Impact of the detection and prevention of developmental abnormalities in human studies

Reproductive Toxicology

Volumn 11, Issue 2-3, 1997, Pages 267-269

  Holmes, Lewis B ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DEHYDROGENASE; CHOLINESTERASE; DIHYDROFOLATE REDUCTASE; EPOXIDE HYDROLASE; PORPHOBILINOGEN SYNTHASE; TRANSFORMING GROWTH FACTOR ALPHA;

AMNIOCENTESIS; CONFERENCE PAPER; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; ECHOGRAPHY; ECONOMICS; FEMALE; FETAL ALCOHOL SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; NEURAL TUBE DEFECT; PREGNANCY; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PREVALENCE;

ABNORMALITIES; AMNIOCENTESIS; FEMALE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 0031104641     PISSN: 08906238     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0890-6238(96)00143-8     Document Type: Conference Paper

References (19)

1. Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med. 1989;320:19-23.
2. Gorlin RJ, Toriello HV, Cohen MM Jr. Hereditary hearing loss and its syndromes. New York: Oxford University Press; 1995.
3. Torfs C, van den Berg B, Oecheli F, Cummins S. Prenatal and perinatal factors in the etiology of cerebral palsy. J Pediatr. 1990;116:615-9.
4. Shepard TH, Fantel AG, Fitzsimmons J. Congenital defect rates among spontaneous abortuses: twenty years of monitoring. Teratology. 1989;39:325-31.
5. Eiben B, Bartels I, Bahr-Porsch S, et al. Cytogenetic analysis of 750 spontaneous abortions with direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet. 1990;47:656-63.
6. Limb CJ, Holmes LB. Anencephaly: changes in prenatal detection and birth status, 1972 through 1990. Am J Obstet Gynecol. 1994;170:1333-8.
7. Chan A, Robertson EF, Haan EA, Keane RJ, Ranieri E, Carney A. Prevalence of neural tube defects in South Australia, 1966-91 effectiveness and impact of prenatal diagnosis. Br Med J. 1993;307:703-6.
8. Caruso T, Holmes LB. Down syndrome (DS): increased prenatal detection and dramatic decrease in livebirth, 1972-90. Teratology. 1994;49:376 (abstract).
9. Allan LD, Cook A, Sullivan I, Sharland GK. Hypoplastic left heart syndrome: effects of fetal echocardiography on birth prevalence. Lancet. 1991;337:959-61.
10. Ewigman BG, Crane JP, Frigoletto FD and the RADIUS Study Group. Effect of prenatal ultrasound screening on perinatal outcome. N Engl J Med. 1993;329:821-7.
11. Matsuoka R, Takao A, Kinura M et al. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet. 1994;53:285-9.
12. Sutherland GR, Brown WT, Hagerman R et al. Sixth International Workshop on the Fragile X and X-linked Mental Retardation. Am J Med Genet. 1994;51:281-93.
13. Pang S, Clark A. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening. 1993;2: 105-39.
14. Mills JL, McPartin JM, Kirke PN et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet. 1995;345:149-51.
15. Mills JL, Knopp RH, Simpson JL et al. Lack of relation of increased malformation rates in infants of diabetic mothers to glycemic control during organogenesis. N Engl J Med. 1988;318: 671-6.
16. Holmes LB. Spina bifida: anticonvulsants and other maternal influences. In: 1994 Neural tube defects. Ciba Foundation Symposium 181. Chichester: Wiley; 1994:232-44.
17. Homes LB, Driscoll S, Atkins, L. Etiologic heterogeneity of neural tube defects. N Engl J Med. 1976;294:365-9.
18. Czeizel A, Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med. 1992;327:1832-5.
19. Stoler JM, Brown KS, Ryan L, Peterson CM, Necessary P, Gastfriend D, Holmes LB. Triple marker screening for alcohol use in pregnancy [Abstract]. Alcohol Clin Exp Res. 1994;18:460.