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Invasive prenatal diagnostic techniques

Published online by Cambridge University Press:  10 October 2008

S Arulkumaran  and
CH Rodeck
S Arulkumaran
Affiliation:
Royal Postgraduate Medical School, London, UK
CH Rodeck*
Affiliation:
Royal Postgraduate Medical School, London, UK
*
Professor CH Rodeck, Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's and Chelsea Hospital, Goldhawk Road, London W6 0XG, UK.
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Extract

Subspecialization in fetal medicine has expanded the scope for obstetricians to investigate the fetus and its surrounding environment in greater detail. Of the advances in technology that have made this possible, ultrasonography is the most important. A high degree of skill is required if it is to be applied to the performance of invasive diagnostic techniques. These should be performed only in specialized centres with appropriate facilities and an adequate referral base. However, it is important for obstetricians to know what is possible in the field of prenatal diagnosis and therapy in order to give patients the best advice.

Type
Articles
Information
Fetal and Maternal Medicine Review , Volume 2 , Issue 2 , July 1990 , pp. 171 - 185
Copyright
Copyright © Cambridge University Press 1990

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References

Hahnemann, N, Mohr, J. Genetic diagnosis in the embryo by means of biopsy from extra-embryonic membranes. Bull Eur Soc Hum Genet 1968; 2: 23–29.Google Scholar
Kullander, S, Sandahl, B. Fetal chromosome analysis after transcervical placental biopsies during early pregnancy. Acta Obstet Gynaecol Scand 1973; 52: 355–59.CrossRefGoogle ScholarPubMed
Tietung Hospital of Anshan Steel Works. Department of Obstetrics and Gynaecology. Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy. Chin Med J 1975; 1: 117–26.Google Scholar
Brambati, B, Tului, L, Simoni, G, Travi, M. Prenatal diagnosis at 6 weeks. Lancet 1988; 3: 397.CrossRefGoogle Scholar
Nicolaides, KH, Rodeck, CH, Soothill, PW, Warren, RC. Why confine chorionic villus (placental) biopsy to the first trimester? Lancet 1986; 1: 543–44.CrossRefGoogle ScholarPubMed
Horwell, DH, Loeffler, FE, Coleman, DV. Assessment of transcervical aspiration technique for chorionic villus biopsy in the first trimester of pregnancy. Br J Obstet Gynaecol 1983; 90: 196–98.CrossRefGoogle ScholarPubMed
Gosden, JR, Mitchell, AR, Gosden, CM, 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; 2: 1418–20.Google ScholarPubMed
Rodeck, CH, Morsman, JM, Nicolaides, KH, McKenzie, C, Gosden, CM, Gosden, JR. A single operator technique for first trimester chorion biopsy. Lancet 1983; 2: 1340–41.CrossRefGoogle ScholarPubMed
Ward, RHT, Modell, B, Petrou, M, Karagozlou, F, Douratsos, E. Method of sampling chorionic villi in first trimester of pregnancy under guidance of real-time ultrasound. Br Med J 1983; 286: 1542–44.CrossRefGoogle ScholarPubMed
Maxwell, D, Lilford, R, Czepulkowski, B, Heaton, D, Coleman, D. Transabdominal chorionic villus sampling. Lancet 1986; 1: 123–26.CrossRefGoogle ScholarPubMed
Kazy, Z, Rozovsky, IS, Bakharev, VA. Chorion biopsy in early pregnancy: a method of early prenatal diagnosis for inherited disorders. Prenatal Diag 1982; 2: 39–45.CrossRefGoogle Scholar
Goossens, MN, Dumez, Y, Kaplan, L et al. Prenatal diagnosis of sickle cell anaemia in the first trimester of pregnancy. N Engl J Med 1983; 309: 831–33.CrossRefGoogle ScholarPubMed
Rosevear, SK. Placental biopsy. Br J Hosp Med 1989; 41: 334–48.Google ScholarPubMed
Simoni, G, Brambati, B, Danesino, C et al. Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983; 63: 349–57.CrossRefGoogle ScholarPubMed
Saura, R, Longy, M, Horovitz, J, Vergnaud, A, Grison, O. Direct chromosome analysis in the second and third trimester by placental biopsy in 30 pregnancies. Br J Obstet Gynaecol 1989; 96: 1215–18.CrossRefGoogle ScholarPubMed
Sutherland, GR, Hinton, L. Heritable fragile sites on human chromosomes VI. Characterisation of the fragile site at 12 q 13. Hum Genet 1981; 57: 217–19.CrossRefGoogle Scholar
Nicolaides, KH, Rodeck, CH, Gosden, CM. Rapid karyotyping in non-lethal fetal malformation. Lancet 1986; 1: 283–87.CrossRefGoogle Scholar
Williamson, R, Eskdale, J, Coleman, DV, Niazi, M, Loeffler, FE, Modell, B. Direct gene analysis of chorionic villi: a possible technique for the first trimester diagnosis of haemoglobinopathies. Lancet 1981; 2: 1125–27.CrossRefGoogle ScholarPubMed
Shehab, FF, Doherty, M, Cai, S, Kan, YW, Cooper, S, Rubin, EM. Detection of sickle cell anaemias and thalassaemias. Nature 1987; 329: 293–94.Google Scholar
Ho-Terry, L, Londesborough, P, Rees, KR et al. Diagnosis of fetal rubella infection by nucleic acid hybridization. J Med Virol 1988; 24: 175–78.CrossRefGoogle ScholarPubMed
Terry, GM, Ho-Terry, L, Warren, RC et al. First trimester prenatal diagnosis of congenital rubella: a laboratory investigation. Br Med J 1986; 292: 930–32.CrossRefGoogle ScholarPubMed
Jackson, L. CVS Newsletter. Philadelphia, 1988 (Feb 1–8).Google Scholar
Canadian Collaborative CVS – Amniocentesis Clinical Trial Group. First report: Multicentre randomised clinical trial of chorionic villus sampling and amniocentesis. Lancet 1989; 1: 2–6.Google Scholar
Hogge, WA, Schonberg, SA, Golbus, MS. Prenatal diagnosis by chorionic sampling: lessons of the first 600 cases. Prenatal Diag 1985; 5: 393–400.CrossRefGoogle ScholarPubMed
Verjaal, M, Leschot, NJ, Wolf, H, Treffers, PE. Karyotype differences between cells from placenta and other fetal tissues. Prenatal Diag 1987; 7: 343–48.CrossRefGoogle ScholarPubMed
Martin, AO, Simpson, JL, Rosinsky, BJ, Elias, S. Chorionic villus sampling in continuing pregnancies. Am J Obstet Gynecol 1986; 154: 1353–62.CrossRefGoogle ScholarPubMed
Schulze, B, Miller, K. Chromosomal mosaicism and maternal cell contamination in chorionic villi cultures. Clin Genet 1986; 30: 239–40.CrossRefGoogle ScholarPubMed
Green, JE, Dorfmann, A, Jones, S, Bender, SL, Patton, L, Schulman, JD. Chorionic villus sampling: experience with an initial 940 cases. Obstet Gynecol 1988; 71: 208–12.Google ScholarPubMed
Hsu, LY, Perils, TE. United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenatal Diag 1984; 4: 97–130.CrossRefGoogle ScholarPubMed
Bevis, DCA. The antenatal prediction of haemolytic disease of the newborn. Lancet 1952; 1: 395–98.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
Harrison, R, Campbell, S, Craft, I. Risks of fetomaternal haemorrhage resulting from amniocentesis with and without ultrasound placental localisation. Obstet Gynecol 1975; 46: 389–91.Google Scholar
Scrimgeour, JB. Amniocentesis: technique and complications. In: Emery, ACH ed, Antenatal diagnosis of genetic diseases, Edinburgh: Churchill Livingstone, 1973: 11–39.Google Scholar
Canadian Medical Research Council 1977. Diagnosis of genetic disease by amniocentesis during the second trimester of pregnancy. A Canadian study. Report No. 5. Supply Services, Ottawa, Canada.Google Scholar
National Institute of Child Health and Development Amniocentesis Register. The safety and accuracy of mid-trimester amniocentesis. US Department of Health, Education and Welfare, 1978; No. 78–190.Google Scholar
Medical Research Council 1978. An assessment of the hazards of amniocentesis Br J Obstet Gynaecol 1978; 85 (suppl 2).Google Scholar
Tabor, A, Philip, J, Marsen, M, Bang, J, Obel, FB, Morgaard-Pedersen, B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986; 1: 1287–93.CrossRefGoogle ScholarPubMed
MacLachlan, NA, Rooney, DE, Coleman, D, Rodeck, CH. Prenatal diagnosis: early amniocentesis or chorionic villus sampling. Contemp Rev Obstet Gynaecol 1989; 1: 173–80.Google Scholar
Nicolini, U, Risk, NM, Rodeck, CH, Talbert, DG, Wigglesworth, JS. Low amniotic pressure in oligohydramnios: is this the cause of pulmonary hypoplasia? Am J Obstet Gynecol 1989; 161: 1098–1101.CrossRefGoogle ScholarPubMed
Valenti, C. Endoamnioscopy and fetal biopsy; a new technique. Am J Obstet Gynecol 1972; 114: 561–64.CrossRefGoogle ScholarPubMed
Scrimgeour, JB. Other techniques for antenatal diagnosis. In: Emery, AEH ed, Antenatal diagnosis of genetic diseases, Edinburgh: Churchill Livingstone, 1973: 40–57.Google Scholar
Hobbins, JC, Mahoney, MJ. In utero diagnosis of haemoglobinopathies. Technic for obtaining fetal blood. N Engl J Med 1974; 290: 1065–67.CrossRefGoogle ScholarPubMed
Rodeck, CH, Campbell, S. Sampling pure fetal blood by fetoscopy in second trimester of pregnancy. Br Med J 1978; 2: 728–30.CrossRefGoogle ScholarPubMed
Rodeck, CH. Fetoscopy guided by real-time ultrasound for pure fetal blood samples and examination of the fetus in utero. Br J Obstet Gynaecol 1980; 87: 449–56.CrossRefGoogle ScholarPubMed
Rodeck, CH, Nicolaides, KH. Fetoscopy. Br Med Bull 1986; 42: 296–300.CrossRefGoogle ScholarPubMed
Kan, YW, Valenti, C, Guidotti, R, Carnazza, V, Rieder, RF. Fetal blood sampling in utero. Lancet 1974; 1: 79–80.CrossRefGoogle ScholarPubMed
Fairweather, DVI, Ward, RHT, Modell, B. Obstetric aspects of mid-trimester fetal blood sampling by needling or fetoscopy. Br J Obstet Gynaecol 1980; 87: 87–91.CrossRefGoogle ScholarPubMed
Daffos, F, Capella-Pavlovsky, M, Forestier, F. Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Prenatal Diag 1983; 3: 271–74.CrossRefGoogle ScholarPubMed
Nicolaides, KH, Soothill, PW, Rodeck, CH, Campbell, S. Ultrasound-guided sampling of umbilical cord and placental blood to assess fetal well-being. Lancet 1986; 1: 1065–67.CrossRefGoogle Scholar
Nicolini, U, Santaloya, J, Ojo, et al. The fetal intrahepatic vein as an alternative to cord needling for prenatal diagnosis and therapy. Prenatal Diag 1988; 8: 665–71.CrossRefGoogle ScholarPubMed
Nicolini, U, Nicolaides, P, Fisk, NM, Tannirandoru, Y, Rodeck, CH. Fetal blood sampling from the intrahepatic vein: analysis of safety and clinical experience with 214 procedures. Obstet Gynecol 1990 (in press).Google Scholar
Westgren, M, Selbing, A, Strangenberg, M. Fetal intracardiac transfusions in patients with severe rhesus isoimmunisation. Br Med J 1988; 296: 885–86.CrossRefGoogle ScholarPubMed
Mibashan, RS, Rodeck, CH. Haemophilia and other genetic defects of haemostasis. In: Rodeck, CH, Nicolaides, KH eds, Prenatal diagnosis, Chichester: Wiley, 1984: 179–94.Google Scholar
Harrison, MR, Golbus, MS, Filly, RA et al. Management of the fetus with congenital hydronephrosis. J Pediatr Surg 1982; 17: 728–42.CrossRefGoogle ScholarPubMed
Tsingoglou, RR, Dickson, JAS. Lower urinary obstruction in infancy. A review of lesions and symptoms in 165 cases. Arch Dis Child 1972; 47: 215–17.CrossRefGoogle ScholarPubMed
Nakayama, DK, Harrison, MR, de Lorimer, AA. Prognosis of posterior urethral valves presenting at birth. J Pediatr Surg 1986; 21: 43–45.CrossRefGoogle ScholarPubMed
Parker, RM. Neonatal urinary ascites: a potentially favourable sign in bladder outlet obstruction. Urology 1974; 3: 589–93.CrossRefGoogle ScholarPubMed
Kay, R, Brereton, RJ, Johnston, JH. Urinary ascites in the newborn. Br J Urol 1980; 52: 451–54.CrossRefGoogle ScholarPubMed
Adzick, NS, Harrison, MR, Flake, AW, de Lorimer, AA. Urinary extravasation in the fetus with obstructive uropathy. J Pediatr Surg 1985; 20: 608–15.CrossRefGoogle ScholarPubMed
Harrison, MR, Filly, RA, Parer, JT, Faer, MJ, Jacobson, JB, de Lorimer, AA. Management of the fetus with a urinary tract malformation. JAMA 1981; 246: 635–39.CrossRefGoogle ScholarPubMed
Harrison, MR, Nakayama, DK, Noall, R, de Lorimer, AA. Correction of congenital hydronephrosis in utero. II. Dsecompression reverses the effects of obstruction on the fetal lung and urinary tract. J Pediatr Surg 1982; 17: 965–74.CrossRefGoogle ScholarPubMed
Glick, PL, Harrison, MR, Adzick, NS, Noall, RA, Villa, RL. Correction of congenital hydronephrosis in utero. IV: In utero decompression prevents renal dysplasia. J Pediatr Surg 1984; 19: 649–57.CrossRefGoogle ScholarPubMed
Mahoney, BS, Filly, RA, Callen, PW, Hricak, H, Golbus, MS, Harrison, MR. Fetal renal dysplasia: sonographic evaluation. Radiology 1984; 152: 143–46.CrossRefGoogle Scholar
Nicolini, U, Rodeck, CH, Fisk, NM. Shunt treatment for fetal obstructive uropathy. Lancet 1987; 2: 1338–39.CrossRefGoogle ScholarPubMed
Rodeck, CH, Nicolini, U. Physiology of the mid-trimester fetus. Br Med Bull 1988; 44: 826–49.CrossRefGoogle ScholarPubMed
Elder, JS, Duckett, JW, Snyder, HM. Intervention for fetal obstructive uropathy: has it been effective? Lancet 1987; 1007–10.CrossRefGoogle ScholarPubMed
Reuss, A, Wladimiroff, JW, Stewart, PA, Scholtmeijer, RJ. Non-invasive management of fetal obstructive uropathy. Lancet 1988; 2:949–51.CrossRefGoogle ScholarPubMed
Schmidt, W, Harms, E, Wolf, D. Successful prenatal treatment of non immune hydrops fetalis due to congenital chylothorax. Br J Obstet Gynaecol 1985; 92: 685–87.CrossRefGoogle ScholarPubMed
Rodeck, CH, Fisk, NM, Fraser, DI, Nicolini, U. Long term in utero drainage of fetal hydrothorax. N Engl J Med 1988; 319: 1135–38.CrossRefGoogle ScholarPubMed
Scott, CR, Teng, CC, Goodman, SI, Greensher, A, Mace, JW. X-linked transmission of ornithine transcarbamylase deficiency. Lancet 1972; 2: 1148.CrossRefGoogle ScholarPubMed
Short, EM, Conn, HO, Snodgrass, PJ, Campbell, AGM, Rosenberg, LE. Evidence for X-linked dominant inheritance of ornithine transcarbamylase deficiency. N Engl J Med 1973; 288: 7.CrossRefGoogle ScholarPubMed
Rodeck, CH, Patrick, AD, Pembrey, ME, Tzannatos, C, Whitfield, AE. Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency. Lancet 1982; 2: 297–99.CrossRefGoogle ScholarPubMed
Natsuyama, E. Sonographic determination of fetal sex from twelve weeks of gestation. Am J Obstet Gynecol 1984; 149: 748–57.CrossRefGoogle ScholarPubMed
Reece, EA, Winn, HN, Wan, M, Burdine, C, Green, J, Hobbins, JC. Can ultrasonography replace amniocentesis in fetal gender determination during the early second trimester? Am J Obstet Gynecol 1987; 156: 579–81.CrossRefGoogle ScholarPubMed
Holzgreve, W, Golbus, MS. Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy. Am J Hum Genet 1984; 36: 320–28.Google ScholarPubMed
Piceni-Sereni, L, Bachmann, C, Pfister, U, Buscaglia, M, Nicolini, U. Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy. Prenatal Diag 1988; 8: 307–309.CrossRefGoogle ScholarPubMed
Howell, R.The glycogen storage diseases. In: Stanbury, JB, Wyngaarden, JB, Fredrickson, DS, Goldstein, JL, Brown, MS eds, The metabolic basis of inherited disease, New York: McGraw-Hill, 1983.Google Scholar
Williams, HH, Smith, LH. Primary hyperoxaluria. In: Stanbury, JB, Wyngaarden, JB, Fredrickson, DS, Golgstein, JL, Brown, MS eds, The metabolic basis of inherited disease, New York: McGraw-Hill, 1983.Google Scholar
Epstein, E. Diagnosis of metabolic diseases that affect the skin using cultured amniotic fluid cells. Semin Dermatol 1984; 3: 167–71.Google Scholar
Auerbach, AD. Diagnosis of diseases of DNA synthesis and repair that affect the skin using cultured amniotic fluid cells. Semin Dermatol 1984; 3: 172–84.Google Scholar
Eady, RAJ, Rodeck, CH.Prenatal diagnosis of disorders of the skin. In: Rodeck, CH, Nicolaides, KH eds, Prenatal diagnosis Proceedings of the 11th Study Group of the Royal College of Obstetricians and Gynaecologists, Chichester: Wiley, 1984: 147–58.Google ScholarPubMed
Rodeck, CH. Fetoscopy guided by real-time ultrasound for pure fetal blood samples, fetal skin samples and examination of the fetus in utero. Br J Obstet Gynaecol 1980; 87: 449–56.CrossRefGoogle ScholarPubMed
Bang, J.Intrauterine needle diagnosis: In: Holm, , Kristensen, . Interventional ultrasound. Copenhagen: Munksgaard, 1985: 122–28.CrossRefGoogle Scholar
Rodeck, CH, Eady, RAJ, Gosden, CM. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 1980; 1: 949–52.CrossRefGoogle ScholarPubMed
Elias, J, Mazur, M, Sabbagha, R, Esterly, J, Simpson, JL. Prenatal diagnosis of harlequin icthyosis. Clin Genet 1980; 17: 275–79.CrossRefGoogle Scholar
Anton-Lamprecht, I, Jovanovic, V, Arnold, ML, Rauskolb, R, Kern, B, Schenck, W. Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau Siemens with electron microscopy of fetal skin. Lancet 1981; 2: 1077–79.CrossRefGoogle ScholarPubMed
Golbus, MS, Sagebiel, RW, Filly, RA, Gindhart, TD, Hall, JG. Prenatal diagnosis of congenital bullous icthyosiform erythroderma (epidermolysis hyperkeratosis) by fetal skin biopsy. N Engl J Med 1980; 302: 93–95.CrossRefGoogle Scholar
Eady, RAJ, Gunner, DB, Garner, A, Rodeck, CH. Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. J Invest Dermatol 1983; 80: 210–12.CrossRefGoogle ScholarPubMed
Fisk, NM, Tannirandorn, Y, Nicolini, U, Talbert, DG, Rodeck, CH. Amniotic pressure in disorders of amniotic fluid volume. Am J Obstet Gynecol (in press).Google Scholar
Nicolini, U, Fisk, NM, Talbert, DG et al. Intrauterine manometry: technique and application to fetal pathology. Prenatal Diag 1989; 9: 243–54.CrossRefGoogle ScholarPubMed
Cabrol, D, Landesman, R, Muller, J, Uzan, M, Sureau, C, Saxena, BB., Treatment of polyhydramnios with prostaglandin synthetase inhibitor (indomethacin). Am J Obstet Gynecol, 1987; 157: 422–26.CrossRefGoogle ScholarPubMed
Cantor, B, Tyler, T, Nelson, R et al. Oligohydramnios and transient neonatal anuria. A possible complication of the maternal use of prostaglandin synthetase inhibitors. J Reprod Med 1980; 24: 220.Google ScholarPubMed
Moise, KJ, Huhta, JC, Sharif, DS et al. Indomethacin in the treatment of preterm labor: effects on ductus arteriosus. N Engl J Med 1988; 319: 327–31.CrossRefGoogle ScholarPubMed
Gembruch, U, Hansmann, M. Artificial instillation of amniotic fluid as a new technique for the diagnostic evaluation of cases of oligohydramnios. Prenatal Diag 1988; 8: 33–45.CrossRefGoogle ScholarPubMed
Nicolini, U, Santaloya, J, Hubinont, C, Fisk, NM, Maxwell, D, Rodeck, CH. Visualization of fetal intra-abdominal organs in second trimester severe oligohydramnios by intraperitoneal infusion. Prenatal Diag 1989; 9: 191–94.CrossRefGoogle ScholarPubMed
Arulkumaran, S, Nicolini, U, Fisk, NM, Rodeck, CH. Fetal vesicorectal fistula causing oligohydramnios in the second trimester – diagnosis and management. Br J Obstet Gynaecol (in press).Google Scholar
Arulkumaran, S, Nicolini, U, Fisk, NM, Tannirandorn, Y, Rosen, KG, Rodeck, CH. Antenatal ECG waveform analysis during intrahepatic vein fetal blood sampling (unpublished observations).Google Scholar
Lilja, H, Arulkumaran, S, Lindecrantz, K, Ratnam, SS, Rosen, KG. Fetal ECG during labour: a presentation of a microprocessor based system. J Biomed Eng 1988; 10: 348–50.CrossRefGoogle Scholar
Newbold, S, Wheeler, T, Clewlow, F, Soul, F. Variations in the T/QRS ratio of fetal electrocardiograms recorded during labour in normal subjects. Br J Obstet Gynaecol 1989; 96: 144–50.CrossRefGoogle Scholar