Risk of recurrence of fetal chromosomal aberrations: Analysis of trisomy 21, trisomy 18, trisomy 13, and 45,X in 1076 Japanese mothers

Journal of Obstetrics and Gynaecology Research

Volumn 25, Issue 6, 1999, Pages 373-379

  Uehara, Shigeki ^a   Yaegashi, Nobuo ^a   Maeda, Tohru ^b   Hoshi, Nobuhiko ^c   Fujimoto, Seiichiro ^c   Fujimori, Keiya ^d   Yanagida, Kaoru ^d   Yamanaka, Michiko ^e   Hirahara, Fumiki ^f   Yajima, Akira ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

^d FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

Fetal karyotype; Genetic counseling; Germline mosaicism; Maternal age; Numeric chromosomal aberration

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CHROMOSOME MOSAICISM; FEMALE; GENETIC SCREENING; HUMAN; JAPAN; KARYOTYPE; MAJOR CLINICAL STUDY; MATERNAL AGE; NUMERICAL CHROMOSOME ABERRATION; PRENATAL DIAGNOSIS; RECURRENCE RISK; SECOND TRIMESTER PREGNANCY; TRISOMY 13; TRISOMY 18; TRISOMY 21;

EID: 0033372428     PISSN: 13418076     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1447-0756.1999.tb01180.x     Document Type: Article

References (23)

1. Hook EB, Cross PK, Jackson L, Pergament E, Brambati B. Maternal age-specific rates of 47, +21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: Comparison with rates expected from observations at amniocentesis. Am J Hum Genet 1988; 42: 797-807
2. Yaegashi N, Senoo M, Uehara S, Suzuki H, Maeda T, Fujimori K, Hirahara F, Yajima A. Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: Collaborative study of 5484 cases. J Hum Genet 1998; 43: 85-90
3. Hook EB. Chromosome abnormalities: Prevalence, risks and recurrence. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal Diagnosis and Screening. Edinburgh · London · Madrid · Melbourne · New York · Tokyo: Churchill Livingstone, 1992; 20: 351-392
4. Mikkelsen M. Previous child with Down's syndrome and other chromosome aberration. In: Murken JD, Stengel-Rutkowski S, Schwinger E, eds. Prenatal Diagnosis. Stuttgart: Enke, 1979; 22-29
5. Stene J, Stene E. Risk for chromosome abnormality at amniocentesis following a child with a noninherited chromosome aberration. A European collaborative study on prenatal diagnoses 1981. Prenat Diag 1981; 4: 81-95
6. Hsieh FJ, Ko TM, Tseung LH, Chang LS, Pan MF, Chuang SM, Lee TY, Chen HY. Prenatal cytogenetic diagnosis in amniocentesis. J Formosan Med Assoc 1992; 91: 276-282
7. Ryynäen M, Leskinen S, Heinonen S, Kirkinen P. Recurrence risk of a serious, noninherited chromosomal abnormality. Fertil Steril 1997; 68: 439-442
8. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 1994; 49: 175-188
9. Harris DJ, Begleiter ML, Chamberlin J, Hankins L, Magenis RE. Parental trisomy 21 mosaicism. Am J Hum Genet 1982; 34: 125-133
10. Nielsen KM, Poulsen H, Mikkelsen M, Steuber E. Multiple recurrence of trisomy 21 Down syndrome. Hum Genet 1988; 78: 103-105
11. Sachs ES, Jahoda MGJ, Los FJ, Pijpers L, Wladimiroff JW. Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. Am J Med Genet (Suppl.) 1990; 7: S186-S188
12. Seabright M. A rapid banding technique for human chromosome. Lancet 1971; II: 971-972
13. Penrose LS, Smith GF, eds. Down's Anomaly. London: J & A Churchill, 1966; 167-171
14. Beratis NG, Kardon NB, Hsu LYF Grossman D, Hirschhorn K. Parental mosaicism in trisomy 18. Pediatrics 1972; 50: 908-911
15. Fitzgerald PH, Archer SA, Morris CM. Evidence for the repeated primary division (PCD). Hum Genet 1986: 72: 58-62
16. Bass HN, Fox M, Wulsberg E, Sparkes RS, Crandall BF. Trisomy 18 mosaicism: Clues to the diagnosis. Clin Genet 1982; 22: 327-330
17. Mikkelsen M, Aym S. Chromosomal findings in chorionic villi: A collaborative study. In: Vogel F, Sperling K, eds. Human Genetics: Proceedings of the 7th International Congress of Human Genetics Berlin 1986, Berlin: Springer, 1986; 587-606
18. Uehara S, Obara Y Obara T, Funato T, Yaegashi N, Fukaya T, Yajima A. Trisomy 18 mosaicism associated with secondary amenorrhea: Ratios of mosaicism in different samples and complications. Clin Genet 1996; 49: 91-94
19. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: Live birth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983; 64: 24-27
20. Chitty L, Campbell S. Ultrasound screening for fetal abnormalities. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal Diagnosis and Screening. Edinburgh · London · Madrid · Melbourne · New York · Tokyo: Churchill Livingstone, 1992; 34: 595-609
21. Ferguson-Smith MA, Yates JRW. Maternal age-specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52, 965 amniocenteses. Prenat Diag 1984; 4: 5-44
22. Tharapel AT, Tharapel SA, Bannerman RM. Recurrent pregnancy losses and parental chromosome abnormalities: A review. Br J Obstet Gynaecol 1985; 92: 899-914
23. Lockwood DH, Neu RL. Cytogenetic analysis of 1375 amniotic fluid specimens from pregnancies with gestational age less than 14 weeks. Prenat Diagn 1993; 13: 801-805