Living in a Disabled World

Dear Mrs Wood (same mistake!!)

The summary of your examination from 11 August 2008 is as follows:

History:

Maternal age: 39 years.  (note how my age seems to be relevant but previous mc’s not….)

EDD by ultrasound: 26 January 2009.

Gestational age: 16 weeks + 0 days

Anomaly Scan:

Transabdominal US with Aloka 5500.  Ultrasound view: good.

Fetal Measurements (plotted in relation to the normal mean and 5th to 95th centile).

Biparietal Diameter (BPD) 28.0 mm (below average)

Head Circumference (HC) 97.0 mm (below average)

Posterior Ventricle (Vp) 6.0mm

Transcerebellar Diameter (TCD) 12.0 mm (below average)

Cisterna Magna (CM) 3.0 mm (slightly below average)

Nuchal Fold Thickness 13.0 mm

Abdominal Cicumference (AC) 123.0 mm (way above average)

Femur Length (FL) 17.00 mm (5th percentile)

Heart action present. Fetal movements visible.  Presentation breech.  Amniotic fluid: normal. Cord: 3 vessels.  Placenta: posterior high. Not examined.

Fetal anatomy:

The following were visulaised and appear normal:

head, brain, spine, abdominal wall, kidneys and bladder, skeleton

The following structures were not well seen and need to be reviewed at subsequent visit: Face

Abnormal structures:

Thorax: Hydrothorax

Gastrointestinal tract: stomach not examined, liver not examined, spleen not examined, small bowel not examined, large bowel not examined.

Hyperechogenic Bowel

Extremities: possible right sided talipes.

Summary of ultrasound findings: Likely chromosomal abnormality.

We reviewed Samantha again today.

There is still marked generalised oedema with bilateral pleural effusions and ascites.  In addition the fetus is small for gestational age.  The full anatomy check was limited by the gestation but the head shape appeared normal although it was difficult to obtain completely normal views of the posterior fossa.  There is marked oedema around the face but there was no obvious cleft.  I suspect there may be a structural heart abnormality as it was difficult to obtain a normal view of the heart.  The bowel appeareed bright and there is ascites.  The hands appeared normal and opened normally but there may be talipes particularly on the right.

I expained the findings and the concerns regarding an underlying problem (chromosomal, related to a syndrome or major structural abnormalities).  I also explained that there is significant chance that this fetus will not survive the pregnancy whatever the underlying problem.

We discussed the options of 1. do nothing 2. further investigation 3. termination of the pregnancy.  The couple are clear that they would not consider termination of the pregnancy in any event and therefore have decided against any further investigations.  However they are keen at this stage to have a further scan.  I have therefore arranged to see them again in two weeks time.

Rachel Lievling, Consultant in Fetal Medicine.