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Prenatal screening during pregnancy

07 Aug, 2015

Prenatal screening is a pregnancy assessment by ultrasound and biochemical tests in order to detect fetal abnormalities. These tests are non-invasive, consisting of ultrasound and blood tests and do not endanger the life of the fetus and mother.

Why the biochemical and ultrasound screening tests are recommended for detection of fetal abnormalities if you are young, healthy, you have a healthy spouse and you come from families that have not suffered from genetic diseases or malformations:

  • because you can be healthy carriers of some abnormal genes;
  • we live in a polluted environment, with too many teratogens factors;
  • only 30% of fetuses with Down syndrome occur in women of 35 years of age and older, the remaining occur in younger women;
  • Down’s syndrome pregnancies rate is at least 1/800;
  • 5-10% of cases with abnormal pregnancy can evaluate until the term (90% of abnormal pregnancies follow the natural course of nature and stop in the development or end in a miscarriage in the first three months of pregnancy)
  • 20-30% of Down’s syndrome pregnancies do not show major or minor signs on ultrasound (this is why the ultrasound should therefore be accompanied by blood tests)

    Screening tests are performed and represent:

  • in the first trimester of pregnancy: ultrasound performed between the 11 and 14 weeks amenorrhea (assessing the cranio-caudal length, the nuchal translucency, the nasal bone, the ductus venous doppler evaluation, the bladder, the bowel echogenicity etc.) and biochemical screening represented by the double test (which measures the values of some protein in pregnancy (PAPP-A and free beta-hCG in the maternal blood); these values correlated with nuchal translucency and maternal factors can detect up to 95% of Down syndrome cases;
  • in the second trimester: ultrasound and biochemical screening represented by a triple-blood test that measures alpha-fetoprotein values, unconjugated estriol and beta-hCG in maternal blood between 14 to 22 weeks (optimally during 16 to 18 weeks of pregnancy); the values of these elements can detect the presence of Down syndrome in 60-70% of cases and neural tube defects;
  • ultrasound screening in the second quarter (18-22 weeks of gestation) for detecting fetal abnormalities;
  • ultrasound screening in the third quarter (30-32 weeks).

    Important to understand:

  • all screening tests described above are not diagnostic tests, they only select those patients who experience a higher risk of having a fetus with anomalies and which should be investigated invasively by chorionic villus biopsy, amniocentesis, ultrasound-assisted pinned;
  • the major advantages of the tests are the legal possibility of termination of pregnancy in cases of severely malformed fetus or the possibility of birth in a center specialized in the care of newborns with problems;
  • the above mentioned investigations will enable you to enjoy the pregnancy and to deliver a healthy baby.

Irina Uncuță
Doctor – ecographist

(published in 2015)