Genetics of stillbirth

Clinical Obstetrics and Gynecology

Volumn 53, Issue 3, 2010, Pages 628-634

  Wapner, Ronald J ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; AUTOPSY; BONE DYSPLASIA; CHORION VILLUS; CHROMOSOME ABERRATION; DNA HYBRIDIZATION; DOWN SYNDROME; GAMETOGENESIS; GENE DELETION; GENETICS; GLYCOGEN STORAGE DISEASE; HEART ARRHYTHMIA; HEMOGLOBINOPATHY; KARYOTYPE; KARYOTYPING; LONG QT SYNDROME; MORPHOLOGY; MORULA; PHENOTYPE; REVIEW; STILLBIRTH; SUDDEN DEATH; TRISOMY; X CHROMOSOME LINKED DISORDER; ZYGOTE;

AUTOPSY; CHROMOSOME ABERRATIONS; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MOSAICISM; PLACENTA; PREGNANCY; STILLBIRTH;

EID: 77955104768     PISSN: 00099201     EISSN: None     Source Type: Journal    
DOI: 10.1097/GRF.0b013e3181ee2793     Document Type: Review

References (29)

1. Pauli RM, Reiser CA. Wisconsin Stillbirth Service Program: II. Analysis of diagnoses and diagnostic categories in the first 1000 referrals. Am J Med Genet. 1994;50:135-153.
2. ACOG Committee Opinion. Committee on Genetics. Genetic evaluation of stillbirths and neonatal deaths. Obstet Gynecol. 2001;97(suppl):1-3.
3. Kalousek DK, Barrett I. Confined placental mosaicism and stillbirth. Pediatr Pathol. 1994;14:151-159.
4. 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.
5. Pinar H, Carpenter M, Martin BJ, et al. Utility of fetal karyotype in the evaluation of phenotypically abnormal stillbirths. Pediatr Dev Pathol. 2009;12:217-221.
6. Pauli RM, Reiser CA, Lebovitz RM, et al. Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine deaths. Am J Med Genet. 1994;50:116-134.
7. Tyson RW, Kalousek DK. Chromosomal abnormalities in stillbirth and neonatal death. In: Dimmick JE, Kalousek DK, eds. Developmental Pathology of the Embyro and Fetus. Philadelphia, PA: Lippincott; 1992:83-110.
8. Christiaens GC, Vissers J, Poddighe PJ, et al. Comparative genomic hybridization for cytogenetic evaluation of stillbirth. Obstet Gynecol. 2000;96:281-286.
9. Won RH, Currier RJ, Lorey F, et al. The timing of demise in fetuses with trisomy 21 and trisomy 18. Prenat Diagn. 2005;25: 608-611.
10. Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983;221: 665-667.
11. Johnson A, Wapner RJ. Mosaicism: implications for postnatal outcome. Curr Opin Obstet Gynecol. 1997;9:126-135.
12. Kalousek DK, Vekemans M. Confined placental mosaicism. J Med Genet. 1996; 33:529-533.
13. Benn P. Trisomy 16 and trisomy 16 Mosaicism: a review. Am J Med Genet. 1998;79:121-133.
14. Lestou VS, Kalousek DK. Confined pla- cental mosaicism and intrauterine fetal growth. Arch Dis Child Fetal Neonatal Ed. 1998;79:F223-F226.
15. Kalousek DK. Pathogenesis of chromosomal mosaicism and its effect on early human development. Am J Med Genet. 2000;91:39-45.
16. Kalousek DK, Barrett IJ, McGillivray BC. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet. 1989;44:338-3343.
17. Wolstenholme J, Rooney DE, Davison EV. Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective UK collaborative survey. Prenat Diagn. 1994;14:345-361.
18. Kalousek DK, Howard-Peebles PN, Olson SB, et al. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined pla- cental mosaicism. Prenat Diagn. 1991;11: 743-750.
19. Hook EB, Topol BB, Cross PK. The natural history of cytogenetically abnormal fetuses detected at midtrimester am- niocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+ 21 and some other abnormal karyotypes. Am J Hum Genet. 1989;45:855-861.
20. Hook EB, Mutton DE, Ide R, et al. The natural history of Down syndrome con- ceptuses diagnosed prenatally that are not electively terminated. Am J Hum Genet. 1995;57:875-881.
21. Gunther G, Junker R, Strater R, et al. Symptomatic ischemic stroke in full-term neonates: role of acquired and genetic prothrombotic risk factors. Stroke. 2000; 31:2437-2441.
22. Bhuiyan ZA, Momenah TS, Gong Q, et al. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm. 2008;5:553-561.
23. Schwartz PJ. Stillbirths, sudden infant deaths, and long-QT syndrome: puzzle or mosaic, the pieces of the Jigsaw are being fitted together. Circulation. 2004; 109:2930-2932.
24. Warburton D, Dallaire L, Thangavelu M, et al. Trisomy recurrence: a reconsideration based on North American data. Am J Hum Genet. 2004;75:376-385.
25. Brady K, Duff P, Harlass FE, et al. Role of amniotic fluid cytogenetic analysis in the evaluation of recent fetal death. Am J Perinatol. 1991;8:68-70.
26. Khare M, Howarth E, Sadler J, et al. A comparison of prenatal versus postnatal karyotyping for the investigation of intrauterine fetal death after the first trimester of pregnancy. Prenat Diagn. 2005;25:1192-1195.
27. Konstantinidou AE, Anninos H, Dertinger S, et al. Placental involvement in glycogen storage disease type IV. Placenta. 2008;29: 378-381.
28. Schoen E, Norem C, O'Keefe J, et al. Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. Obstet Gynecol. 2003;102:167-172.
29. Reddy UM, Goldenberg R, Silver R, et al. 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.