Skip to content

Posts from the ‘Newborn screening’ Category

Birth Defects: Statistics

A brand new article has been published on U.S. statistics of birth defects. Here is the list of the most common defects:

  • heart and circulatory conditions accounted for a third of the 139,100 hospital admissions for birth defects in 2004 (about 33 percent of all birth defect cases)
  • gastrointestinal defects accounted for nearly 29,000 admissions (about 19 percent)
  • genitourinary birth defects (9 percent)
  • nervous system birth defects (5 percent)
  • others such as cleft palate, hip deformity, sunken chest, skull and facial bone defects, spinal deformity, and foot deformities (34 percent)

The Medical News Today article says:

Between 1997 and 2004, hospital rates increased by over 25 percent for heart and circulatory birth defects and digestive birth defects. Hospitals spent $2.6 billion treating birth defects. Half the cost was for heart and circulatory congenital problems.

So I should learn much more cardiology. I must add that many diseases may not be discovered or treated until adulthood so this article is just about defects recognized in the first year of life.

If you want to read more on the subject, take a look at the National Statistics For 18 Major Birth Defects, a more detailed perinatal statistics page or the birth defects image category at Wikimedia Commons.

A healthy baby at Wikimedia Commons

A crowded womb: 4D Ultrasound

The future of prenatal screening belongs to the 4D scan. It uses the same frequency of sound waves as a normal ultrasound, but the sound waves are directed from many more angles, producing a ‘real-time’ video of the foetus.

London-based obstetrician Professor Stuart Campbell, who is the pioneer of 4D scans in Britain, performed the scans for a National Geographic documentary.

He says: ‘It was fascinating to see the babies in more detail than ever before. I was amazed at the detail in the faces – smiles, blinking – and the interaction between multiple foetuses.’

See many more images and video clips here, or the timeline of fetal growth on the GE Healthcare page.

A new blogterview on the subject is coming soon…

Fantastic four: A silicone model of a quadruplet pregnancy (Courtesy of

Their own placenta and amniotic sac prevent them from touching each other. (Courtesy of


A New Year’s baby’s newborn screening

So good to read something like that. I’m always talking about newborn screening and prevention. I hope to see many more improvements just like this one:

Jaylen Jeremiah Jenkins is a New Year’s baby, and one the first in the state of Georgia to be screened for 28 disorders instead of only 12… And although born a few weeks early, he seems to be a happy and healthy boy. The cost for these new tests is now $40 and is covered by insurance.

The Georgia Newborn Screening Program is now over two decades old. From January 1, 2007, every live born infant must have an adequate blood test for 28 disorders (the most common disorders in the first line, the rarer ones in the other lines):

  • Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Sickle Cell Disorders (SS, SC, S-beta thalassemia), Cystic Fibrosis
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia.

Now, we can see how to improve our system. A really great effort from the state of Georgia.




Get every new post delivered to your Inbox.

Join 39,816 other followers

%d bloggers like this: