This was 20 year old primi , who was sent for routine anomaly scan around 22 weeks of gestation. There was no history of consanguinity. She had undergone 2 scans earlier , one at 7 weeks and another at 9 weeks. In between ,according to the patient she was not advised scan when she went for her ante natal clinical check ups.

The scan revealed anencephaly , which would have been picked up , if  a scan had been done any time after   12 weeks of gestation. That was a depressing thought.

3d images are given below

The heart could not be studied in detail ; the situs appeared to be normal.

The kidneys had horse shoe appearance.

the next is a tomographic ultrasound image.

the fetal spine also appeared abnormal.

This fetus had anencephaly , horse shoe kidneys and abnormal appearance of spine .

Between 13 and 33 percent of infants born with anencephaly have defects of the non-neural organs.

4 to 15 percent of live-born infants with anencephaly have major cardio vascular anomalies –  hypoplastic left-heart syndrome, coarctation of the aorta, persistent truncus arteriosus, pulmonary atresia, single ventricle, and other major septal defects.

2 to 31 percent of infants with anencephaly have other minor developmental abnormalities, such as single umbilical artery, patent ductus arteriosus, and patent foramen ovale.

Generalized hypoplasia of the heart occurs in 4 to 16 percent.

Neural heterotopias, most likely seeded through the amniotic fluid, can occur in the lung. Hypoplastic lungs have been noted in 5 to 34 percent of infants with anencephaly .

Diaphragmatic hernia in 2 to 6 percent, and abdominal-wall defects in 1 to 16 percent.

Gut malrotation has been seen in 1 to 9 percent of such infants.

Major urinary tract malformations include horseshoe kidney (0 to 2 percent), hydronephrosis (1 to 16 percent), polycystic or dysplastic kidneys (1 to 3 percent), and unilateral or bilateral renal agenesis (0 to 1 percent).

Noncranial skeletal defects are common (2 to 60 percent)

. Other defects include the absence of the pituitary in up to 53 percent of infants and hypoplasia of the adrenal glands in as many as 94 percent.

Pancreatic islet-cell hyperplasia is seen in 16 percent.

When multiple anomalies are seen , genetic and chromosomal studies are also probably warranted.

Some personal thoughts  :

this reinforces the need to advise scan periodically at the right time .

when we find something big , we have a tendency to miss others .

Whenever I had seen anencephaly earlier , that would be the end of  my efforts. But looking at the list above , the associated anomalies list is big.

The link given below is an old NEJM article on organ transplant from anencephalus babies.  Can anybody throw more light on it ?

ref : http://www.nejm.org/doi/full/10.1056/NEJM199003083221006