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