20w Anatomy Scan: Early-onset FGR, Short Femur (-3SD), and Mild Ventriculomegaly. Seeking experiences.
Hi everyone,
My wife and I just had our 20w2d anatomy scan and we are spiraling. The MFM specialist found a combination of things that they say are concerning for a "unifying genetic diagnosis," and we’re looking to hear from anyone who has had similar findings or been through the diagnostic process.
The Key Findings:
Fetal Growth Restriction (FGR): Estimated Fetal Weight (EFW) is 238g, which is in the 4th percentile.
Short Femur: This was the biggest red flag. The femur is 3 Standard Deviations below the mean (roughly the 0.1th percentile). There is also a discrepancy between the femur (24.5mm) and foot (30mm).
Mild Ventriculomegaly: The right lateral ventricle measured 11.82mm (cutoff for normal is usually 10mm).
Suboptimal views: Because of the baby’s position, they couldn't clearly see the heart, CSP, or placental cord insert.
The Good News:
Placental function is good: UA Doppler showed positive end-diastolic flow.
Amniotic fluid is normal: (MVP: 4.7cm).
NIPT was Low Risk: Our early screening came back clear for common trisomies.
The Situation:
The doctor was very clinical and immediately brought up the option of termination, which was a huge shock to us since we’ve already decided we want to move forward regardless of the diagnosis. We have zero family history of genetic issues on either side, so we’re struggling to accept that this might be genetic.
We’ve been referred for Genetic Counseling and a follow-up scan in 3 weeks to measure the long bones again and finish the anatomy.
Has anyone here had a combination of short long bones and mild ventriculomegaly? If you did an amniocentesis or microarray, what were your results? We’re trying to understand the range of possibilities—from "constitutionally small" to skeletal dysplasias or rare genetic conditions.
Any advice on how to navigate the next few weeks of waiting would be greatly appreciated.