Prenatal screening

During pregnancy, various tests are available to detect a congenital anomaly in the baby. These tests are called prenatal screening. Comprehensive information, videos, and a decision aid can be found at https://www.pns.nl/prenatal-and-newborn-screening/prenatal-screening. During the appointment with the midwife, we counsel about the different possible tests during pregnancy and provide an opportunity for you to ask questions. Prenatal testing is a choice and is not performed as a standard procedure. We are here to help you make an informed decision.

Screening for chromosomal abnormalities – NIPT

NIPT stands for: non-invasive prenatal test. It is to investigate whether the baby may have Down syndrome, Edwards syndrome, or Patau syndrome, which are chromosomal abnormalities. The test involves taking blood from the mother, possible from 10 weeks of pregnancy. The blood is examined to determine whether the baby’s chromosomes are expected to be normal or abnormal. In NIPT, the mother’s blood is examined, containing cells from the placenta that resemble but are not identical to the baby’s cells. Besides checking for the three syndromes, the test can also detect additional findings, chromosomal abnormalities found incidentally in the baby, placenta, or mother. If NIPT results show no indications of chromosomal abnormalities, no further investigation is needed. If there is a potential chromosomal abnormality, you will be referred to a gynecologist at the AMC hospital or, in the case of additional findings, to a clinical geneticist. They will discuss extensive options for follow-up tests. Since April 1, 2023, NIPT is covered by the national budget, and pregnant individuals do not need to pay for the test.

Screening for physical abnormalities – 13-week and 20-week ultrasound

Screening for physical abnormalities is conducted through ultrasound examinations, not offered at our practice but performed at EchoXpert. You can choose the 13-week and 20-week ultrasounds, both comprehensively examining the baby from head to toe. For example, the sonographer checks the heart, brain, kidneys, and overall baby growth. The placenta, umbilical cord, and the amniotic fluid around the baby are also checked. While ultrasounds can detect many physical abnormalities, chromosomal abnormalities like Down syndrome may not be visible. Occasionally, something seen on the ultrasound may need re-evaluation later in pregnancy for a conclusive diagnosis. The 13-week ultrasound, available since September 2021, is covered by the national budget. Its accuracy in detecting congenital abnormalities is currently under research. Participation in this ultrasound is only possible if you agree to participate in national scientific research about it. The 20-week ultrasound is covered by insurance, and there is no ongoing scientific research. This ultrasound provides a thorough examination, and if something is unclear, a follow-up ultrasound will be scheduled. The 20-week ultrasound also includes checking the baby’s gender if desired.