Table 2

Summary of cases with elevated MSAFP levels

Case number

MSAFP levels (MoM)

Associated findings

1

4.3

Patent ductus arteriosus, patent foramen ovale, dysmorphic skull, low set left ear

2*

2.3

Cystic hygroma, left pleural effusion, cardiac anomalies (unspecified), abnormal limb position, oligohydramnios

3

3.2

Epicanthic folds, hypertelorism, short nose with a long philtrum, hypoplastic toenails

4**

2.9

Cerebral dysgenesis, ascites, cardiac hypertrophy, amputation of both hands and feet, ambiguous external genitalia

5***

2.7

Esophageal atresia, tracheo-esophageal fistula, hemivertebrae, absent septum pellucidum, choroid plexus cyst

6***

2.6

Agenesis of corpus callosum, hypoplastic cerebellum, abnormal cerebrum, down slanting palpebral fissures, microphthalmia, micrognathia, thin distally placed thumbs, esophageal atresia, tracheo-esophageal fistula, C7 hemivertebrae, thoracic scoliosis, abnormal lung lobation, large left liver lobe, bilateral renal dysplasia with hydronephrosis and hydroureters, sacral dimple

7

2.5

None

* Final diagnosis: trisomy 21

** Final diagnosis: amnion disruption sequence

*** Final diagnosis: VACTERL-H syndrome

Szajkowski et al. BMC Pregnancy and Childbirth 2006 6:23   doi:10.1186/1471-2393-6-23