The most common birth defects are Down syndrome, spina bifida, and cleft palate. Many are diagnosed during pregnancy or during the first year of life. Not all birth defects can be prevented, but there are things you can do to lower your risks, like taking folic acid and not smoking.
Routine blood tests and ultrasounds often help detect signs of birth defects during pregnancy. Among the existing protocols are:
- AFP test. This is a blood test that is often done as part of multiple marker screening during the second trimester. AFP stands for alpha fetoprotein, and high levels can indicate many things: neural tube defects, twins, conditions like Down syndrome, or simply a miscalculated date of conception (meaning the fetus is larger than expected).
- Ultrasounds. This is a more accurate way to diagnose physical birth defects, such as cleft palate, neural tube defects, and arm and leg problems. For the mid-pregnancy ultrasound, the problems should be visible.
- Amniocentesis. An amniocentesis is a way of taking a sample of amniotic fluid to check a baby's chromosomes so the doctor can see for sure if there are any abnormalities. It is done in mid-pregnancy and can diagnose hundreds of genetic and chromosomal disorders, such as Down syndrome and cystic fibrosis.
- Chorionic villus sampling (CVS). Like amniocentesis, this test can directly diagnose genetic and chromosomal conditions. It is done before amniocentesis (between 11 and 14 weeks) and takes samples of cells from the placenta.
El Dr. Daniel García, gynecologist and obstetrician at Ginefem, He explains in this video if birth defects can be seen on an ultrasound.
