Table 3 Comparison of OI reproductive options
From: Reproductive options for families at risk of Osteogenesis Imperfecta: a review
Pre-pregnancy testing | |||||
| Â | Genetic Testing | PCS | |||
 Target user | People affected with OI | People with risk of OI (OI family history, consanguinity, founder population origin) | |||
 Advantages | Fast and informative | Fast and informative | |||
 Limitations | VUS; negative results of genetic test | Parental mosaicism; de novo OI; VUS | |||
Fertilisation methods | |||||
| Â | Natural pregnancy | IVF with PGT-M | IVF with donor germ cells | IVF with donor embryo | |
 Genetically related child | Yes | Yes | No | No | |
 Child without OI | Unknown | Yes | Yes | Yes | |
 OI mother’s health challenges | Pregnancy, delivery | Superovulation, pregnancy, delivery | Superovulation, pregnancy, delivery | Pregnancy, delivery | |
 Limitations | PGT-M unavailable, high chance of OI affected pregnancy, de novo variants, variable phenotypic expressivity of OI | De novo variants | De novo variants, PCS need to be done for sex cell donors | De novo variants | |
Prenatal testing | |||||
| Â | NIPT | Ultrasound | CVS | Amniocentesis | Cordocentesis |
 Non-invasive | Yes | Yes | No | No | No |
 Week of gestation | 7th–10th | 20th | 10th–12th | 15th–20th | 22nd-24th |
 Tests foetal abnormalities, OI | Yes | Yes | Yes | Yes | Yes |
 Differs OI 2–3 | No | No | No | No | No |
 Risk of misdiagnosis | Yes (placental mosaicism) | Yes (differential diagnosis) | Yes (placental mosaicism) | No | No |
 Limitations | Unavailable before 7th week of gestation, high mother’s BMI | Unavailable at early gestation weeks | Unavailable at early gestation weeks, risk of miscarriage ~ 1% | Unavailable at early gestation weeks, risk of miscarriage ~ 0.5–1% | Unavailable at early gestation weeks, risk of miscarriage ~ 1–2% |