Diagnosis Information

What is Dandy-Walker Syndrome?

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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 […]

Agenesis of the Corpus Callosum

What is Agenesis of the Corpus Callosum?

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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 […]

Diagnosis Information

What is Triploidy?

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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 […]

Diagnosis Information

What is Cystic Fibrosis?

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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 […]

Diagnosis Information

What is Hypoplastic Left Heart Syndrome?

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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 […]

Diagnosis Information

What is Ventriculomegaly?

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Ventriculomegaly is a condition in which the lateral ventricles of the brain (the fluid-filled spaces) appear larger than normal. It can be detected at the second-trimester ultrasound, and occurs in about one in 1,000 births. There is not a singular cause of ventriculomegaly, but it is common in conjunction with hydrocephalus and several fetal abnormalities. Ventriculomegaly is considered “isolated” when there are no other anomalies present (other than those that are a result of the ventrical enlargement). When ventriculomegaly exceeds 15 mm, there are often other abnormalities present, such as neural tube defects, Chiari malformations, Dandy Walker syndrome, agenesis of the corpus callosum, hydrocephalus or […]

Articles

Genetic Recurrence Risks

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By Helga V. Toriello, Ph.D. While every expectant couple hopes their child will be healthy, approximately 3-4% of couples will have a a child with a serious birth defect or combination of birth defects, called a syndrome, and another 1-3% will have a child with cognitive disabilities. Since prenatal testing is now readily available to parents, many will learn of a serious or life threatening problem during the pregnancy. When a child is born with a genetic condition or one is found prenatally, a referral to a genetics counselor may be made to provide the family with information regarding the diagnosis, prognosis and recurrence risks. […]

Articles

This isn’t about Down syndrome

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By Grace O. Ending a Wanted Pregnancy isn’t about Down syndrome (trisomy 21). This needs to be said, because to hear just about anyone else in the media tell it, all prenatal tests are for diagnosing Down syndrome, and all terminations following poor prenatal diagnosis are because of Down syndrome. When and how did a single chromosomal disorder become the proverbial poster child for all prenatal diagnoses, all medical issues, all life-threatening disorders and all cognitive disorders? When I hear people fantasizing about how they would “never” end a pregnancy for poor prenatal diagnosis, invariably they bring up Down syndrome. They’ll trot out someone they know […]

Diagnosis Information

What is Turner syndrome?

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Turner syndrome is a chromosomal disorder affecting development in girls. It is caused by a missing or incomplete X chromosome. Fetuses with Turner syndrome may exhibit marked growth delays, renal agenesis and olygohydraminos. Turner patients who survive to birth may have skeletal abnormalities, kidney problems and suffer premature ovarian failure. Heart defects are present in 33%-50% of Turner patients. Also common are obesity, diabetes, hypertension and osteoporosis. Many affected girls do not undergo puberty without estrogen hormone therapy. Some milder common affects of Turner syndrome can include short stature, webbed neck, low hairline at the back of the neck and puffiness or swelling. For more […]

Diagnosis Information

What is Trisomy 21 (Down syndrome)?

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Trisomy 21 (Down syndrome) is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21. It is the most frequent genetic cause of mild to moderate cognitive disabilities and is highly associated with several medical conditions including heart defects, congenital hypothyroidism, intestinal problems, hearing loss and vision disorders, and early-onset Alzheimer’s disease. The article Down syndrome, a closer look offers a comprehensive list of links to information on Trisomy 21. For more information on Trisomy 21 visit : NICHD Nation Institute of Child Health & Human Development March of Dimes Foundation Medline Plus U.S. National Library […]