The cause of ACD has not yet been determined. It was first identified in 1947, and we are aware of 139 cases of ACD worldwide (as of August 2007).

Because so little research has been done on finding the cause and cure for ACD, there is not any scientific evidence to support an answer to this question. We know of eight familial cases of ACD and this may indicate a hereditary basis for ACD but this has not been scientifically proven. Prevailing speculation has been that ACD is Autosomal Recessive, but more recently two cases raise the strong possibility that it may be Autosomal Dominant (see the Learning Series - Part 3 in the Summer 2006 Newsletter for more information about genetic transmission modes which IS ONLY APPLICABLE IF ACD IS GENETIC.) If ACD is Autosomal Recessive, there would be a 1 in 4 (or 25%) chance of having a baby with ACD and a 75% chance of having a healthy child. If it is Autosomal Dominant the chance of having a baby with ACD is 50%. Some diseases inherit in this fashion but still affect less than 50% of the offspring; in that case the disease is termed as being Autosomal Dominant with Incomplete Penetrance.

Yes, the vast majority of families that we know have had subsequent pregnancies that resulted in a healthy baby.

Unfortunately, ACD cannot be detected in utero at this time. Sonograms can detect anomalies associated with ACD (i.e. gastrointestional defects), but evidence of an associated malformation does not confirm the existence of ACD.

Some families notify the doctors and nurses at the hospital about their previous loss and the potential for problems. Several families have had their baby placed in a Neonatal Intensive Care Unit to be monitored and some have an oxygen saturation monitor placed on the baby while at the hospital.

We know of one baby who lived until he was almost nine months old. He presented with problems, though, at two weeks of age, and continued to have problems throughout his life. It is possible to have misalignment of pulmonary veins and also "patchy" cases of ACD, which can affect the severity of the case.

Yes. A team of doctors and scientists at the Baylor College of Medicine in Houston are in a multi-year study to determine whether the cause of ACD is genetic. They are locating new families through the ACDA, GeneTest ®, neonatologists, pathologists, geneticists and genetic counselors. They utilize blood and tissues samples to conduct their research.

Contact:

Partha Sen Ph.D.
Director, CHRC Molecular Core Laboratory
Department of Pediatrics
Baylor College of Medicine
Children's Nutrition Research Center
1100 Bates Street
Houston, TX 77030
Office Phone: (832) 824-4764
Fax: (832) 825-4760
e-mail: Partha Sen

All that is usually required is some information on your family and a blood sample from each family member. Dr. Sen is the lead researcher for the study and can explain in more detail what is required. The more families that participate the better the chances are of finding a cause and cure for ACD.

This question assumes that the cause of ACD has its basis in heredity. Since heredity is not proven, it is premature to answer this question.

The fastest way to get a copy is to go to your local medical library and look up the articles in the medical journals. If you do not have access to a medical library, then you can get a copy from the ACDA - send your request to Steve and Donna Hanson at sdesj@verizon.net.