Q: I am 39 years old and have been attempting pregnancy for 3 years. I am concerned that my age puts me at increased risk for having a baby with Down syndrome if I get pregnant. Is there any way to make sure my baby does not have Down syndrome?
A: This is an excellent question and the answer is yes. Down syndrome, or trisomy 21, which involves an extra chromosome 21, is the most common chromosomal abnormality that occurs in children. Most children have 23 pairs of chromosomes plus paired Xs for girls and an X and a Y for boys. As women age, they are more likely to produce an embryo that has an incorrect number of chromosomes. Most of these abnormal embryos will never lead to a pregnancy which is a major reason that women older than 35 years of age have more difficulty getting pregnant. A few such as trisomy 13 or 18 can lead to pregnancy but most will end as miscarriage.
Preimplantation Genetic Diagnosis (PGD) with Comprehensive Chromosomal Screening (CCS) is a test, which may be utilized to determine if the correct number of chromosomes is present in an embryo. CCS is a fairly new test that checks for all 46 chromosomes in the embryo. This method has been proven to increase pregnancy rates and lower miscarriage rates, unlike older PGD tests which only tested for a few chromosomes. CCS testing requires the patient to utilize an InVitro Fertilization (IVF) treatment cycle. By knowing that an embryo has the correct number of chromosomes, prior to transferring the embryo to the woman’s uterus, will provide the best chance for a healthy child. Contact a reproductive endocrinologist to see if this procedure is right for you. You have attempted on your own, for a significant amount of time, you may want to explore treatment options.