There are a number of tests available to assess your baby’s genetic wellbeing and all will be discussed at your first visit. CVS (chorion villous sampling) and Amniocentesis are both invasive options which 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 Downs Syndrome, but accordingly, due to its higher degree of accuracy, is a few hundred dollars more expensive.
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.