Pathology of the stillborn infant for the general pathologist: Part 1

Advances in Anatomic Pathology

Volumn 22, Issue 1, 2015, Pages 1-28

  Heller, Debra S ^a   Faye Petersen, Ona M ^b  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^b University of Alabama at Birmingham   (United States)

Author keywords

Autopsy; Congenital abnormalities; Pregnancy complications; Stillbirth

Indexed keywords

AMNION BAND; ANENCEPHALUS; ANEUPLOIDY; ANEURYSM; ANUS ATRESIA; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CHRONIC PANCREATITIS; COLLAGEN DISEASE; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DIABETES MELLITUS; DIAPHRAGM HERNIA; FETUS HYDROPS; FETUS HYPOXIA; FETUS MALFORMATION; FETUS MORTALITY; GASTROSCHISIS; GENETIC DISORDER; HEART DISEASE; HEMATOMA; HISTOLOGY; HUMAN; HYPERTENSION; INCISION; INFECTION; INFLAMMATORY BOWEL DISEASE; INTESTINE BYPASS; INTRAUTERINE GROWTH RETARDATION; KIDNEY AGENESIS; KIDNEY DISEASE; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; LIMB BODY WALL COMPLEX; LIMB MALFORMATION; LUNG DISEASE; MATERNAL DIABETES MELLITUS; MENINGOCELE; MENINGOMYELOCELE; MONOSOMY X; MOSAICISM; MULTIPLE PREGNANCY; NEURAL TUBE DEFECT; NUCHAL CORD; NUTRITIONAL DEFICIENCY; OLIGOHYDRAMNIOS; OMPHALOCELE; PATHOLOGICAL ANATOMY; PATHOLOGIST; PATHOLOGY; PENTALOGY OF CANTRELL; PLACENTA PREVIA; POTTER SYNDROME; PREECLAMPSIA; PRUNE BELLY SYNDROME; REVIEW; RISK FACTOR; SICKLE CELL ANEMIA; SMOKING; SOLUTIO PLACENTAE; STILLBIRTH; SUBSTANCE ABUSE; TISSUE INJURY; TORSION; TRACHEOESOPHAGEAL FISTULA; TRIPLOIDY; TRISOMY 13; TRISOMY 18; TRISOMY 21; TURNER SYNDROME; UMBILICAL ARTERY; UMBILICAL CORD PROLAPSE; UNIPARENTAL DISOMY; VASCULAR DISEASE; CONGENITAL DISORDER; FETUS; FETUS DISEASE; NEWBORN;

ANEUPLOIDY; AUTOPSY; CONGENITAL ABNORMALITIES; FETAL DISEASES; FETUS; HUMANS; INFANT, NEWBORN; STILLBIRTH;

EID: 84917740634     PISSN: 10724109     EISSN: 15334031     Source Type: Journal    
DOI: 10.1097/PAP.0000000000000054     Document Type: Review

References (111)

1. McPherson E. Discovering the cause of stillbirth. Curr Opin Obstet Gynecol. 2013;25:152-156.
2. The Stillbirth Collaborative Research Network Writing Group. Causes of death among stillbirths. JAMA. 2011; 306:2459-2468.
3. Kidron D, Bernheim J, Aviram R. Placental findings contributing to fetal death, a study of 120 stillbirths between 23 and 40 weeks gestation. Placenta. 2009;30:700-704.
4. Kapur RP. Practicing pediatric pathology without a microscope. Mod Pathol. 2001;3:229-235.
5. Korteweg FJ, Erwich JJHM, Timmer A, et al. Evaluation of 1025 fetal deaths: proposed diagnostic workup. AJOG. 2012;53:e1-e12.
6. Kim YA, Makar RS. Detection of fetomaternal hemorrhage. Am J Hematol. 2013;87:417-423.
7. Wylie BJ, D'Alton ME. Fetomaternal hemorrhage. Obstet Gynecol. 2010;115:1039-1051.
8. Bove KI. Practice guidelines for autopsy pathology: the perinatal and pediatric autopsy. Autopsy Committee of the College of American Pathologists. Arch Pathol Lab Med. 1997;121:368-376.
9. Guihard-Costa A, Menez F, Delezoide AL. Standards for dysmorphological diagnosis in human fetuses. Pediatr Dev Pathol. 2003;6:427-434.
10. Genest DR, Singer DB. Estimating the time of death in stillborn fetuses: III. External fetal examination; a study of 86 stillborns. Obstet Gynecol. 1992;80:593-600.
11. Genest DR, Singer DB. Estimating the time of death in stillborn fetuses: I. Histologic evaluation of fetal organs; an autopsy study of 150 stillborns. Obstet Gynecol. 1992;80: 575-584.
12. Genest DR, Singer DB. Estimating the time of death in stillborn fetuses: II. Histologic evaluation of the placenta; a study of 71 stillborns. Obstet Gynecol. 1992;80:585-592.
13. Beaconfield R. Placenta-The Largest Human Biopsy. Elkins Park, PA: Franklin Book Co; 1982.
14. Guihard-Costa AM, Menez F, Delezoide AL. Organ weights in human fetuses. Standards by gestational age and body weight. Pediatr Dev Pathol. 2002;5:559-578.
15. Kalousek DK, Fitch N, Paradice BA. Pathology of the Human Embryo and Previable Fetus, An Atlas. New York, NY: Springer-Verlag New York Inc.; 1990:15-199.
16. Dimmick JE, Kalousek DK. Developmental Pathology of the Embryo and Fetus. Philadelphia, PA: JB Lippincott Co; 1992:12-624.
17. Lissauer T. Physical examination of the newborn. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 9th ed. St. Louis, MO: Elsevier; 2011:494-499.
18. Wyatt-Ashmead J. Antenatal closure of the ductus areriosus and hydrops fetalis. Pediatr Dev Pathol. 2011;14: 469-474.
19. Wainright HC. My approach to performing a perinatal or neonatal autopsy. J Clin Pathol. 2006;59:673-680.
20. Anderson JM. Increased brain weight/liver weight ratio as a necropsy sign of intrauterine undernutrition. J Clin Pathol. 1972;25:867-871.
21. Landmann E, Reiss I, Misselwitz B, et al. Ponderal index for discrimination between symmetric and asymmetric growth restriction: percentiles for neonates from 30 weeks to 43 weeks of gestation. J Mat Fetal Med. 2006;19:157-180.
22. Ernst LM, Ruchelli ED, Huff DS. Color Atlas of Fetal and Neonatal Histology. New York: Springer; 2011.
23. Pauli RM. Stillbirth: fetal disorders. Clin Obstet Gynecol. 2010;53:646-655.
24. Chikkannaiah P, Roy M, Kangle R, et al. Glomerulogenesis: can it predict the gestational age? A study of 176 fetuses. Indian J Pathol Microbiol. 2012;55:303-307.
25. Resnik R. Intrauterine growth restriction. Obstet Gynecol. 2002;99:490-496.
26. Cox P, Marton T. Pathological assessment of intrauterine growth restriction. Best Pract Res Clin Obstet Gynaecol. 2009;23:751-764.
27. Collins JH. Umbilical cord accidents: human studies. Semin Perinatol. 2002;26:79-82.
28. Parast MM, Crum CP, Boyd TK. Placental histologic criteria for umbilical blood restriction in unexplained stillbirth. Hum Pathol. 2008;39:948-953.
29. Ryan WD, Trivedi N, Benirschke K, et al. Placental histologic criteria for diagnosis of cord accident: sensitivity and specificity. Pediatr Dev Pathol. 2013;15:275-280.
30. Chan JSY, Baergen RN. Gross umbilical cord complications are associated with placental lesions of circulatory stasis and fetal hypoxia. Ped Develop Pathol. 2012;15: 487-494.
31. Lin MG. Umbilical cord prolapse. Obstet Gynecol Surv. 2006;61:269-277.
32. Henry E, Andres RL, Christensen RD. Neonatal outcomes following a tight nuchal cord. J Perinatol. 2013;33: 231-234.
33. Dodds M, Windrim R, Kingdom J. Complex umbilical cord entanglement. J Matern Fetal Neonatal Med. 2012;25: 1827-1829.
34. Collins JH. Nuchal cord type A and type B. Am J Obstet Gynecol. 1997;177:94.
35. Dias T, Mahsud-Dornan S, Bhide A, et al. Cord entanglement and perinatal outcome in monoamniotic twin pregnancies. Ultrasound Obstet Gynecol. 2010;35:201-204.
36. Baergen RN. Cord abnormalities, structural lesions, and cord "accidents". Semin Diagn Pathol. 2007;24:23-32.
37. Machin GA, Ackerman J, Gilbert-Barness E. Abnormal umbilical cord coiling is associated with adverse perinatal outcomes. Pediatr Dev Pathol. 2000;3:462-471.
38. Peng HQ, Levitin-Smith M, Rochelson B, et al. Umbilical cord stricture and overcoiling are common causes of fetal demise. Pediatr Dev Pathol. 2006;9:14-19.
39. Pinar H, Carpenter M. Placenta and umbilical cord abnormalities seen with stillbirth. Clin Obstet Gynecol. 2010;53: 656-672.
40. Tan SJ, Chen CH, Wu GJ, et al. Fetal demise by umbilical cord around abdomen and stricture. Arch Gynecol Obstet. 2010;281:137-139.
41. Benirschke K. Obstetrically important lesions of the umbilical cord. J Reprod Med. 1994;39:262-272.
42. Heifetz SA. The umbilical cord: obstetrically important lesions. Clin Obstet Gynecol. 1996;39:571-587.
43. Weber MA, Sau A, Maxwell DJ, et al. Third trimester intrauterine fetal death caused by arterial aneurysm of the umbilical cord. Pediatr Dev Pathol. 2007;10:305-308.
44. Hay WW. Care of the infant of the diabetic mother. Curr Diab Rep. 2012;12:4-15.
45. Finkbeiner WE, Ursell PC, Davis RL. Postmortem examination of fetuses and infants. Autopsy Pathology. 2nd ed. St. Louis, MO: Saunders Elsevier; 2009:57-67.
46. Kousseff BG. Diabetic embryopathy. Curr Opin Pediatr. 1999;11:348-352.
47. Reddy UM, Goldenberg R, Silver R. Stillbirth classification-developing an international consensus for research: executive summary of a National Institute of Child Health and Human Development workshop. Obstet Gynecol. 2009;114:901-914.
48. Nold JL, Georgieff MK. Infants of diabetic mothers. Pediatr Clin N Am. 2004;51:619-637.
49. Bruce JH, Romaquera RL, Rodriquez MM, et al. Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum. Fetal Pediatr Pathol. 2009;28:109-131.
50. ACOG Practice Bulletin. Management of stillbirth. Obstet Gynecol. 2009;113:748-761.
51. Reddy UM, Page GP, Saade GR, et al. NICHD Stillbirth Collaborative Research Network. Karyotype versus micro-array testing for genetic abnormalities after stillbirth. N Engl J Med. 2012;367:2185-2193.
52. Gilbert Barness E, Debich-Spicer D. Embryo and Fetal Pathology Color Atlas With Ultrasound Correlation. New York, NY: Cambridge University Press; 2004: 102-387.
53. Gilbert-Barness E. Pathology of the Fetus, Infant and Child 2nd ed. Philadelphia, PA: Mosby Elsevier; 2007:65-1979.
54. Korteweg FJ, Bouman K, Erwich JJ, et al. Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup. Obstet Gynecol. 2008;111:865-874.
55. Silver RM. Optimal "work-up" of stillbirth: evidence! Am J Obstet Gynecol. 2012;206:1-2.
56. ACOG Committee Opinion No. 581. The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013;122:1374-1377.
57. Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obset. 1958;107:602-614.
58. Reyes-Mugica M. Pentalogy of Cantrell, ectopia cordis and frontonasal dysplasia. Am N Med Genet. 1992;44:540.
59. Keeling JW, Khong TY. Fetal and Neonatal Pathology. 4th ed. London, UK: Springer-Verlag London Limited; 2007: 148-718.
60. Canfield MA, Honein MA, Yuskiv N, et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2006;76:747-756.
61. Hwang PJ, Kousseff BG. Omphalocele and gastroschisis: an 18-year review study. Genet Med. 2004;6:232-236.
62. Kazaura MR, Lie RT, Irgens LM, et al. Increasing risk of gastroschisis in Norway: an age-period-cohort analysis. Am J Epidemiol. 2004;159:358-363.
63. Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Sem Fetal Neonatal Med. 2011;16: 164-172.
64. Kirby RS, Marshall J, Tanner JP, et al. National Birth Defects Prevention Network. Prevalence and correlates of gastroschisis in 15 states, 1995 to 2005. Obstet Gynecol. 2013;122(2pt 1):275-281.
65. Pepper MA, Fishbein GA, Teitell MA. Thoracoabdominal wall defect with complete ectopia cordis and gastroschisis: a case report and review of the literature. Pediatr Develop Pathol. 2013;16:348-352.
66. Mastroiacovo P, Lisi A, Castilla EE, et al. Gastroschisis and associated defects: an international study. Am J Med Genet A. 2007;143:660-671.
67. Goldbaum G, Daling J, Milham S. Risk factors for gastroschisis. Teratology. 1990;42:397-403.
68. Sadler TW. The embryologic origin of ventral body wall defects. Semin Pediatr Surg. 2010;19:209-214.
69. Nakayama DK, Harrison MR, Gross BH. Management of the fetus with an abdominal wall defect. J Pediatr Surg. 1984;19:408-413.
70. deVries P. The pathogenesis of gastroschisis and omphalocele. Pediatr Surg. 1980;15:245-251.
71. Hoyme H, Higgenbottom M, Jonese K. The vascular pathogenesis of gastroschisis. Intrauterine interruption of the omphalomesenteric artery. J Pediatr. 1981;98:228-231.
72. Feldkamp MI, Carey JC, Sadler TW. Development of gastroschisis: a review of hypotheses, a novel hypothesis, and implications for research. Am J Med Genet A. 2007; 143:639-652.
73. Werler MM, Mitchell AA, Moore CA, et al. National Birth Defects Prevention Study. Is there epidemiologic evidence to support vascular disruption as a pathogenesis of gastroschisis? Am J Med Genet A. 2009;149A:1399-1406.
74. Van Allen MI, Curry C, Gallagher L. Limb-body wall complex: I pathogenesis. Am J Med Genet. 1987;28:529-548.
75. Van Allen MI, Curry C, Gallagher L. Limb-body wall complex: II. Limb and spine defects pathogenesis. Am J Med Genet. 1987;28:549-565.
76. Bohm N. Pediatric Autopsy Pathology. A Color Atlas With Descriptive Text. Philadelphia, PA: Hanley & Belfus Inc.; 1988:134.
77. Hunter AGW, Seaver LH, Stevenson RE. Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A. 2011;155A:2045-2059.
78. Barros M, Gorgal G, Machado AP, et al. Revisiting amniotic band sequence: a wide spectrum of manifestations. Fetal Diagn Ther. 2013;35:51-56.
79. Torpin R. Amniochorionic mesoblastic fibrous rings and amniotic bands: associated constricting fetal malformations or fetal death. Am J Obstet Gynecol. 1965;91:65-75.
80. Kalousek DK, Bamforth S. Amnion rupture sequence in previable fetuses. Am J Med Genet. 1988;31:63-73, 65-75.
81. Streeter G Focal deficiencies in fetal tissues and their relation to intrauterine amputation. Contrib Embryol. 1930;22:3-44.
82. Hartwig NG, Vermeij-Keers C, DeVries HE, et al. Limb body wall malformation complex: an embryologic etiology? Hum Pathol. 1989;20:1071-1077.
83. Malinger G, Rosen N, Achiron R, et al. Pierre Robin sequence associated with amniotic band syndrome ultrasonographic diagnosis and pathogenesis. Prenatal Diagn. 1987;7: 455-459.
84. Stevenson RE. Human Malformations and Related Anomalies. 2nd ed. Oxford, England: Oxford University Press; 2006:343.
85. Goldfarb CA, Sathienkijkanchai A, Robin NH. Amniotic constriction band: a multidisciplinary assessment of etiology and clinical presentation. J Bone Joint Surg Am. 2009; 91(suppl 4):68-75.
86. Keller H, Neuhauser G, Durkin-Stamm MV, et al. "ADAM complex" (amniotic deformity, adhesions, mutilations)-a pattern of craniofacial and limb defects. Am J Med Genet. 1978;2:81-98.
87. Bamforth JS. Amniotic band sequence: Streeter's hypothesis reexamined. Am J Med Genet. 1992;44:280-287.
88. Robin N, Franklin J, Prucka S, et al. Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence. Am J Med Genet A. 2005;137A:298-301.
89. Online Mendelian Inheritance in Man 192350 (VATER Association). Available at: http://www.ncbi.nlm.nih.gov/omim.
90. Botto LD, Khoury MJ, Mastroiacovo P, et al. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997;71:8-15.
91. Garne E, Nielsen G, Hansen OK, et al. Tetralogy of Fallot. A population-based study of epidemiology, associated malformations and survival in western Denmark 1984-1992. Scand Cardiovasc J. 1999;33:45-48.
92. Digilio MC, Marino B, Toscano A, et al. Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet. 1999;85:140-146.
93. Knowles S, Thomas RM, Lindenbaum RH, et al. Pulmonary agenesis as part of the VACTERL sequence. Arch Dis Child. 1988;63(7 Spec No):723-726.
94. Chen C, Shih JC, Chang JH, et al. Prenatal diagnosis of right pulmonary agenesis associated with VACTERL sequence. Prenat Diagn. 2003;23:513-520.
95. Martinez-Frias ML, Merlob P, Ruusinen A, et al. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997;71:8-15.
96. Martinez-Frias ML, Frías JL. VACTERL as primary, polytopic developmental field defects. Am J Med Genet. 1998;83:13-16.
97. Rittler M, Paz JE, Castilla EE. VACTERL: an epidemiologic analysis of risk factors. Am J Med Genet. 1997;73: 162-169.
98. Damian MS, Seibel P, Schachenmayr W, et al. VACTERL with the mitochondrial NP 3243 point mutation. Am J Med Genet. 1996;62:398-403.
99. Ngan ES, Kim KH, Hui CC. Sonic hedgehog signaling and VACTERL association. Mol Syndromol. 2013;4:32-45.
100. Online Mendelian Inheritance in Man 276950 (VATER-H Association). Available at: http://www.ncbi.nlm.nih.gov/omim.
101. Van Allen MI, Kalousek DK, Chernoff GF, et al. Evidence for multi-site closure of the neural tube in humans. Am J Med Genet. 1993;47:723-743.
102. Srinivas D, Sharma BS, Mahapatra AK. Triple neural tube defect and the multisite closure theory for neural tube defects: is there an additional site? Case report. J Neurosurg Pediatr. 2008;1:160-163.
103. Ahmad FU, Mahapatra AK. Neural tube defects at separate sites: further evidence in support of multi-site closure of the neural tube in humans. Surg Neurol. 2009;71: 353-356.
104. Stevenson RE, Allen WP, Pai GS, et al. Decline in prevalence of neural tube defects in a high-risk region of the United States. Pediatrics. 2000;106:677-683.
105. Lennerz JK, Spence DC, Iskandar SS, et al. Glomerulocystic kidney: one hundred-year perspective. Arch Pathol Lab Med. 2010;134:583-605.
106. Krishnan A, de Souza A, Konijeti R, et al. The anatomy and embryology of posterior urethral valves. J Urol. 2006; 175:1214-1220.
107. Woolf AS, Stuart HM, Newman WG Genetics of human congenital urinary bladder disease. Pediatr Nephrol. 2013;29: 353-360.
108. Hassett S, Smith GH, Holland AJ. Prune belly syndrome. Pediatr Surg Int. 2012;28:219-228.
109. Popek EJ, Tyson RW, Miller GJ, et al. Prostate development in prune belly syndrome (PBS) and posterior urethral valves (PUV): etiology of PBS-lower urinary tract obstruction or primary mesenchymal defect? Pediatr Pathol. 1991; 11:1-29.
110. Keijzer R, Liu J, Deimling J, et al. Dual-hit hypothesis explains pulmonary hypoplasia in the nitrofen model of congenital diaphragmatic hernia. Am J Pathol. 2000;156:1299-1306.
111. Tovar JA. Congenital diaphragmatic hernia. Orphanet J Rare Dis. 2012;7:1.