FAQs

The ACDA receives many questions from parents who have lost a baby to ACDMPV. Below are answers to some of the most commonly asked questions. It is impossible for the ACDA to know about all the cases of ACDMPV in the world, and we are not medical professionals. Therefore, the following answers are based on our current knowledge of ACDMPV. For a look at statistical information compiled by the ACDA based on families that have registered with the ACDA, please see the summary below (as of June 2015).


Frequently Asked Questions

What causes ACDMPV?
What are the chances of me having another baby with ACDMPV?
Do you know anyone who has gone on to have a healthy child?
Is there anything that can be done during a pregnancy to detect ACDMPV?
What measures should be taken upon birth of a subsequent baby?
What is the longest a baby has survived with ACDMPV?
Is there research being done on ACDMPV?
How can I participate in the ACDMPV study at Baylor?
Do you know if they are close to finding the gene that causes ACDMPV?
How can I get a copy of the articles listed in this website?
Are there any statistics, graphs, charts or other data available that summarizes the ACDA community of registered families?


What causes ACDMPV?
The incidence or prevalence of ACDMPV is not yet known but there are clearly more cases than those that have been reported formally in the medical literature, which as of a May 2011 case review included more than 100 documented cases since ACDMPV was first recognized in the American Journal of Pathology in 1948. The ACDA has grown to close to 200 families from around the world.

For most cases, the cause of ACDMPV is unknown. For additional information, please refer to the information on ACDMPV genetics HERE.

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What are the chances of me having another baby with ACDMPV?
Unfortunately, there is not a definitive answer to that question yet. For additional information, please refer to the information on ACDMPV genetics HERE.

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Do you know anyone who has gone on to have a healthy child?
Yes, the vast majority of ACDA registered families have had subsequent pregnancies resulting in a healthy baby.

For a look at statistical information compiled by the ACDA based on families that have registered with the ACDA, please see the summary below (as of June 2015).

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Is there anything that can be done during pregnancy to detect ACDMPV?
Unfortunately, ACDMPV cannot be definitively detected in utero at this time.  However, there is a prenatal test now available at Baylor Miraca Genetics Laboratories that will detect a mutation in FOXF1 or deletions in chromosome 16 close to FOXF1 (contact Baylor at 1-800-411-4363), which may give a presumptive prenatal diagnosis of ACDMPV if such mutation or deletion is found to be present.

Even in cases without a prior family history of ACDMPV, ultrasounds can sometimes detect anomalies associated with ACDMPV (commonly gastrointestional or heart defects) but evidence of an associated malformation does not confirm the existence of ACDMPV. If an ultrasound detects an extra-pulmonary anomaly associated with ACDMPV, a Chorionic Villus Sampling (CVS) or Amniocentesis can be requested and sent to Baylor Miraca Genetics Laboratories to check for a mutation in FOXF1 or deletions in chromosome 16 close to FOXF1, which may give a presumptive prenatal diagnosis of ACDMPV if such mutation or deletion is found to be present.

Please check the website for a list of FOXF1 – Related Disorders tests available at Baylor Miraca Genetics Laboratories (Click the blue dot to view test details. Red dot = current test.)

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What measures should be taken upon birth of a subsequent baby?
Many 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 for regular monitoring while at the hospital.

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What is the longest a baby has survived with ACDMPV?
There are a handful of cases where the child has lived beyond the time period where classical symptoms of ACDMPV typically present. For a look at statistical information compiled by the ACDA based on families that have registered with the ACDA, please see the summary below (as of June 2015).

It may be possible to have misalignment of pulmonary veins and also atypical or late presenting cases of ACDMPV, which can affect the severity of the case. Classically, ACDMPV is considered a fatal diagnosis, however, some patients have survived with atypical or late presenting ACDMPV long enough to receive lung transplants. According to a 2013 case series conducted by St. Louis Children’s Hospital (the most active pediatric lung transplant program in the world), four ACDMPV patients (ages 4 months, 5 months, 9 months and 20 months of age at time of transplant) with atypical presentations of ACDMPV each underwent a successful bilateral lung transplantation (BLT). As stated in the case study, “If they survive to BLT, patients with ACDMPV can have successful outcomes” and the ACDMPV patients “are alive at last follow-up at 1, 8, 9 and 12 years of age” (as of May 2013). See Case Series Of Infants With Atypical Presentations Of Alveolar Capillary Dysplasia With Misalignment Of The Pulmonary Veins Who Underwent Bilateral Lung Transplantation. White, F., S. Sweet, R. M. Grady, A. Faro, P. Michelson, P. Eghtesady, U. Boston et al. (2013): In: Am J Respir Crit Care Med 187 (2013): A2251. In addition, in 2016, an ACDMPV patient in the UK and a second ACDMPV patient at Children’s Hospital of Philadelphia, Pennsylvania, USA each received a successful bilateral lung transplant at the ages of 5 months and 4 months, respectively.

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Is there research being done on ACDMPV?
Yes. A team of doctors and scientists at the Baylor College of Medicine in Houston are in a multi-year study to determine the genetic causes of ACDMPV. 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.

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How can I participate in the ACDMPV study at Baylor?
For further details on how to participate in the research, please click HERE.

Contact: Pawel Stankiewicz, M.D., Ph.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, BCM 225
Houston, TX, 77030, U.S.A.
Phone: 713-798-5370
E-mail: pawels@bcm.edu
e-mail: Pawel Stankiewicz

All that is usually required is some information on your family and a blood sample from each family member. Dr. Stankiewicz 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 ACDMPV.

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Do you know if they are close to finding the gene that causes ACDMPV?
For the most recent information, please refer to the information on ACDMPV genetics HERE and the latest research update HERE.

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How can I get a copy of the articles listed in this website?
Several full articles are available for free, please click HERE to review. For articles requiring purchase, the fastest way to obtain 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 request a copy from the ACDA – please send your request to the ACDA President at president@acdassociation.org.

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Are there any statistics, graphs, charts or other data available that summarizes the ACDA community of registered families?
STATISTICAL UPDATE (as of June 2015):

It has been about three years since we provided a statistical look at the ACDA community of registered families. The following data is only on families that have registered with the ACDA and DOES NOT  include all reported or known cases of ACDMPV. We hope the charts and reports answer some of your questions and provide insight into ACDMPV.

 

A couple of notes on the data:
a. We are respectful of the privacy of families registered with the ACDA, and if you have requested that certain information not be shared, we suppress it in any data shared with other people (e.g. the ACDA Directory). However, all of the data is used to generate reports and charts because that information is not uniquely identifiable to a specific family.
b. The data is accurate to the best of our knowledge, but we know that some is not current as we have lost contact with several families. However, we believe it is reasonably representative of the ACDA families that have registered.

 

1. How many babies with ACDMPV have been reported to the ACDA? Since the 2012 update, there have been an additional 42 cases bringing the total to 177 live births and 4 unborn. The increasing number of ACDMPV children starting in 2010 could indicate that knowledge and awareness of ACDMPV in the medical community is on the rise and not necessarily that there are more cases.Births Per Year

2. What are the chances that our next child will have ACDMPV? This is the most common question we receive and it is a difficult question to answer as all of the cause(s) of ACDMPV are not known. This data is based on the 178 families in the ACDA database:

Families with one child born with ACDMPV
169
Families* with two children born with ACDMPV
3
Families* with three children born with ACDMPV
2
Families with unborn ACDMPV child
4
Families that had a healthy child after an ACDMPV baby **
84
Families who have not had another child (or not known to us)
94

* A Family is defined as children from the same parents (i.e. re-marrying would be another family).
** Two of the four families that had two ACDMPV babies went on to have a healthy child. The other two families with two ACDMPV babies have not had another child together.

 

3. Does ACDMPV affect males and females equally? The research papers we have seen indicate that ACDMPV affects males and females equally. As the sample size has grown over the years, the data is converging on the 50/50 ratio. The 2010 data was 57% female and 43% male, 2012 showed 52% female and 48% male. Current data shows 51% female and 49% male.
Gender

4. Are ACDMPV babies more likely to be born at certain times of the year? Looking at the ACDA family data, there appears to be a minor trend of more babies born in the Spring, but maybe more children in general are born then. The trend is less pronounced now than in prior charts.Time of Year


5. How long do babies with ACDMPV live? ACDMPV is a fatal disorder unless heart/lung transplant surgery is performed. Transplants are limited by the short time frame available, limited pool of donor organs and need for matching.

ACDMPV often presents itself within a few hours or days while the baby is still in the hospital, but in several cases it has not presented until weeks later. When the symptoms present and the level of care available to an ACDMPV baby affect how long the baby will live. We don’t have specific data on when babies presented with ACDMPV or what levels of care were provided, but the following chart shows that babies live from less than a day to more than a year in several cases.
Length

6. Where do ACDA families live? ACDA families are currently located in 24 countries throughout the world, which is an increase of 8 countries since 2012. The largest groups remain the same since the last chart with approximately 59% in the USA, 11% in the UK and 6% in Canada.
Locations

7. Are there any ACDMPV affected families that live near me? One of the benefits of registering with the ACDA is being able to connect with others that have also experienced the loss of a child to ACDMPV. When you feel all alone and like no one really knows what you’ve been through, communicating with other families can be very healing. The map below shows ACDMPV family locations around the world. See if anyone lives near you to allow more interaction for support or collaboration on a fundraiser. Consult the ACDA directory for more specific contact information. We can email you an updated directory if you need one.

View ACDA Family Locations and Birthdates of Babies in a full screen map

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