Table I.
Features of conditions of numeric chromosome abnormalities which are associated with HPEa.
Trisomy 13 | Trisomy 18 | Triploidy | |
---|---|---|---|
Prevalence among recognized conceptionsb,c | 1/5,000 | 1/2,000 | 1/22,000 |
Livebirth prevalence b,c | 1/11,000 | 1/7,000 | <1/450,000 |
HPE incidence | Up to 39%d | Rare | Rare |
Median survival for liveborn infants | 7 days | 7 days | <24 hours |
Other cardinal features | Deafness, microcephaly, cleft lip/palate, capillary angiomata, polydactyly, cardiac defects, genital defects | Prominent occiput, clenched hand, with 2nd digit overlapping over 3rd and 5th over 4th, cryptorchidism, congenital heart defects | Large placenta, growth restriction, hypertelorism and eye defects, cardiac, genital defects |
Data summarized from Smith’s Recognizable Patterns of Human Malformations and Carey [2005] except where otherwise noted.
Subtle midline forebrain anomalies appreciable on pathologic examination may occur at an even higher frequency [Moerman et al., 1988].