.Google Scholar
Nicolaides KH: The 11–14 weeks scan 2004; London: Fetal Medicine Foundation. pg. 10.
Rodis, JF, Egan, JFX, Craffey, MS, Ciarleglio, L, Greenstein, RM, Scorza, WE: Calculated risk of chromosomal abnormalities in gestations. Obstet Gynecol 1990; 76:1037–1041.Google ScholarPubMed
Palle, C, Andersen, JW, Tabor, A, Lauritsen, JG, Bang, J, Phillips, J: Increased risk of abortion after genetic amniocentesis in twinpregnancies. Prenat Diagn 1983; 3:83–89.CrossRefGoogle Scholar
Anderson, RL, Goldberg, JD, Golbus, MS: Prenatal diagnosis in multiple gestation: 20 years' experience with amniocentesis. Prenat Diagn 1991; 11:263–270.CrossRefGoogle ScholarPubMed
Ghidini, A, Lynch, L, Hicks, C, Alvarez, M, Lockwood, CJ: The risk of second-trimester amniocentesis in twin gestations: A case-control study. Am J Obstet Gynecol 1993; 169:1013–1016.CrossRefGoogle ScholarPubMed
Jeanty, P, Shah, D, Roussis, P: Single-needle insertion in twin amniocentesis. J Ultrasound Med 1990; 9:511–517.CrossRefGoogle ScholarPubMed
Yukobowich E, Anteby EY, Cohen SM, Lavy Y, Granat M, Yagel S: Risk of fetal loss in twin pregnancies undergoing second-trimester amniocentesis. Obstet Gynecol 2001; 98:231–234.
Brambati, B, Tului, L, Travi, M, et al: First-trimester genetic diagnosis in multiple pregnancy: Principles and potential pitfalls. Prenat Diagn 1991; 11:767–774.CrossRefGoogle ScholarPubMed
Quintero, RA, Reich, H, Puder, KS, Bardneff, M, Evans, MI, Cotton, DB, Romero, R: Brief report: Umbilical cord ligation of an acardiac twin by fetoscopy at 19 weeks' gestation. N Engl J Med 1994; 330:469–471.CrossRefGoogle Scholar
Hsu LYF: Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Milunsky, A (ed): Genetic Disorders and the Fetus. Third Edition. Baltimore: Johns Hopkins University Press, 1992; pp. 155–210.Google Scholar
Wright, DJ, Brindley, BA, Koppitch, FC, Drugan, A, Johnson, MP, Evans, MI: Interpretation of chorionic villus sampling laboratory results are just as reliable as amniocentesis. Obstet Gyencol 1989; 74:739–744.Google ScholarPubMed
Ledbetter, DH, Martin, AO, Verlinsky, Y, et al: Cytogenetic results of chorionic villus sampling: High success rate and diagnostic accuracy in the United States collaborative study. Am J Obstet Gynecol 1990; 162:495–501.CrossRefGoogle ScholarPubMed
Smidt-Jensen, S, Lind, AM, Permin, M, Zachary, JM, Windsteen, C, Philip, J: Cytogenetic analysis of 2928 CVS samples and 1075 amniocentesis from randomized studies. Prenat Diagn 1993; 13:723–740.CrossRefGoogle ScholarPubMed
Kerber, S, Held, KR: Early genetic amniocentesis – 4 years experience. Prenat Diagn 1993; 13:21–27.CrossRefGoogle Scholar
Lockwood, DH, Neu, RL: Cytogenetic analysis of 1375 amniotic fluid specimens from pregnancies with gestational age less than 16 weeks. Prenat Diagn 1993; 13:801–805.CrossRefGoogle Scholar
Boehm, F, Salyer, SL, Dev, VG, Reed, CW: Chorionic villus sampling: Quality control – a continuous improvement model. Am J Obstet Gynecol 1993; 168:1766–1777.CrossRefGoogle ScholarPubMed
Weisz B, Rodeer CH: An update on antenatal screening for Down's syndrome and specific implications for assisted reproduction pregnancies. Hum Reprod Update 2006; 12(5):513–518.
Ball RH, Caughey AB, Malone FD et al: FASTER research consortium. First and second trimester evaluation of risk for Down syndrome. Obstet Gynecol 2007; 110(1):10–17.
Natarajan G, Klein MD: The fetus as a patient: Prenatal diagnosis and fetal therapy. Medicine (imedicine.com) 2006, topic-2953.
Breathnach FM, Malone FD, Lambert Messerlian G, et al, FASTER research consortium: First and second trimester screening: Detection of aneuploidies other than Down syndrome. Obstet Gynecol 2007; 40(3): 651–657.
Simpson, JL, Elias, S: Isolating fetal cells from maternal blood: Advances in prenatal diagnosis through molecular technology. JAMA 1993; 270:2357–2361.CrossRefGoogle ScholarPubMed
Hamada, H, Arirami, T, Hamaguchi, H, Kubo, T: Fetal nucleated cells in maternal peripheral blood after delivery. Am J Obstet Gynecol 1994; 170:1188–1193.CrossRefGoogle ScholarPubMed
Navidi, W, Arnheim, N: Using PCR in preimplantation genetic disease diagnosis. Hum Reprod 1991; 6:836–849.CrossRefGoogle ScholarPubMed
Marik JJ: Preimplantation genetic diagnosis. emedicine (imedicine.com) 2005, Topic-3520.
Hardyside, AH, Kontogianni, EH, Hathy, K, Winston, AML: Pregnancies from biopsied human perimplantation embryos sexed by 4 specific DNA amplification. Nature 1990; 344:768–770.CrossRefGoogle Scholar
Handyside, AH, Lesko, JG, Tarin, JJ, Winston, RMC, Hughes, MR: Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 1992; 327:909.Google ScholarPubMed

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