Indication for Scan and Relevant Clinical History

Indication for scan:

Fetal abnormality.. exomphalos and increased nuchal translucency.

CLINICAL HISTORY:

This 38-year-old patient attended the unit per referral from her local hospital where an exomphalos and increased nuchal translucency measurement were found, during a routine scan.

Gestation from LMP 07.01.1998 with regular 28-day cycles was 12+5 weeks with EDD of 14.10.1998.

She had 2 children (normal vaginal deliveries at term from uncomplicated pregnancies), and enjoyed good health.

ULTRASOUND FINDINGS:

Gestation at ultrasound scan: 12+6 weeks

The CRL dates were 1 week less than LMP dates. The fetal heart rate was on the 5@h centile for gestation.

The bony fetal scull was visualised on crossection and the typical “butterfly” appearance of the developing choroid plexuses noted.

The exomphalos was confirmed in crossectional examination of the fetal abdomen at the level of the cord insertion.

Both the upper and limbs examined on crossectional views of the fetus and longitudinal views appeared abnormally positioned with fixed flexed deformity of the hands and wrists.

Both lower extremities appeared normal on crossectional and longitudinal views.

CLINICAL OUTCOME:

The above mentioned ultrasound findings were discussed in great detail with the parents including the fact that these were highly suggestive of a chromosomal anomaly and most likely trisomy 18, but that these features could also be associated with a genetic syndrome.

The parents were counselled regarding the options of karyotyping (including the various methods risks – maternal and fetal). Including the issues and options surrounding continuing with the pregnancy or the termination thereof.

The parents opted to karyotype the fetus and an uncomplicated CVS was performed.

The karyotype from the CVS culture was 47XY + 18 (trisomy 18 male).

The parents opted to terminate the pregnancy.

A surgical termination of pregnancy was performed at her local hospital.