Diagnosis Information

What is Trisomy 13?

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Trisomy 13, also called Patau syndrome is a chromosomal disorder caused by a third copy of chromosome 13. It causes severe neurological and heart defects; approximately 80% of children born with this defect die shortly after birth. Infants born with trisomy 13 often have several of the following conditions: heart defects, kidney defects, neurological problems, microcephaly (small head), holoprosencephaly (failure of the brain to divide into halves during development), severe mental deficiency, polydactylism (extra fingers or toes), rocker-bottom feet, microphthalmia (small eyes), malformed nose, and cleft lip and/or cleft palate.The existence of many of these life-threatening medical defects cause many infants with trisomy 13 to […]

Diagnosis Information

What is Thanatophoric Dysplasia?

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Thanatophoric dysplasia is Latin for “death bearing malformation.” It is a skeletal disorder and a most severe form of dwarfism. Infants born with this condition are usually stillborn or die from respiratory failure shortly after birth. There are two types of Thanatophoric Dysplasia: Type I is characterized by abnormally small limbs (micromelia) with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (kleeblattschaedel) of varying severity. Type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity. Features of Thanatophoric Dysplasia include enlarged head (macrocephaly) with large forehead and prominent, wide-spaced eyes, narrow bell-shaped thorax, normal trunk length, […]

Diagnosis Information

What is Spina Bifida?

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The neural tube is embryonic tissue from which the brain and spinal cord develop. Failure to close can result in serious birth defects including spina bifida. There are three main types of spina bifida: spina bifida occulta, meningocele and myelomeningocele. Spina bifida occulta is the most common form and the mildest. One or more vertebrae are malformed and are usually covered by a layer of skin. This form of spina bifida rarely causes disability. Meningocele is where the spinal cord develops normally but the meninges (the protective covering around the brain and spinal cord) protrude from a spinal opening. The protuberances may or may not […]

Diagnosis Information

What is Hydrocephalus?

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Translated from Latin, hydrocephalus means “water on the brain.” This condition is an excessive accumulation of fluid in the brain. The “water” is actually cerebrospinal fluid (CSF) – a clear fluid surrounding the brain and spinal cord. The excessive accumulation of CSF results in an abnormal widening of spaces in the brain called ventricles. This widening creates potentially harmful pressure on the tissues of the brain. Congenital hydrocephalus is present at birth and can be caused by genetic abnormalities or a problem during fetal development. It is one of the most common causes of developmental disabilities. In some cases, such as hydrancephaly and holoprosencephaly, the […]

Diagnosis Information

What is Potter Syndrome?

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Potter syndrome is not technically a syndrome, but kidneys failing to develop properly in the fetus. The kidneys normally produce the amniotic fluid as urine. Lack of amniotic fluid (oligohydramnios) leads to problems associated with Potter syndrome. Oligohydramnios occurs if the volume of amniotic fluid is less than normal for the corresponding period of gestation. This may be due to decreased urine production due to bilateral renal agenesis, obstruction of the urinary tract, or occasionally, premature rupture of the amniotic membranes (PPROM). Fetal urine is also critical to the proper development of the lungs by helping to expand the airways and supplying Proline, a critical […]

Anencephaly

What is Anencephaly?

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Anencephaly is a neural tube defect considered incompatible with life. It occurs when the head end of the neural tube fails to close around the third and fourth weeks of pregnancy. This results in the absence of major portions of the brain, usually the frontal lobe and cerebrum (the portions of the brain responsible for thinking and cognition.) The remaining brain tissue is often exposed, not covered by bone or skin. Most babies with this genetic disorder do not survive and those who do are usually blind, deaf, unconscious, and unable to feel pain. For more information on anencephaly, visit: NINDS – Anencephaly National Institute […]

Diagnosis Information

Down Syndrome: A Closer Look

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  Down syndrome: What Is It? An interactive presentation by YourGenesYourHealth.org Facts About Down syndrome By the National Association for Down Syndrome (NADS) What Is Down syndrome? By the National Institutes of Health; National Institute of Child Health & Human Development (NICHD) Down syndrome Associated Conditions By the National Down Syndrome Society (NDSS) Down syndrome Fact Page By Children’s Hospital of the Kings Daughters, Norfolk, Va. Down syndrome Fact Page By Patient Plus, United Kingdom Down syndrome Mortality/Morbidity By Harold Chen, MD, MS, FAAP, FACMG published by Emedicine.com Down syndrome: Health Issues By Len Leshin, M.D., F.A.A.P. Down syndrome and Alzheimer’s From Better Health Channel […]

Diagnosis Information

What is Trisomy 18?

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Trisomy 18 (Edward’s syndrome) is a relatively common syndrome caused by the presence of an extra number 18 chromosome, which leads to multiple abnormalities including severe mental retardation, digestive problems, heart failure, renal failure, respiratory failure, blindness, deafness and extreme physical limitations. Many of these abnormalities make it hard for infants to live longer than a few months. For more information on Trisomy 18, visit: PubMed Health – Trisomy 18 Genetic Home Reference – What is Trisomy 18 eMedicine – Trisomy 18 MedicineNet – Trisomy 18 (Edward’s syndrome) Ending a Wanted Pregnancy stories involving Trisomy 18 (Edward’s syndrome)