How common is trisomy 21 or 13 in pregnancy at age 36?

Question

Hello doctor,

My wife is 12 weeks and three days pregnant, and we did a risk assessment and found that the PAPP-A is low as well as the PlGF. The baby’s FHR was at 176, and the risk assessment says there is a risk of trisomy 21 and 13. My wife is 36 years old. Everything else seems normal regarding the baby's structure, brain, abdomen, and others. My question is how common this is, and is there anything that can be done to improve this, as we are very concerned. We are doing an NIPT test as well.

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

I read your query and can understand your concern.

As you said, your wife is 12 weeks pregnant, and PAPP-A (pregnancy-associated plasma protein A) and PIGF (placental growth factor) are low, which can be concerning but cannot be confirming.

These can be low in some normal pregnancies but might be associated with complications like increased blood pressure in pregnancy, sometimes fetal growth retardation later in pregnancy, or chromosomal abnormalities in some cases.Nothing is causative, but research shows that increased maternal age is one of the risk factors for trisomy 21.Please follow up with your OB-GYN (obstetrician or gynecologist). They might suggest more frequent screenings to keep a check on the health of the baby. That is the only thing we can do right now. If trisomies are confirmed, the decision lies with the parents to either continue or terminate the pregnancy.

I am glad you are going for the screening. I assume you also go for NIPT (non-invasive prenatal testing), which will evaluate the fetal chromosomes. It would be more reassuring for you. Even after we get NIPT results, we might go for some sampling from the placenta and fluid in the baby's cavity to confirm the diagnosis.

I hope this helps.

Thank you, and take care.

Regards.