YOU ARE NOW CONNECTED TO THE TOXLINE (1981 FORWARD, NON-ROYALTY) FILE. ==TRISOMY 13== 1 AUTHOR Barr M Jr TITLE Growth profiles of human autosomal trisomies at midgestation. SOURCE Teratology 1994 Dec;50(6):395-8 ABSTRACT Somatic and visceral growth profiles of midgestation human fetuses with trisomy 21, 18, or 13 demonstrate that each disorder has a characteristic pattern of growth aberration. The most striking deviations are short limbs in trisomy 21, subnormal adrenal and lung weights in trisomy 18, and supranormal spleen and kidney weights in trisomy 13. 5 AUTHOR Feinberg RF AUTHOR Kliman HJ AUTHOR Cohen AW TITLE Preeclampsia, trisomy 13, and the placental bed. SOURCE Obstet Gynecol 1991 Sep;78(3 Pt 2):505-8 ABSTRACT Genetic predisposition and abnormal trophoblastic function are thought to contribute to the development of preeclampsia. A multipara developed severe preeclampsia and subsequently delivered a live growth-retarded infant with trisomy 13. Biopsy of the placental bed taken immediately after delivery demonstrated inadequate trophoblastic remodeling of the maternal uterine vasculature, with an absence of normal physiologic changes in the spiral arteries. This case suggests that fetal trisomy 13 can be associated with preeclampsia in multiparous women and that abnormal trophoblastic invasion may contribute to the pathophysiology. 6 AUTHOR Higurashi M AUTHOR Oda M AUTHOR Iijima K AUTHOR Iijima S AUTHOR Takeshita T AUTHOR Watanabe N AUTHOR Yoneyama K TITLE Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. SOURCE Brain Dev 1990;12(6):770-3 ABSTRACT The results of a survey of the birth prevalence of congenital anomalies among 27,472 consecutive newborn babies at a large maternity hospital in Tokyo are reported. There were 29 cases with trisomy-21; 5 cases with trisomy-13 syndrome; 5 with trisomy-18 syndrome; 2 with cri-du-chat syndrome; and one each with partial monosomy 4p, partial trisomy 5p, partial trisomy 6p, partial trisomy 9p, partial trisomy 9q, partial monosomy 10p, and partial monosomy 13q. Single cases of the following were observed: the Hallermann-Streiff syndrome, the Treacher-Collins syndrome, achondroplasia, arthrogryposis, the Beckwith-Wiedemann syndrome, the asplenia syndrome, the Klippel-Trenaunay-Weber syndrome, the Marfan syndrome, the Carpenter syndrome, the Goldenhar syndrome, and the Pierre Robin syndrome. The results of follow-ups to determine the life-prognosis of each patient with an autosomal aberration are reported. 7 AUTHOR Fujinaga M AUTHOR Shepard TH AUTHOR Fitzsimmons J TITLE Trisomy 13 in the fetus. SOURCE Teratology 1990 Feb;41(2):233-8 ABSTRACT A significant number of fetuses with trisomy 13 are spontaneously or voluntarily lost before birth; however, very few such fetuses have been systemically autopsied. In the present study, ten trisomy 13 fetuses of 130-305 mm in crown-rump length, estimated gestational age from 108 days to 239 days, were examined following either karyotype or ultrasonographic diagnosis and voluntary termination. Mean maternal age was 35.1 years. The spectrum of anatomical features was similar to that observed in neonates or older infants with trisomy 13, namely, holoprosencephaly, cyclopia, microphthalmia, cleft palate and lip, cardiac defect, polydactyly, and cystic kidney. Kidney weights were significantly increased above normal in eight of nine fetuses. Histologically, the cortex of these kidneys showed increased mitotic activity and blastemic appearance, which extended deep into the medullary areas. The weights and histology of other organs were normal except for slight increases in spleen weight. 8 AUTHOR Borovik CL AUTHOR Brunoni D AUTHOR Sato AE AUTHOR Barletta H AUTHOR Dualibi-Casanova L AUTHOR Hironaka HC AUTHOR Brunoni LR AUTHOR Brock R AUTHOR Carvalho LA AUTHOR Costa E de C TITLE Chromosome abnormalities in selected newborn infants with malformations in Brazil [see comments] SOURCE Am J Med Genet 1989 Nov;34(3):320-4 ABSTRACT Between 1982 and 1985, 109 infants were referred for cytogenetic examination out of a population of 73,192 liveborn infants from eight maternity hospitals surveyed by the ECLAMC/MONITOR program. Thirty-one of the children had a chromosome abnormality different from trisomy 21. Considering the total population surveyed, trisomy 18 was detected in 1:6,099; trisomy 13 was seen in 1:24,397 and unbalanced rearrangements were found in 1:7,319 infants. Those rates were not significantly different from the expected ones, as compared to previous cytogenetic surveys of consecutive births. We concluded that most chromosome abnormalities associated with congenital malformations can be detected at low cost, provided there is a high accuracy of clinical examination and referral criteria, as well as close cooperation between pediatricians and geneticists. 32 AUTHOR Harlap S AUTHOR Shiono PH AUTHOR Ramcharan S AUTHOR Golbus M AUTHOR Bachman R AUTHOR Mann J AUTHOR Lewis JP TITLE Chromosomal abnormalities in the Kaiser-Permanente Birth Defects Study, with special reference to contraceptive use around the time of conception. SOURCE Teratology; VOL 31, ISS 3, 1985, P381-7 ABSTRACT Chromosomal abnormalities were studied in 33,551 abortions and births to women whose contraceptive histories had been recorded at their first antenatal visit in 1975-1977. Chromosome examinations were performed exclusively on clinical grounds. There were 45 de novo abnormalities detected (1.34/1,000); three of them were detected at amniocentesis. Trisomy 21 was observed in 27 cases (0.80/1,000), trisomy 18 in nine (0.27), other trisomies in three (0.09), and translocations or deletions in five (0.15). One case of triploidy and six cases of inherited abnormalities were detected. There were no significant racial variations. No increase in risk for chromosomal abnormalities was found among women who had used oral contraceptives prior to becoming pregnant or among women who experienced oral contraceptive breakthrough pregnancies. Two cases of trisomy 18 were observed among the 814 deliveries following oral contraceptive breakthrough conceptions (2.46/1,000), two cases of trisomy 21 occurred in 338 births following failures of rhythm contraception (5.92/1,000), and no cases of trisomy 21 or 18 among the 1,569 women using spermicides at the time of conception.