Risk of recurrence of fetal chromosomal aberrations: analysis of trisomy 21, trisomy 18, trisomy 13, and 45,X in 1,076 Japanese mothers.
OBJECTIVE
To evaluate the risk of recurrence of fetal chromosomal aberrations in women who had offspring with numeric chromosomal abnormalities.


METHODS
This collaborative study consisted of 1,076 Japanese women with a history of offspring with trisomy-21, -18, -13, or 45,X. Second-trimester amniocenteses were performed, resulting in 1,248 fetal karyotypes that were analyzed with reference to prior offspring karyotypes and maternal age.


RESULTS
Of the 842 women with trisomy-21 offspring, 10 conceived another such fetus. In 2 women with 3 or more such offspring, parental mosaicism of trisomy-21 was suspected. The incidence of recurrence of trisomy-21 increased with age, and significantly exceeded the incidence of trisomy-21 fetuses in the general population. None of the 170 women with trisomy-18 offspring, and none of the 46 women with trisomy-13 offspring, had another such fetus. Of the 18 women with 45,X offspring, 1 with mos 45,X/46,XX had another such fetus.


CONCLUSIONS
The risk of recurrence of trisomy-21 is affected by maternal age and parental germline mosaicism. The risk of recurrence of trisomy-18 or -13 appears to be much lower than that of trisomy-21. Women who give birth to more than 1 offspring with 45,X should be examined for mos 45,X/46,XX.
Uehara
S
S
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
Yaegashi
N
N
Maeda
T
T
Hoshi
N
N
Fujimoto
S
S
Fujimori
K
K
Yanagida
K
K
Yamanaka
M
M
Hirahara
F
F
Yajima
A
A
D000328:Adult; D000649:Amniocentesis; D044466:Asian People / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007621:Karyotyping; D008423:Maternal Age; D009030:Mosaicism; D010375:Pedigree; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012008:Recurrence; D012189:Retrospective Studies; D012307:Risk Factors; D014314:Trisomy / Q000235:genetics*; D014960:X Chromosome