Trisomy 18 

Lech Dudarewicz, MD, Lucjusz Jakubowski, MD, PhD, Wanda Hawula, M. Sc., Magdalena Kozlowska, M. Sc.

Department of Genetics, Polish Mother"s Memorial Hospital, Lodz, Poland

 

This is a case of a 29-year-old woman with a negative family and environmental exposure history, who was scanned at 20+3 weeks of menstrual age. The fetal biometry was not consistent with the menstrual age. The head biometry matched 16+4 weeks, and AC and FL were equivalent to 17+2 weeks.

The scan showed a sacral spina bifida with thin-walled meningocele with accompanying cranial signs and a suspicion of ventricular septal defect. No other abnormalities were noted; particularly the nuchal fold was normal, the fingers were not overlapping, the facial profile was without marked micrognathia.

Because of the coincidence of the neural tube defect and a possible heart malformation, the amniocentesis was performed at 17 weeks and revealed a trisomy 18.

This case illustrates the need for a detailed search for the markers of fetal aneuploidy in cases of neural tube defects. If the pregnancy had been terminated without karyotyping, the patient would have been advised about the utterly different recurrence risk and prophylactic measures.

Here are some videos that we obtained.