Heterotrisomy recurrence risk: a practical maternal age-dependent approach for excess trisomy 21 risk calculation after a previous autosomal trisomy.
A new maternal age-dependent method to estimate absolute excess risks of trisomy 21, either after a previous trisomy 21 (homotrisomy) or after another trisomy (heterotrisomy), is proposed to be added to the estimated risk by conventional screening methods. Excess risk at term for a subsequent trisomy 21 was calculated from midtrimester risks reported by Morris et al., decreasing from 0.49% at 20 years to 0.01% at 46 years at the index pregnancy. Excess risk after a previous uncommon trisomy was derived from data reported by Warburton et al., decreasing from 0.37% at 20 years to 0.01% at 50 years.
a BCNatal, Department of Maternal-Fetal Medicine, Hospital Clínic Barcelona , Catalonia , Spain.|d CIBER de Enfermedades Raras, Instituto de Salud Carlos III , Spain.
Maribel
M
Grande
a BCNatal, Department of Maternal-Fetal Medicine, Hospital Clínic Barcelona , Catalonia , Spain.
Iosifina
I
Stergiotou
a BCNatal, Department of Maternal-Fetal Medicine, Hospital Clínic Barcelona , Catalonia , Spain.
Virginia
V
Borobio
b BCNatal, Department of Obstetrics and Gynecology, Hospital Sant Joan de Déu. Esplugues de Llobregat , Catalonia , Spain.
Joan
J
Sabrià
c Servei Bioquímica i Genètica Molecular, CDB, Hospital Clinic Barcelona , Catalonia , Spain , and.
Anna
A
Soler
a BCNatal, Department of Maternal-Fetal Medicine, Hospital Clínic Barcelona , Catalonia , Spain.|d CIBER de Enfermedades Raras, Instituto de Salud Carlos III , Spain.
Antoni
A
Borrell
D000328:Adult; D004247:DNA / Q000097:blood; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008423:Maternal Age; D008875:Middle Aged; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis / Q000379:methods*; D012008:Recurrence; D012042:Registries; D018570:Risk Assessment; D055815:Young Adult
D004247:DNA
Homotrisomy; heterotrisomy; recurrence risk