There are a number of tests available to assess your baby’s genetic well-being, and all will be discussed at your first visit. CVS (chorion villous sampling) and Amniocentesis are both invasive options that are almost always reserved for high-risk pregnancies.
A hormonal blood test between 9-11 weeks (first-trimester maternal serum screen) in conjunction with an ultrasound at approximately 12-13 weeks, focusing specifically on the baby’s neck (the nuchal translucency), has 92% predictive sensitivity in assessing for amongst other things, Down Syndrome. A cell-free DNA blood test after 10 weeks (NIPTS) is, in itself, along with the aforementioned 12-week ultrasound, approximately 99.5% accurate in assessing for Down syndrome. However, it is a few hundred dollars more expensive due to its higher degree of accuracy.
Further tests for Cystic Fibrosis, Fragile X syndrome, SMA (spinal muscular atrophy) and some rarer conditions seen in certain populations, such as the Jewish community, are also available and will be discussed.