Abstract
Prenatal diagnostic tests can be divided into those involving measurement of chemicals in maternal blood; imaging the fetus; and invasive tests to remove tissues of fetal origin. The last may be divided into those carried out beyond about 14 weeks’ gestational age (GA), before 14 weeks but after implantation, and those in the preimplantation period. The first group (beyond 14 weeks) includes fetal blood sampling, fetal tissue biopsy, “good old-fashioned” mid-pregnancy amniocentesis, and transabdominal chorion biopsy. The last group (preimplantation diagnosis) includes embryo biopsy and polar body analysis. This chapter considers the middle group; early amniocentesis, transabdominal chorion villus biopsy or sampling (CVS) and transcervical CVS as the main contenders, with rival sideshows such as aspiration of chorionic villi, amniotic or blastocyst fluid through the vaginal fornices and cytological sampling of the lower uterine segment. Although consumer choice is regarded as a good thing, you can have too much of all good things and excessive choice is bewildering [1]. It is time for one or two “market leaders” to emerge: each test will be considered in turn.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Lilford RJ. “In my day we just had babies”. J Reprod Infant Psychol 1989; 7:187–91.
Hahnemann N. Early prenatal diagnosis; a study of biopsy techniques and cell culturing from extraembryonic membranes. Clin Genet 1974; 6:294–306.
Hamilton WJ, Boyd JD. Development of the human placenta. In: Philipp E, Barnus J, Newton M, eds. Scientific foundations of obstetrics and gynaecology. London: Heinemann Medical Books, 1970; 185–253.
Gosden JR, Gosden CM, Mitchell AR, Rodeck CH, Morsman JM. Direct vision chorion biopsy and chromosome-specific DNA probes for determination of fetal sex in first trimester prenatal diagnosis. Lancet 1982; ii:1416–19.
Rodeck CH, Morsman JM, Gosden CM, Gosden JR. Development of an improved technique for first-trimester microsampling of chorion. Br J Obstet Gynaecol 1983; 90:1113–18.
Gustavii B. First-trimester chromosomal analysis of chorionic villi obtained by direct vision technique. Lancet 1983; i:507–8.
Gustavii B, Chester MA, Edvall H et al. First-trimester diagnosis on chorionic villi obtained by direct vision technique. Hum Genet 1984; 65:373–6.
Nordenskjold F, Gustavii B. Direct vision chorionic villi biopsy for prenatal diagnosis in the first trimester. J Reprod Med 1984; 29:572–4.
Elias S, Simpson JL, Martin AO, Sabbagha RE, Gerbie AB, Keith LG. Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University Program. Am J Obstet Gynecol 1985; 152:204–13.
Maxwell D, Czepulkowski BH, Heaton DE, Coleman DV, Lilford R. A practical assessment of ultrasound-guided transcervical aspiration of chorionic villi and subsequent chromosomal analysis. Br J Obstet Gynaecol 1985; 92:660–5.
Perry TB, Vekemans MJJ, Lippman A, Hamilton EF, Fournier PJR. Chorionic villi sampling: clinical experience, immediate complications, and patient attitudes. Am J Obstet Gynecol 1985; 151:161–6.
Verlinsky Y, DeChristopher PJ, Pergament E, Ginsberg NA. Histomorphological aspects of chorionic villi in first trimester fetal diagnosis. In: Fraccaro M, Simoni G, Brambati B, eds. First trimester fetal diagnosis. Heidelberg: Springer-Verlag, 1985; 178–88.
Alvarez H. Diagnosis of hydatidiform mole by transabdominal placental biopsy. Fetus Newborn 1965; 95:538–41.
Smidt-Jensen S, Hahnemann N. Transabdominal fine needle biopsy from chorionic villi in the first trimester. Prenat Diagn 1984; 4:163–9.
Lilford RJ, Maxwell D. The development of a transcutaneous technique for chorion biopsy. Proceedings of prenatal diagnosis group meeting “Progress in first trimester diagnosis”, Queen Charlotte’s Hospital, London, 1984.
Maxwell DJ, Lilford RJ, Czepulkowski B, Heaton D, Coleman D. Transabdominal chorionic villus sampling. Lancet 1986; i:123–6.
Lilford RJ, Irving HC, Linton G, Mason MK. Transabdominal chorion villus biopsy: 100 consecutive cases. Lancet 1987; i:1415–16.
Brambati B, Oldrini A, Lanzani A. Transabdominal chorionic villus sampling: a freehand ultrasound-guided technique. Am J Obstet Gynecol 1987; 157:134–7.
Brambati B, Oldrini A, Lanzani A, Terzian E, Tognoni G. Transabdominal versus transcervical chorionic villus sampling: A randomized trial. Hum Reprod 1988; 3:811–13.
Bovicelli L, Rizzo N, Montacuti V, Morandi R. Transabdominal versus transcervical routes for chorionic villus sampling. Lancet 1986; ii:290.
Mackenzie WE, Holmes DS, Newton JR. Study comparing transcervical with transabdominal sampling (CVS). Br J Obstet Gynaecol 1988; 95:75–8.
Lilford RJ. Does the tradeoff between the gestational age and miscarriage risk of a prenatal diagnostic test vary according to genetic risk? Lancet 1990; 336:1303–5.
Blakemore KJ, Samuelson J, Breg WR, Mahoney MJ. Maternal metaphases on direct chromosome preparation of first trimester decidua. Hum Genet 1985; 69:380.
MacLachlan NA, Rooney DE, Coleman D, Rodeck CH. Prenatal diagnosis: early amniocentesis or chorionic villus sampling. Contemp Rev Obstet Gynaecol 1989; 173–80.
Godmilow L, Weiner S, Dunn LK. Early genetic amniocentesis: experience with 600 consecutive procedures and comparison with chorionic villi sampling (Abstract). Am J Hum Genet 1988; 43 (Suppl 3):A234.
Arnovitz KS, Priest JH, Elsas LJ, Strumlauf E. Amniocentesis prior to 14.5 weeks gestation: experience in 142 cases (Abstract). Am J Hum Genet 1988; 43(Suppl 3):A225.
Miller WA, Davies RM, Thayer BA, Peakman D, Harding K, Henry G. Success, safety and accuracy of early amniocentesis. Am J Hum Genet 1987; 41 (Suppl):A281.
Hanson FW, Zorn EM, Tennant FR, Marianos S, Samuals S. Amniocentesis before 15 weeks gestation: outcome, risks and technical problems. Am J Obstet Gynecol 1987; 156:1524–31.
Johnson A, Godmilow L. Genetic amniocentesis at 14 weeks or less. Clin Obstet Gynecol 1988; 31:345–52.
Stripparo L, Bruscaglia M, Longatti et al. Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation. Prenat Diagn 1990; 10:359–64.
Hanson FW, Happ RL, Tennant FR, Hune S, Peterson AG. Ultrasonography-guided early amniocentesis in singleton pregnancies. Am J Obstet Gynecol 1990; 162:1376–83.
Burton BK, Pettenati MJ. False positive acetylcholinesterase with amniocentesis (Abstract). Am J Hum Genet 1988; 43 (Suppl 3):A903.
Rodeck CH, Ivan D. Sampling pure fetal blood in twin pregnancies by fetoscopy using a single uterine puncture. Prenat Diagn 1981; 7:43–9.
Niazi M, Coleman DV, Mowbray JF, Blunt S. Tissue typing amniotic fluid cells: potential use for detection of contaminating maternal cells. J Med Genet 1979; 16:21–3.
Mulcahy MT, Roberman B, Reid SE. Chorion biopsy, cytogenetic diagnosis and selective termination in a twin pregnancy at risk of haemophilia. Lancet 1984; ii:866–7.
Orrell RW, Lilford RJ. Chorionic villus sampling and rare side-effects. Will a randomised controlled trial detect them? Int J Gynecol Obstet 1990 (in press).
Finikiotis G, Gower L. Chorion villus sampling — transcervical or transabdominal? Aust NZ J Obstet Gynaecol 1990; 30:63–5.
Brambati B, Lanzani A, Tului L. Transabdominal and transcervical chorionic villus sampling: efficiency and risk evaluation of 2,411 cases. Am J Med Genet 1990; 35:160–4.
Wapner RJ, Davis G, Jackson LG, Johnson A, Ronkin SL, Fischer RL. A randomised prospective comparison of transcervical and transabdominal chorionic villus sampling. Jefferson Medical College — report in preparation.
Hobbins JC. Consequences of chorionic biopsy. N Engl J Med 1984; 310:1121.
Wilson RD, Kendrick V, Wittman BK, McGillivray BC. Risk of spontaneous abortion in ultrasonically normal pregnancies. Lancet 1984; ii:290.
Liu et al. In: Jackson Newsletter: Early prenatal diagnosis. Jefferson Medical College, Philadelphia, 1987.
Gilmore DH, McHay MB. Spontaneous fetal loss rate in early pregnancy. Lancet 1985; i:107.
Crane JP, Beaver HA, Cheung SW. First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis. Preliminary results of a controlled prospective trial. Prenat Diagn 1988; 8:355–661.
Tabor A, Masden M, O’Bell EB et al. Randomised controlled trial of genetic amniocentesis in 4,606 low risk women. Lancet 1986; i:1287–92.
National Institute of Child Health and Human Development. Mid-trimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 1976; 236:1471–6.
Maxwell DJ, Lilford RJ. An interesting ultrasonic observation following chorionic villus sampling. J Clin Ultrasound 1985; 13:343–4.
Scialli AR, Neugebauer DL, Fabros S. Microbiology of the endocervix in patients undergoing chorionic villi sampling. In: Fraccaro M, Simoni G, Brambati B, eds. First trimester fetal diagnosis. Heidelberg: Springer-Verlag, 1985; 69–73.
Jouppila P, Huhtaniemi I, Herva R, Piiroinen O. Correlation of human chorionic gonadotrophin secretion in early pregnancy failure with site of gestational sac and placental histology. Obstet Gynecol 1984; 63:537–42.
Nevin J, Nevin NC, Dornan JC, Sim D, Armstrong JC. Early amniocentesis: experience of 222 consecutive patients, 1987–1988. Prenat Diagn 1990; 10:79–83.
Garrison CP, Berry PK, Mitter NS, Snoey DM, Johnston JS. Early amniocentesis and rapid prenatal diagnosis. Am J Hum Genet 1988; 43(Suppl 3):A234.
Elejalde BR, de Elejalde MM. Early genetic amniocentesis, safety, complications, time to obtain results and contradictions (Abstract). Am J Hum Genet 1988; 43(Suppl 3):A232.
Hislop A, Howard S, Fairweather DVI. Morphometric studies on the structural development of the lung in Macaca fascicularis during fetal and postnatal life. J Anat 1984; 138:95–112.
Lilford RJ, Irving H, Gupta JK, O’Donovan P, Linton G. Transabdominal chorion villus biopsy versus amniocentesis for diagnosis of aneuploidy: safety is not enough. In: Chapman M, Grudzinskas JG, Chard T, Maxwell D, eds. The embryo: normal and abnormal growth. Heidelberg: Springer-Verlag, 1991:91–100.
Monni G, Olla G, Cao A. Patient’s choice between transcervical and transabdominal chorionic villus sampling. Lancet 1988; ii:1057.
Lilford RJ. Trade-off between gestational age and miscarriage risk of prenatal testing: does it vary according to genetic risk? Lancet 1990; 336:1303–5.
Brambati B, Lanzari A, Tului L. Transabdominal and transcervical chorionic villus sampling: efficiency and risk evaluation of 2,411 cases. Am J Med Genet 1990; 35:160–4.
Cohen-Overbeek TE, Hop WCJ, den Ouden M, Pijpers L, Jahoda MGJ, Wladimiroff JW. Spontaneous abortion rate and advanced maternal age: consequences for prenatal diagnosis. Lancet 1990; 336:27–9.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Springer-Verlag London Limited
About this chapter
Cite this chapter
Lilford, R.J. (1991). Invasive Diagnostic Procedures in the First Trimester. In: Drife, J.O., Donnai, D. (eds) Antenatal Diagnosis of Fetal Abnormalities. Springer, London. https://doi.org/10.1007/978-1-4471-1854-1_7
Download citation
DOI: https://doi.org/10.1007/978-1-4471-1854-1_7
Publisher Name: Springer, London
Print ISBN: 978-1-4471-1856-5
Online ISBN: 978-1-4471-1854-1
eBook Packages: Springer Book Archive