Down Syndrome Soft Markers Fetal Ultrasound Report Example | Trisomy 21 Aneuploidy Obstetric USG

Ultrasound Report:

Gestational Age: 22 weeks
This detailed fetal anatomy scan was conducted to evaluate the fetus's development and screen for any anomalies. During the examination, several soft markers suggestive of an increased risk for Down syndrome were observed:

Increased Nuchal Fold Thickness: The nuchal fold thickness measured at 6.8 mm, which is above the typical range for the gestational age. This measurement is considered a soft marker for Down syndrome.

Absent Nasal Bone: The fetal nasal bone was not visualized during the ultrasound examination. The absence of the nasal bone at this stage of gestation can be a soft marker for Down syndrome.

Mild Ventriculomegaly: The fetal cerebral ventricles were observed to be mildly dilated, with a measurement of 11 mm. Mild ventriculomegaly can be a soft marker for chromosomal abnormalities, including Down syndrome.

Echogenic Intracardiac Focus: An echogenic focus was detected within the left ventricle of the fetal heart. While often considered a normal variant, an echogenic intracardiac focus can be associated with an increased risk of Down syndrome when observed alongside other markers.

The placenta, amniotic fluid volume, and umbilical cord were evaluated and found to be within normal limits for the gestational age.

Impression & Recommendations:
The presence of multiple soft markers, including increased nuchal fold thickness, absence of the nasal bone, mild ventriculomegaly, and an echogenic intracardiac focus, suggests an increased risk for Down syndrome. It is crucial to emphasize that these markers do not diagnose Down syndrome but indicate a higher probability. Further diagnostic testing is strongly recommended to ascertain the fetal condition. Options include noninvasive prenatal testing (NIPT), chorionic villus sampling (CVS), or amniocentesis. Genetic counseling is advised to discuss the implications of these findings and to assist in decisionmaking regarding further testing.
The parents should be counseled about the findings, potential implications, and the available diagnostic options. A followup appointment should be scheduled to discuss the results of any additional testing and to plan ongoing care.