Limb anomalies following chorionic villus sampling: A registry based case-control study
Corresponding Author
Pierpaolo Mastroiacovo
Birth Defect Unit of the Department of Pediatrics, Catholic University, Rome, Italy
ICARO–ASM, Rome, Italy
Birth Defects Unit, Clinica Pediatrica Policlinico Universitario A. Gemelli, Largo A. Gemelli, 8, 00168 Roma, ITALYSearch for more papers by this authorLorenzo Davide Botto
Birth Defect Unit of the Department of Pediatrics, Catholic University, Rome, Italy
ICARO–ASM, Rome, Italy
Search for more papers by this authorDante Baronciani
Division of Neonatology, Hospital of Lecco, Italy
Search for more papers by this authorAnna Chiara Cigolotti
Department of Pediatrics, University of Torino at Novara, Italy
Search for more papers by this authorSergio Giordano
Division of Pediatrics, Hospital of Verbania, Italy
Search for more papers by this authorFrancesco Puppin
Division of Pediatrics, Hospital of Pordenone, Italy
Search for more papers by this authorCorresponding Author
Pierpaolo Mastroiacovo
Birth Defect Unit of the Department of Pediatrics, Catholic University, Rome, Italy
ICARO–ASM, Rome, Italy
Birth Defects Unit, Clinica Pediatrica Policlinico Universitario A. Gemelli, Largo A. Gemelli, 8, 00168 Roma, ITALYSearch for more papers by this authorLorenzo Davide Botto
Birth Defect Unit of the Department of Pediatrics, Catholic University, Rome, Italy
ICARO–ASM, Rome, Italy
Search for more papers by this authorDante Baronciani
Division of Neonatology, Hospital of Lecco, Italy
Search for more papers by this authorAnna Chiara Cigolotti
Department of Pediatrics, University of Torino at Novara, Italy
Search for more papers by this authorSergio Giordano
Division of Pediatrics, Hospital of Verbania, Italy
Search for more papers by this authorFrancesco Puppin
Division of Pediatrics, Hospital of Pordenone, Italy
Search for more papers by this authorAbstract
Using data from the Italian Multicentric Birth Defect Registry a case–control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro–mandibular–limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age.
These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure. © 1992 Wiley-Liss, Inc.
References
- Bod M, Czeizel A, Lenz W (1983): Incidence at birth of different abnormalities in Hungary 1975–77. Hum Genet 65: 27–33.
- Bavinck JN Bouwes, Weaver DD (1986): Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil and Möbius anomalies. Am J Med Genet 23: 903–918.
- Brent RL (1990): Relationship between uterine vascular clamping, vascular disruption syndrome, cocaine teratogenicity. Teratology 41: 757–760.
- Burton BK, Schulz CJ, Burd LI (1992): Limb anomalies associated with chorionic villus sampling. Obstet Gynecol 79: 726–730.
- Castellan C (1991): Personal communication.
- Christiaens GCM, Van Baarlen J, Huber J, Leschot NJ (1989): Fetal limb constriction: A possible complication of CVS. Prenat Diagn 9: 67–71.
- Cordero JF, Oakley GP Jr, Greenberg F, James LM (1981): Is Bendectin a teratogen? JAMA 245: 2307–2310.
- Dallapiccola B (1992): Personal communication.
- Dolk H, Bertrand F, Lechat MF (1992): Chorionic villus sampling and limb abnormalities. Lancet 339: 876–877.
- Fabris C, Licata D, Garzena E, Gandione M, Mostert M (1992): Porencephalic cyst after chorion villus sampling. Prenatal Diag (in press).
- Firth HV, Boyd PA, Chamberlain P, MacKenzie IZ, Lindenbaum RH, Huson SM (1991a): Severe limb abnormalities after chorion villus sampling at 56–66 days' gestation. Lancet 337: 762–763.
- Firth HV, Boyd PA, Chamberlain P, Mackenzie IZ, Lindenbaum RH, Huson SM (1991b): Limb abnormalities and chorion villus sampling. Lancet 338: 51.
- Froster-Iskenius UG, Baird PA (1989): Limb reduction defects in over one million consecutive livebirths. Teratology 39: 127–35.
- Ghirardini G, Camurri L (1991): Exocoelomic space, limb reduction, and CVS. Lancet 338: 695.
- GIDEF, Italian Group for Embryo—Fetal Diagnosis (1992): CVS and transverse limb defects: A retrospective cohort study (in preparation).
- Grant A, Ayers S, Gosden C, Meade T (1991): Chorion villus sampling. Lancet 338: 750.
- Halliday J, Sheffield L, Danks D, Lumley J (1990): Complete follow-up in assessing fetal losses after chorion villus sampling. Lancet 335: 1156.
- Hoyme HE, Jones KL, Van Allen MI, Saunders BS, Benirschke K (1982): Vascular pathogenesis of transverse limb reduction defects. J Pediatr 101: 839–843.
- Hsieh FJ, Chen D, Tseng LH, Lee CN, Ko TM, Chuang SM, Chen HY (1991): Limb-reduction defects and chorion villus sampling. Lancet 337: 1091–1092.
- Jackson LG, (1991): “ CVS newsletter”. n.31.
- Jackson LG, Wapner RJ, Brambati B (1991): Limb abnormalities and chorionic villus sampling. Lancet 337: 1423.
- Lammer EJ (1992): Personal communication.
- Mahoney MJ (1991): Limb abnormalities and chorionic villus sampling. Lancet 337: 1422–1423.
- Mastroiacovo P, Musacchio P, Bertollini R (1982): L'Indagine Policentrica Italiana sulle Malformazioni Congenite: un progetto collaborativo pilota finalizzato alla sorveglianza delle malformazioni congenite. Prospettive in Pediatria 45: 23–38.
- Mastroiacovo P (1985): The Italian birth defects monitoring system. Progr Clin Biol Res 163B: 17–21.
- Mastroiacovo P, Cavalcanti DP (1991): Limb-reduction defects and chorion villus sampling. Lancet 337: 1091.
- Mastroiacovo P, Cavalcanti DP, Botto LD (1992): Clinical and epidemiologic study of limb reduction defects (in preparation).
- Miny P, Holzgreve W, Horst J, Lenz W (1991): Limb abnormalities and chorionic villus sampling. Lancet 337: 1423–1424.
- Monni G, Ibba RM, Lai R, Olla G, Cao A (1991): Letter to the editor: Limb-reduction defects and chorion villus sampling. Lancet 337: 1091.
- Quintero RA, Romero R, Mahoney MJ, Vecchio M, Holden J, Hobbins JC (1992): Fetal haemorrhagic lesions after chorionic villous sampling. Lancet 339: 193.
- Schloo R, Miny P, Holzgreve W, Horst J, Lenz W (1992): Distal limb deficiency following chorionic villus sampling? Am J Med Genet 42: 404–413.
- Scott R (1991): Limb abnormalities after chorionic villus sampling. Lancet 337: 1038–1039.
- Valente M (1992): Personal communication.