Ultrasound screening for fetal chromosomal abnormalities, 11-14 weeks, single-fetal pregnancy (photos included)

Ultrasound screening for chromosomal abnormalities performed between 11 and 14 weeks of pregnancy is a specialized, non-invasive imaging examination designed to identify ultrasound markers associated with an increased risk of chromosomal abnormalities, including Down syndrome, Edwards syndrome and Patau syndrome. These markers, together with biochemical screening, are used to calculate the individual risk. The examination is performed in singleton pregnancies and includes photographs and a CD recording.

Structures assessed:

• Crown-rump length (CRL) — for accurate determination of gestational age.
• Nuchal translucency (NT) — the thickness of the fluid at the back of the fetal neck, an important marker of genetic risk.
• Nasal bone — its absence or hypoplasia is associated with trisomies.
• Doppler blood flow in the ductus venosus and tricuspid regurgitation.
• Early morphological examination — skull, spine, heart, stomach, bladder and limbs.
• Fetal heart — heart rate, position and activity.
• Fetal appendages — umbilical cord, placenta and amniotic fluid.

Purpose of the examination:

• Estimation of the individual risk of chromosomal abnormalities.
• Early detection of structural abnormalities.
• Confirmation of gestational age and fetal viability.
• Risk calculation in combination with biochemical screening (double test).
• Establishment of an individualized prenatal management plan.

Indications

• Any singleton pregnancy between 11 and 13 weeks and 6 days.
• Maternal age over 35 years.
• Family history of genetic disorders or congenital malformations.
• Previously unfavorable screening result.
• Patient's desire for a comprehensive early assessment of fetal risks.

Procedure

The patient is examined transabdominally, and in some cases transvaginally if visualization is limited. CRL, nuchal translucency and other markers are assessed. Precise measurements are performed and fetal structures are evaluated according to FMF (Fetal Medicine Foundation) standards.
Examination duration: 25–40 minutes.
At the end of the examination, printed photographs and a CD containing images/video are provided.

Ultrasound screening at 11–14 weeks of pregnancy is an important examination for the early detection of genetic risks and possible structural abnormalities of the fetus. This examination contributes significantly to accurate prenatal assessment and optimal pregnancy management.

Medical sources:

https://www.ncbi.nlm.nih.gov/books/NBK573070/
https://fetalmedicine.org/fmf-certification-2/nuchal-translucency-scan
https://fetalmedicine.org/fmf-certification-2/nasal-bone
https://fetalmedicine.org/fmf-certification-2/ductus-venosus-flow
https://www.glowm.com/pdf/ultrasound_in_obstetrics_and_gynecology-chapter4.pdf
https://www.isuog.org/static/uploaded/4daa1ea7-bc64-4c24-b81b17df5a684a38.pdf