prenatal diagnostic and treatments

"In terms of diagnostic terms for prenatal medicine, I took a look at the second link. Some ideas:

[x] Imaging modalities used in the prenatal setting include both ultrasound (including echocardiogram) and MRI
[x] Ultrasound can be used to assess amniotic fluid, fetal growth, Dopplers (umbilical, MCA, ductus venous), fetal anatomy, placental anatomy
[x] MRI is primarily for fetal and/or placental anatomy
[x] Diagnostic genetic testing options used are generally karyotype, microarray, targeted testing if a familial variant, single gene testing (rarely, as the phenotype is not usually so clear), gene panels, methylation studies, exome sequencing, genome sequencing
[x] Genetic screening can include expanded carrier screening (focused primarily on identifying parents who are carriers of a disease), preimplantation genetic testing, cell free fetal DNA, and now less commonly things like integrated screening

For consideration moving forward since you mentioned a later goal of diseases with prenatal treatments, here's a short list to start:

[ ] Percutaneous umbilical blood sampling (PUBS) and intrauterine transfusion (IUT) for fetal anemia
[ ] Shunt placement (ie thoracoamniotic shunt) for fetal pleural effusion
[ ] Laser ablation for twin twin transfusion syndrome
[ ] Myelomeningocele repair for fetal myelomeningocele/spina bifida
[ ] Fetoscopic tracheal occlusion for congenital diaphragmatic hernia" List of terms from Teresa Sparks. Adding here so they don't get lost

monarch-initiative / MAxO