Table 1 Characteristics and previous reproductive history of the couples proceeding with PND (2017–2022): 205 PNDs in 146 patients
From: Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
Gender of affected partner | n (%) | |
|---|---|---|
Male | 18 (13%) | |
Female | 116 (87%) | |
Unaffected couple (de novo in the first child) | 13 | |
Age at PND intake | Mean in years | Range in years |
Age male | 39 | 20–56 |
Age female | 36 | 19–42 |
Mutation inheritance | n (%) | |
De novo NF1 in the first child | 13 (9%) | |
Sporadic in affected parent | 75 (51%) | |
Inherited in affected parent | 58 (40%) | |
PND sample | n (%) | Range per couple |
Chorionic villus | 181 (88%) | 1–5 |
Amniotic fluid | 24 (12%) | 1–2 |
PND result | n (%) | |
Fetus not carrying the variant | 122 (59%) | |
Fetus carrying the variant | 85 (41%) | |
Pregnancy outcome | n (%) | |
Unaffected child | 119 (57.5%) | |
Affected child | 16 (7.5%) | |
Pregnancy termination (affected fetus) | 69 (33.5%) | |
Miscarriage | 2 (1%) | |
In utero fetal death | 1 (0.5%) | |
