Prenatal Diagnosis

Generalized Arterial Calcification of Infancy (GACI) usually occurs during fetal development. GACI is a rare genetic disease that affects the circulatory system and causes calcium to form in the wall of the arteries.

It is sometimes diagnosed in utero through a routine ultrasound.

An ultrasound may reveal:

  • echogenicity (brightness/whitening) of the major arteries
  • polyhydramnios (excess amniotic fluid)
  • pericardial effusion (fluid around the unborn baby’s heart)

If additional imaging is needed a level 2 ultrasound may be ordered. This is similar to a routine ultrasound but provides a more in-depth evaluation.

Genetic Testing

Genetic testing for GACI can be confirmed through an amniocentesis or chorionic villus sampling (CVS). Genetic testing can also be performed at birth via a blood sample.  If you have previously had a child diagnosed with GACI, prenatal genetic testing via CVS or amniocentesis in subsequent pregnancies can be beneficial in terms of developing an appropriate treatment plan.

Genetic counselors are trained to help families understand genetic disorders and provide information and support.

There are 2 forms of GACI which can be indicated on the genetic test:

Type 1 is caused by mutations in the ENPP1 gene. It is called ENPP1 deficiency.

Type 2 is caused by mutations in the ABCC6 gene. It is called ABCC6 deficiency.

If genetic testing has confirmed a GACI diagnosis, it is recommended to have siblings tested. It is essential to be genetically tested as early as possible for those who could benefit from treatment.  Interestingly, siblings with the same genetic deficiencies can have different clinical presentation of GACI.

Prenatal Treatment

Prenatal treatment for GACI may be an option. A medicine called Etidronate has been used for prenatal treatment.  It is in a class of drugs called bisphosphonates which are routinely used to treat osteoporosis.

Etidronate is an oral medication. It is given to expecting mothers with the potential of minimizing calcium accumulation in the arteries of the unborn baby. In recent years several babies affected by GACI in utero were treated with Etidronate have survived and thrived.

It is vitally important to start prenatal treatment in a timely manner. The goal is to minimize disease progression and improve the baby’s health at birth. Currently, there is a limited supply of Etidronate in some parts of the world.

At this time, there is no curative treatment for GACI. Continued research is needed to determine effective prenatal and postnatal treatment methods.

Prenatal Monitoring

The pregnancy should be monitored closely and managed by a high-risk maternal-fetal obstetrician or perinatologist. Additional specialists may be involved from endocrinology, cardiology, nephrology and genetics.

Monitoring may include regular appointments, in-depth ultrasounds and lab/urine work. There is a possibility a caesarean section (C-section) may be advised if there is fetal distress.

To connect with a family who has experienced prenatal treatment for GACI or if medical contacts are needed, please email GACI Global at info@gaciglobal.org.