What is CCAM?

Congenital Cystic Adenomatiod Malformation or CCAM is a fluid filled (cystic) or solid mass lung tumor. A CCAM diagnosis can endanger the health of the mother. If the condition results in massive fluid retention (called fetal hydrops or hydrops fetalis) the mother may develop a similar condition (maternal mirror syndrome) and show signs of preeclampsia. Treatment options and outcomes depend on the size and severity of the CCAM lesions, and whether the mother develops maternal mirror syndrome or preeclampsia. Over the course of a pregnancy, the size of the lesions can change dramatically. Serious findings may be discovered via ultrasound such as absence of lung […]

What is Hyperemis Gravidarium?

There is a marked difference between common “morning sickness” and severe Hyperemesis Gravidarium (HG). Hyperemesis Gravidarium can be mild, moderate or severe, but the severe version of this rare and debilitiating pregnancy complication is what we’re concerned with here. In severe Hyperemesis Gravidarium, the mother experiences constant, incapacitating nausea. It can be difficult to control with medications, and may lead to esophageal tears or even stroke. She may suffer weight loss of 10% to 20%. She will require nutritional support, fluids and medications throughout the majority of the pregnancy. Mothers suffering from severe HG are unable to care for themselves and experience malnourishment and exhaustion. […]

What is Amniotic Band Syndrome?

Amniotic bands extend from the inner lining of the amniotic sac. These bands can wrap around the fetus, and sometimes wreak havoc with fetal development. This phenomena may happen sporadically, or as the result of an injury or trauma to the maternal abdomen. No two cases of Amniotic Band Syndrome (ABS) are identical. There may be one band, or several, The affects can be as mild a a shallow crease on limb, or severe enough to deform or amputate digits or limbs (congenital or intrauterine amputation), or constrict tissues to the point of incompatibility with life. When amniotic bands cross the head, face, chest or […]

What is an Encephalocele?

Encephalocele is an uncommon neural tube defect (NTD) affecting brain. It is an opening in the skull where a sac containing brain matter and membranes protrudes. When the neural tube does not completely close during gestation, the result can be an opening in the upper portion of the skull, or between the forehead and nose, or at the back of the skull Encephalocele is associated with problems of the nervous system, and usually comes with other brain and facial deformities. It is estimated that 50% of fetuses with encephalocele survive to birth. This defect occurs more often in females. For more information about Encephalocele, visit: […]

What is Holoprosencephaly?

The forebrain normally develops around fifth or sixth week of pregnancy. In cases of Holoprosencephaly, the forebrain fails to divide into bilateral hemispheres. This results in defects of the brain, as well as facial malformations. Holoprosencephaly falls into three classes: 1. Alobar Holoproencephaly is when the brain does not divided at all. This is usually associated with severe facial deformities. 2. Semilobar Holoprosencephaly is when the brain’s hemispheres have somewhat divided, causes an intermediate form of the disorder. 3. Lobar Holoprosencephaly is when there is more separation between brain hemispheres. This is the least severe form, and the fetal brain may be nearly normal. According […]

What is Dandy-Walker Syndrome?

Dandy-Walker Syndrome is a rare congenital malformation that involves the cerebellum and fourth ventricle. The cerebellum is the portion of the brain controlling balance, posture and the voluntary movement of muscles. While many additional problems may be present, Dandy Walker is recognized by three main features: the agenesis (non-development) or hypoplasia (under-development) of the cerebellar vermis; cystic dilation of the fourth ventricle; and enlargement of the posterior fossa. Medscape.com lists 41 other serious medical conditions commonly associated with a diagnosis of Dandy-Walker Syndrome. These include Hydrocephalus (in 70% -90% of patients, usually developing after birth), Agenesis of the Corpus Callosum (20%-25% of patients), numerous other […]

What is Agenesis of the Corpus Callosum?

Agenesis of the corpus callosum is the failure of the mid-line portion of the brain to develop. This mid-line allows for the left and right hemispheres to communicate with one another. Agenesis can either be partial or full. The prognosis will depend on the severity and extent of the malformations. Typically, agenesis of the corpus callosum is looked for when other brain malformations are detected by ultrasound, and is done so by a fetal MRI. For further information, visit: University of Maine – What is Agenesis of the Corpus Callosum? NINDS – Agenesis of the Corpus Callosum Fetal Treatment Center – Agenesis of the Corpus […]

What is Triploidy?

Triploidy (or Triploid Syndrome) is lethal and extremely rare. It occurs when there is a complete extra set of chromosomes. Instead of the normal 46 chromosomes (23 from each parent), there are 69 total. Two out of three triploidy-affected pregnancies miscarry in the first trimester. Those carried to term often result in stillbirth, although liveborn babies with triploidy have lived for a few hours to a few weeks. Diploid Triploid Mosiacism occurs when some cells have three copies of each chromosome or the abnormal 69 chromosomes (triploid cells) while others have the normal two, for 46 chromsosomes (diploid cells). This mosiacism can be compatible with […]

What is Cystic Fibrosis?

Cystic Fibrosis is an inherited genetic disease that affects the lungs and digestive systems. Approximately 1 in every 2000-3000 babies is born with Cystic Fibrosis each year. A defective gene found on the 7th chromosome changes a protein that regulates the movement of salt in and out of cells, causing the body to produce unusually thick, sticky mucus that can clog the lungs and lead to life threatening lung infections, obstruct the pancreas, and stop the natural enzymes from helping the body break down and absorb food. Cystic Fibrosis does not affect mental faculty. This autosomal recessive genetic disorder requires that both parents possess a […]

What is Hypoplastic Left Heart Syndrome?

Hypoplastic Left Heart Syndrome (HLHS) means left-side ventricle and ascending aorta of the heart are underdeveloped. This severe congenital heart defect prevents the heart from pumping a sufficient amount of oxygenated blood to the body, and is fatal without heart surgery very shortly after birth. While in the womb, a baby with HLHS receives the mother’s oxygenated blood through via patent ductus arteriosus (PDA). The PDA typically closes within hours after birth. Where HLHS is present, the right side of the heart can’t pump blood to the rest of the body once the PDA closes. There are surgical treatments for HLHS including heart transplant, the […]