The risk of giving birth to a baby with trisomy increases with the mother’s age, or if she has already delivered a baby with trisomy. It is possible to screen for risks of the baby developing trisomies 21, 18, 13, X, and Y using Non-Invasive Prenatal Testing or NIPT early on in ...
Other case reports and small series have similarly docu- mented a spectrum of perinatal risks including fetal growth restriction (FGR), preeclampsia, intrauterine fetal demise, and preterm delivery in the setting of MT16 and CPM.5–7,15 These outcomes, as well as cesarean delivery (CD), were...
First-trimester combined screening has a poor positive predictive value (PPV), estimated at approximately 6%,1 and although invasive sampling has recently been reported as carrying low risk of miscarriage,2 these risks are still inherent to the procedure. Cell-free fetal DNA (cfDNA) testing has ...
Ideally, samples from both the placenta and amniotic fluid should be obtained, allowing for the best profiling possible for mosaic cases, but a personalized evaluation should be carried out for the effective need of multiple sampling, given the abortion risks connected to the invasive procedures [...