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A second trimester ultrasound shows IUGR, clenched hands with overlapping fingers, rocker-bottom feet, and a complex cardiac defect. The fetus is noted to have a strawberry-shaped skull.
- Karyotype (female): 47,XX,+18
-
95% full trisomy (maternal nondisjunction)
- Partial trisomy 18 is possible (e.g., if parent is balanced translocation carrier)
- Robertsonian translocations are not a mechanism of disease here (vs trisomy 13 and 21). This is because chromosome 18 is not an acrocentric chromosome (these are chr. 13, 14, 15, 21, 22). Only acrocentric chromosomes can participate in Robertsonian translocations.
- Severe IUGR
- Clenched hands with overlapping digits (index over 3rd, 5th over 4th)
- Rocker-bottom feet
- Cardiac defects (>90%): VSD, ASD, PDA
- Micrognathia, low-set ears
- Omphalocele, renal anomalies
- Prenatal: abnormal ultrasound + positive cfDNA → CVS or amniocentesis → karyotype
- Prenatal: maternal serum screening shows "Everything D'ward" (low β-hCG, estriol, and AFP)
- Postnatal: clinical features + karyotype
- Care planning is guided by goals and prognosis; options range from comfort-focused care to selected interventions
- Cardiology evaluation; cardiac surgery considered case by case after multidisciplinary and family discussion
- Feeding support (nasogastric or gastrostomy) and treatment of apnea and reflux
- Surveillance for and management of associated anomalies (renal, gastrointestinal, hernias)
- Genetic counseling, including parental karyotypes if a translocation is identified
- Median survival: 14 days
- ~10% survive to 1 year
"EEDVvARRD"
- Elongated skull with prominent occiput
- Ears (low set)
- Digits overlap (clenched fist; vs T13, extra digits)
- VSD (90%)
- v = micrognathia ('v' looks like a small chin)
- Apnea
- Rocker bottom feet
- Renal issues
- Deafness