Abstract
When pregnancy terminates prematurely, either electively or spontaneously, following investigations for or diagnosis of fetal malformation, there are three aspects of the subsequent examination of the fetus which deserve special attention. The first is confirmation of the nature of the abnormality for which termination of pregnancy was undertaken. The second is careful scrutiny of the fetus, placenta and membranes for any abnormality which might be related to the preceding investigations. Both of these points merit attention; together they comprise the quality control of antenatal diagnosis of malformation and are an essential, but often neglected, part of the antenatal diagnostic facility. The third, and perhaps the most important reason for fetal examination, is the careful documentation of all abnormalities which are present. It is the combination of external dysmorphic features and internal abnormalities which may accompany the major system anomaly identified prenatally that allows precise recurrence rates to be calculated.
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
Aitken DA, May HM, Ferguson-Smith MA (1984) Amniotic band disruption syndrome associated with elevated amniotic AFP and normal acetylcholinesterase gel test. Prenat Diagn 4: 443–446.
Balfour RP, Laurence KM (1980) Raised serum AFP levels and fetal renal agenesis. Lancet I: 317.
Barson AJ, Donnai P, Ferguson A, Donnai D, Read AP (1980) Haemangioma of the cord: further cause of raised maternal serum and liquor alphafetoprotein. Br Med J 281: 1252.
Bieber FR, Petres RE, Bieber JMcN, Nance WE (1979) Prenatal detection of a familial nuchal bleb simulating encephalocoele. Birth Defects XV (5A): 51–61.
Boué J, Chalmers RA, Tracey BM, Watson D, Gray RGF, Keeling JW, King GS, Pettit BR, Lindenbaum RH, Rocchiccioli F, Saudubray J-M (1984) Prenatal diagnosis of dysmorphic neonatal-lethal type II glutaric aciduria. Lancet I: 846–847.
Brambati B, Simoni G, Danesino C, Oldrini A, Ferrazzi E, Romitti L, Terzoli G, Rozzella F, Ferrari M, Fraccaro M (1985) First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet 22: 92–99.
Brock DJH (1976) Mechanisms by which amniotic-fluid alphafetoprotein may be increased in fetal abnormalities. Lancet II: 345–346.
Brock DJH, Sutcliffe RG (1972) Alpha fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet II: 197–199.
Brock, DJH, Barron L, Bedgood D, Hawward C (1985) Prospective prenatal diagnosis of cystic fibrosis. Lancet I: 1175–1178.
Chemke J, Miskin A, Ravacha Z, Porath A, Sagiv M, Katz Z (1977) Prenatal diagnosis of Meckel syndrome: alphafetoprotein and betatrace protein in amniotic fluid. Clin Genet 11: 285–289.
Cowchock FS, Wapner RJ, Kurtz A, Chatzkel S, Barnhart JS Jr, Lesnick DC (1982) Brief clinical report: not all cystic hygromas occur in the Ullrich-Turner syndrome. Am J Med Genet 12: 327–331.
Cuckle HS, Wald NJ, Lindenbaum RH (1984) Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet I: 926–929.
Davies KE, Pearson PL, Harper PS, Murray JM, O’Brien T, Sarfarazi M, Williamson R (1983) Genetic analysis of the short arm of the X-chromosome defined by two random cloned DNA sequences flanking Duchenne muscular dystrophy. Nucleic Acids Res 11: 2304.
Epley SL, Hanson JW, Cruikshank DP (1979) Fetal injury with midtrimester diagnostic amniocentesis. Obstet Gynecol 53: 77–80.
Firshein SI, Hoyer LW, Lazarchick J, Forget BG, Hobbins JC, Clyne LP, Pitlick FA, Muir WA, Merkatz IR, Mahoney MJ (1979) Prenatal diagnosis of classic hemophilia. New Engl J Med 300: 937.
Fitzsimons JS, Filshie GM, Hill AS, Kirne R (1976) Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-fetoprotein. J Med Genet 13: 400–412.
Gordon YB, Kitau MJ, Letchworth AT, Grudzinskas JG, Usherwood M McD, Chard T (1978) Fetal wastage as a result of an alpha-fetoprotein screening programme. Lancet I: 677–678.
Harrod MJE, Friedman JM, Santos-Ramos R, Rutledge J, Weinberg A (1984) Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound. Am J Obstet Gynecol 150: 38–40.
Hauge M, Bugge M, Nielsen J (1983) Early prenatal diagnosis of omphalocoele constitutes indication for amniocentesis. Lancet II: 507.
Higginbottom MC, Jones KL, Hall BD, Smith DW (1979) The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 95: 544–549.
Hobbins JC, Grannum PAT, Berkowitz RL, Silverman R, Mahoney MJ (1979) Ultrasound in the diagnosis of congenital anomalies. Am J Obstet Gynecol 134: 331–345.
Hobbins JC, Grannum PA, Romero R, Reece EA, Mahoney MJ (1985) Percutaneous umbilical blood sampling. Am J Obstet Gynecol 152: 1–6.
Holmes LB, Driscoll SG, Atkins L (1976) Etiologic heterogeneity of neural tube defects. New Engl J Med 294: 365–369.
Jones KL, Smith DW, Hall BD et al. (1974) A pattern of craniofacial and limb defects secondary to aberrant tissue bands. J Pediatr 84: 90–95.
Kalousek DK, Dill FJ (1983) Chromosomal mosaicism confined to the placenta in human conceptions. Science 221: 665–667.
Karp LE, Hayden PW (1977) Fetal puncture during midtrimester amniocentesis. Obstet Gynecol 49: 115–117.
Keeling JW (1987) Pathological aspects of sampling the amniotic fluid. In: Fox H (ed) Haines and Taylor’s obstetrical and gynaecological pathology. Churchill Livingstone, Edinburgh pp 1088–1120.
Keeling JW, Gough DJ, Iliff P (1983) The pathology of non-rhesus hydrops. Diagn Histopathol 6: 89–111.
Kirk EP, Wah RW (1983) Obstetric management of the fetus with omphalocoele or gastroschisis. A review and report of one hundred and twelve cases. Am J Obstet Gynecol 146: 512–518.
Kjessler B, Johansson SGO, Sherman M, Gustavson KH, Hultqvist G (1975) Alphafetoprotein in antenatal diagnosis of congenital nephrosis. Lancet I: 432–433.
Knowles SAS (1986) Examination of products of conception terminated after prenatal investigation. J Clin Pathol 39: 1049–1065.
Koontz WL, Seeds JW, Adams NJ, Johnson AM, Cefato RC (1983) Elevated maternal serum alpha-fetoprotein, second-trimester oligohydramnios and pregnancy outcome. Obstet Gynecol 62: 301–304.
Lamb MP (1975) Gangrene of a fetal limb due to amniocentesis. Br J Obstet Gynaecol 82: 829–830.
Laurence KM (1982) Antenatal detection of neural tube defects. In: Barson AJ (ed) Fetal and neonatal pathology. Praeger, New York, p 87.
Mann L, Alroomi L, McNay M, Ferguson-Smith MA (1983) Placental haemangioma. Case report. Br J Obstet Gynaecol 90: 983–986.
Mann L, Ferguson-Smith MA, Desai M, Gibson AAM, Raine PAM (1984) Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenat Diagn 4: 427–435.
Manning FA, Harman CR, Lange IR et al. (1983) Antepartum chronic fetal vesico-amniotic shunts for obstructive uropathy: a report of two cases. Am J Obstet Gynecol 145:819.
Marchese C, Savin E, Dragone E et al. (1985) Cystic hygroma: Prenatal diagnosis and genetic counselling. Prenat Diagn 5: 221–227.
Markowski B, Lawler SD (1977) Use of early fetal tissues obtained from suction termination of pregnancy. Lancet I: 186–188.
Medical Research Council (1978) An assessment of the hazards of amniocentesis. Br J Obstet Gynaecol 85 (Suppl 2): 1–41.
Merkatz IR, Nitowsky HM, Macri JN, Johnson WE (1984) An association between low maternal serum alphafetoprotein and fetal chromosome abnormalities. Am J Obstet Gynecol 148: 886–894.
Modell B (1984) Haemoglobinopathies—diagnosis by fetal blood sampling. In: Rodeck CH, Nicolaides KH (eds) Prenatal diagnosis. Royal College of Obstetricians and Gynaecologists, London, pp 93–98.
Modell B (1985) Chorionic villus sampling. Evaluating safety and efficacy. Lancet I: 737–740.
Modell B, Ward RHT, Fairweather DVI [1980) Effect of introducing antenatal diagnosis on reproductive behaviour of families at risk for thalassaemia major. Br Med J 162: 1347.
Murray JM, Davies KE, Harper PS, Meredith L, Mueller CR, Williamson R (1982) Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 300: 69–71.
Nevin NC, Ritchie A, McKeown F, Roberts G (1978) Raised alphafetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra. J Med Genet 15: 61–78.
Nevin NC, Nevin J, Thompson W, O’Hara MD (1983) Cystic hygroma simulating encephalocele. Prenat Diagn 3: 249–252.
NICHD National Registry for Amniocentesis Study Group (1976) Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 236: 1471–1476.
Nicolaides KH, Rodeck CH, Gosden CM (1986) Rapid karyotyping in non-lethal fetal malformations. Lancet I: 283–287.
Norgaard-Pedersen B, Bagger P, Bang J et al. (1985) Maternalserum-alphafetoprotein screening for fetal malformations in 28062 pregnancies. A four-year experience from a low-risk area. Acta Obstet Gynecol Scand 64: 511–514.
Old JM, Ward RHT, Karagozlu F, Petrou M, Modell B, Weatherall DJ (1982) First-trimester fetal diagnosis for haemoglobinopathies: three cases. Lancet II: 1413–1416.
Ossipoff V, Hall D (1977) Etiologic factors in the amniotic band syndrome: a study of 24 patients. Birth Defects XIII (3D): 117–132.
Pagon RA, Stephens TD, McGillivray BC et al. (1979) Body wall defects with reduction limb anomalies: a report of fifteen cases. Birth Defects XV (5A): 171–185.
Pasca AS, Pejtsik B, Wessely J (1983) Screening for neural-tube defects. Lancet II: 99–100.
Pergament E, Ginsberg N, Verlinsky Y et al. (1983) Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet II: 286.
Powers JM, Moser HW, Moser AB et al. (1985) Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. Hum Pathol 16: 610–620.
RCOG Working Party (1984) A review of the evidence for potential benefits from routine ultrasound examination. Royal College of Obstetricians and Gynaecologists, London.
Rhehder H (1978) Fetal limb deformities due to amniotic constrictions (a possible consequence of preceding amniocentesis). Pathol Res Pract 162: 316–326.
Rehder H, Weitzel H (1978) Intrauterine amputations after amniocentesis Lancet I: 382.
Riis P, Fuchs F (1960) Antenatal determination of foetal sex in prevention of hereditary diseases. Lancet II: 180–182.
Roberts CJ, Elder GH, Laurence KM et al. (1983) The efficacy of a serum screening service for neural-tube defects: the South Wales experience. Lancet I: 1315–1318.
Robinson A, Bowes W, Droegemueller W et al. (1973) Intrauterine diagnosis: potential complications. Am J Obstet Gynecol 116: 937–941.
Rushton DI (1981) Examination of products of conception from previable human pregnancies. J Clin Pathol 34: 819–835.
Seeds JW, Cefalo RC, Herbert WNP (1982) Amniotic band syndrome. Am J Obstet Gynecol 144: 243–248.
Seller MJ, Creasy MR, Alberman ED (1974) Alphafetoprotein levels in amniotic fluids from spontaneous abortions. Br Med J II: 524–525.
Seller MJ, Dumon JE, Vanderheyden JS (1977) Amniotic fluid in multiple pregnancy. Br Med J I: 1600.
Seppala M (1973) Increased alphafetoprotein in amniotic fluid associated with a congenital oesophageal atresia of the fetus. Obstet Gynecol 42: 623–624.
Smith AD, Wald NJ, Cuckle HS, Stirrat GM, Bobrow M, Lagercrantz H (1979) Amniotic-fluid acetylcholinesterase as a possible diagnostic test for neural-tube defects in early pregnancy. Lancet I: 685–688.
Smith DW (1982) Recognizable patterns of human malformation. Saunders, London (Major problems in clinical pediatrics, vol VII).
Steel MW, Breg WR Jr (1966) Chromosome analysis of amniotic fluid cells. Lancet I: 383–385.
Stirrat GM, Gough JD, Bullock S, Wald NJ, Cuckle HS (1981) Raised maternal serum AFP, oligohydramnios and poor fetal outcome. Br J Obstet Gynaecol 88: 231–235.
Swift PGF, Driscoll IB, Vawles KDJ (1979) Neonatal small bowel obstruction associated with amniocentesis. Br Med J I: 720.
Therkensen AJ, Rehder H (1981) Intestinal atresia caused by second trimester amniocentesis. Br J Obstet Gynaecol 88: 559–562.
Thom H, Johnstone FD, Gibson JI, Scott GB, Noble DW (1977) Fetal proteinuria in diagnosis of congenital nephrosis detected by raised alpha-fetoprotein in maternal serum. Br Med J I: 16–18.
Torpin R (1965) Amniochorionic mesoblastic fibrous strings and amniotic bands. Am J Obstet Gynecol 91: 65–75.
Vinson PC, Goldenberg RL, Davis RO et al. (1977) Fetal bladder neck obstruction and elevated amniotic fluid alphafetoprotein. New Engl J Med 297: 1351.
Wald NJ, Cuckle H, Stirrat GM, Turnbull AC (1978) Maternal serum alphafetoprotein and birth weight in twin pregnancies. Br J Obstet Gynaecol 85: 582–584.
Weatherall JAC (1982) A review of some effects of recent medical practices in reducing the numbers of children born with congenital abnormalities. Health Trends 14: 85–88.
Weinberg AG, Milunsky A, Harrod MJ (1975) Elevated amniotic fluid alphafetoprotein and duodenal atresia. Lancet II: 496.
Weidemann H-R, Grosse K-R, Dibbern H (1985) An atlas of characteristic syndromes. A visual aid to diagnosis. Wolfe Medical, London.
Wisniewski L, Skrgydlewski Z, Orciuch J (1974) Alpha-fetroprotein in amniotic fluid in early normal pregnancy and intrauterine fetal death. Br Med J III: 742.
Young ID, Lindenbaum RH, Thompson EM, Pembrey ME (1985) Amniotic bands in connective tissue disorders. Arch Dis Child 60: 1061–1063.
Youroukos S, Papadelis F, Matsaniotis N (1980) Porencephalic cysts after amniocentesis. Arch Dis Child 55: 814–815.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1987 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Keeling, J.W. (1987). Examination of the Fetus Following Prenatal Suspicion of Congenital Abnormality. In: Keeling, J.W. (eds) Fetal and Neonatal Pathology. Springer, London. https://doi.org/10.1007/978-1-4471-3523-4_4
Download citation
DOI: https://doi.org/10.1007/978-1-4471-3523-4_4
Publisher Name: Springer, London
Print ISBN: 978-1-4471-3525-8
Online ISBN: 978-1-4471-3523-4
eBook Packages: Springer Book Archive