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Cerebellum Case

PATIENT INITIALS AND REFERENCE  A.M. 12460

 Indication for scan and relevant clinical history:

Fetal Abnormality.

 Clinical History:

This 36 year old lady was seen at 20+3 weeks for an abnormal cerebellum and abnormal 4 chamber view found on routine scan at her local hospital.

This was 3rd pregnancy she had two normal children from uncomplicated pregnancies and normal vaginal deliveries.

Her LMP was 19.07.1997 and she was sure of her dates from regular 28 day cycles. EDD   was 25.4.1998. 

Equipment used – Model and Type: Toshiba SSA 240

Transducer – Linear/Sector/other:  5.0 MHz Curvilinear Abdominal

Ultrasound Findings:

Gestation at ultrasound scan: 20+3 weeks  

Number of fetuses:

One

 

Alive:

Yes

 

Presentation:

Cephalic

 

Placenta:

High anterior, Normal ultrasound

 

Amniotic fluid:

Appearance Normal

 

Umbilical cord:

2 vessels

 

 

 

Measurements (Fetal Database)

 

BPD:

53.5mm

Head:

Normal

Fetal Activity:

Normal

OFD:

66.4mm

Brain:

Abnormal

EFW:

385g

TCD:

20.0mm

Spine:

Normal

 

 

CM:

5.4mm

 

 

 

 

HC:

188.3mm

Face:

Abnormal

 

 

AC:

161.Smm

Neck:

Normal

 

 

FL:

33.0mm

Lungs:

Normal

 

 

BPD/OFD:

0.806

Heart:

Abnormal

 

 

HC/AC:

1.164

Abdomen:

Normal

 

 

BPDIFL:

1.621

GIT:

Normal

 

 

Va/H:

0.318

Kidneys:

Abnormal

 

 

Hem:

0.395

Extremities:

Normal

 

 

 

22.3

Genitalia:

Seen (M)

 

 

The fetal growth was normal for the gestation, with normal liquor.

The fetus was found to have a 2 vessel core, abnormal cerebellum and posterior fossa cyst, micrognathia, abnormal 4 chamber cardiac view – with ventricular septal defect and bilateral echogenic kidneys.

CLINICAL OUTCOME:

The patients were counselled that these findings were highly suspect of a chromosomal anomaly most likely Trisomy 13 or 18. They were counselled regarding the possible management options including karyotyping.

Following this the parents opted for diagnostic testing and FBS was performed. A fetal cardiac scan arranged demonstrated a complex cardiac defect: the LV significantly smaller than the RV, VSD hypoplastic aorta and pulmonary vessels.

The fetal karyotype was reported abnormal 4OXYdw(13; 13), +13 unbalanced Robertsonian translocation between two chromosomes 13 resulting in an extra chromosome 13 and Patau’s syndrome.

The parents opted to continue with the pregnancy and an appointment was arranged for them to be seen by a Consultant Paediatrician to discuss postnatal treatment issues.

Karyotyping was also performed on both parents to exclude abnormality – both parents demonstrated normal blood chromosome complements and banding patterns.