Fetal genetic ultrasound is a non-invasive genetic test that allows you to assess the risk of genetic defects, such as Down's, Pateau or Edwards' syndromes. It also allows to detect congenital heart defects, neural tube malformations and, among others, cleft palate. When is genetic ultrasound performed? How is the test carried out?

Genetic ultrasoundtonon-invasive prenatal test , which is performed from the 11th week to the 13th week and the 6th day of pregnancy. The examination may be performed if the fetal parietal length is between 45 and 84 mm.

Genetic ultrasound: how is it going?

Genetic ultrasound of the fetus is performed with a transabdominal transducer (only in the case of significant obesity - transvaginal). The ultrasound probe is placed against the abdomen of the lying woman. Before starting the examination, a special gel is applied to the abdomen to increase the ultrasound flow.

Genetic ultrasound: what is it for?

Genetic ultrasound includes a preliminary assessment of all organs of the fetus, but first of all, the doctor assesses the translucency of the nuchal fold (NT) and the presence of the nasal bone (NB). A widening of NT over 2.5 mm indicates that the fetus may have some disease: a chromosomal aberration (e.g. Down, Edwards, Turner syndromes), a heart defect or a defect in another organ. In addition, the doctor, by performing a genetic ultrasound, performs:

  • uterine assessments
  • fetal assessment: head, torso, limbs
  • Fetal Movement Assessment
  • measurement of the head-seat distance and bipolar distance
  • assessment of the heart rate with the calculation of the number of beats per minute
  • venous flow spectrum assessment - Doppler examination - approx. 80 percent of children with Down syndrome have abnormal venous flow
  • assessment of the tricuspid valve in spectral Doppler - about 50 percent of fetuses with Down syndrome have heart defects, this is the third marker for early capture
  • bladder length measurement
  • measuring the length of the jawbone
  • chorionic localization

Genetic ultrasound: what can be detected?

Genetic ultrasound allows you to accurately assess whether a child has a genetic defect such as Down's, Edwards or Turner's syndromes and developmental defects - e.g. a neural tube or a cleft palate. Made after the 20th week of pregnancymay contribute to the detection of congenital heart defects, which are formed by the 43rd day of pregnancy, but only at the end of the fifth month is it large enough to be examined by ultrasound. After 27-28 weeks of gestation, the developing skeleton and lungs make it difficult for the ultrasound to reach the fetal heart.

Genetic ultrasound: reimbursement and price

Genetic ultrasound examination is reimbursed if the referral is issued by a doctor who has a contract with the National He alth Fund. Price without refund: approx. PLN 250.