Neonatal-Perinatal Medicine Specialist Questions Congenital Conditions

Can we see if my baby has a congenital disease in the womb?

I'm in middle of my first trimester of pregnancy, and I'm just wondering if it was possible to see if my baby would have a congenital disease while in the womb?

3 Answers

Not always. Congenital diseases is a broad spectrum of disorders. Some disorders can be diagnosed, but not all of them.
Yes but only the structural problems can be detected by regular OBG care. That means, regular OBG check ups, ultrasound scan in 2nd trimester (also called as anomaly scan) can detect most of the structural problems in the fetus. The vast majority of metabolic diseases cannot be detected by clinical exam and scans. Will need special tests such as cfDNA, amnicentesis and chorionic villous sampling which can diagnose some of these chromosomal and metabolic diseases of the fetus. But most of these tests are invasive tests, will be done only if absolutely indicated and as per the advice of perinatal medicine specialists.
Yes, it is possible to see many forms of fetal heart disease on fetal ultrasound, but not all. If there are concerns, a consultation with a pediatric cardiologist specialist may help.