Antenatal Diagnosis of Patau's Syndrome (Trisomy 13) including a Detailed Pathological Study of the Fetus

Abstract

Summary. The first ever antenatal diagnosis of Patau's syndrome (trisomy 13) during the 19th week of the pregnancy of a 42-year-old woman is reported. Karyotypes were obtained from amniotic fluid cell cultures established at 17 weeks and the results were confirmed by chromosome banding studies and fetal skin cultures. The pregnancy was terminated by hysterotomy and sterilization was performed at the same operation. A detailed description ofthe fetus is included and the pathogenesis of arrhinencephaly is discussed. The current status of antenatal screening for chromosome anomalies is presented.

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

“…Among three cases of complete trisomy 13 ascertained by prenatal diagnosis (Butler et al, 1973;Lawrence et al, 1974; Kim, L. Y. F. Hsu, and K. Hirschhorn, unpublished information) ocular abnormalities were found in only one and polydactyly in one other case. However, scalp defect and/or absence of olfactory bulbs or tracts were found in all three cases.…”

Pattern of malformations in the axial skeleton in human trisomy 13 fetuses

“…There are few systematic studies of trisomy fetuses and most are of small numbers of cases [Marin-Padilla et al, 1964;Butler et al, 1973;Greenberg et al, 1983;Nakazato et al, 1985;McKeown and Donnai, 1986;Fujinaga et al, 1990]. The structures and organs that have been studied in detail are eye changes, cleft lip and palate, cardiac defects, polydactyly, renal changes, and brain malformations.…”

Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-feto protein.

“…Hamerton, Giannelli, and Polani (1965) and others have reported the recurrence of trisomy 21 in more than one member of a family and this is very likely to occur where mother or father are shown to have a D/G translocation. Two different trisomies in successive sibsin a family have been reported only rarely (Laurence, Gregory, and Sharp, 1974;Butler et al, 1973) and it has been suggested that this sequence of events may occur more frequently than reported because of a high fetal loss with trisomy 13. Certainly there is a wide discrepancy between the reported incidence of trisomy 21, 1.5/1000, and trisomy 13, approximately 1/14 500.…”