Acephalus-acardia in twins with aneuploidy

Abstract

Since 1963, 11 cases have been reported in which both the acardiac twin and the "normal" co-twin were studied cytogenetically. Aneuploidy or polyploidy was clearly identified in the acardiac twin in 7 cases and in the co-twin in 1 case. We report on 2 additional twin pairs in which aneuploidy was associated with acephalus-acardia. In both cases the "normal" co-twin had a Klinefelter (47,XXY) karyotype. Chromosome analysis in the 2 acardiac twins documented a 47,XXY constitution in one and 94,XXXXYY anomaly in the other. One of the "normal" co-twins also had the VATER association. Given these data we would recommend chromosome analysis of both members of a twin pair when one has acephalus-acardia.

Abnormal Embryogenesis in the Etiology of Ectopic Pregnancy

“…Therefore we suggest that the chromosomal aberration in the DNA aneuploid cases of ectopic pregnancy is graver than it is in the spontaneous abortions from intrauterine pregnancies. Moreover, in addition to common trisomies, even a totally dearranged severely aneuploid karyotype has been found in intrauter ine fetuses, that is in acardiac monsters [ 19,20], and that type of aneuploidy might correlate with the results in our study.…”

An Acephalus Acardius Amorphous Fetus in a Monochorionic Pregnancy With Sex Discrepancy

“…The mortality rate is around 50% to 75% in the pump twin, mostly due to heart failure, and 100% in the perfused one (Czichos et al, 2005;Fries et al, 1992;Malinowski & Szwalski, 2004;Moore et al, 1990;Rajesh et al, 2004;Torres Borrego et al, 2000). In the case here reported we observed gross dysmorphic features in the malformed twin and extensive vascular anastomoses in the fused placenta, suggesting that the low pressure and hypoxigenated blood which nourished it could explain the extremely severe dismorphic sequence as suggested in previous reports (Buntinx et al, 1991;Cardwell, 1988;Coulam & Wright, 2000;Goh et al, 1994;Kosno-Kruszewska et al, 2003;Malhotra et al, 2004;Moore et al, 1987;Platt et al, 1983;Rajesh et al, 2004;Robie et al, 1989;Sergi et al, 2000;Sharma et al, 1993;Torres Borrego et al, 2000).…”

“…Chromosomal abnormalities have been identified in isolated cases, mainly represented by aneuplodies and poliploidies (Blaicher et al, 2000;Deacon et al, 1980;Masuzaki et al, 2004;Moore et al, 1987). Moreover cases of acardius acephalus in pregnancies obtained through assisted reproduction techniques have been described, as a higher rate of multiple gestations is inherent with some of the adopted procedures (Aytoz et al, 1998;Haring et al, 1993;Martinez-Roman et al, 1995).…”

‘Identical’ twins with discordant karyotypes

“…The TRAP sequence occurs as a consequence of umbilical artery-to-artery anastomoses (Van Allen et al, 1983;Moore et al, 1990;Fisk et al, 1996) and may be considered an extreme form of twin-to-twin transfusion. In about 50 per cent of these TRAP twins the fetus in which the blood flow is reversed, the so-called acardiac monster, is chromosomally abnormal, while the apparently normal co-twin is chromosomally normal (Scott and Ferguson-Smith, 1973;Moore et al, 1987), but blood cells from both fetuses are normal.…”