Omphalocele

What is Omphalocele?

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Omphalocele is an abdominal wall defect which causes the liver, intestines or other organs to develop outside of the body. In the first 6 to 10 weeks of a normal pregnancy, the intestines push out from the abdomen into the umbilical cord but by week 11 the intestine move back into the abdomen. An omphalocele happens when this fails to occur. In a small omphalocele only some of the intestines develop outside of the abdominal wall. But with a large omphalocele many organs may have developed outside of body, protected only by a thin, transparent sac. Infants born with an omphalocele may not develop an abdominal cavity adequate to […]

Stories

What is Cytomegalovirus (CMV)?

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Cytomegalovirus (CMV) poses a risk to fetal development only when contracted during the first half of pregnancy. Only 40% of these fetuses will develop the infection and of those, only 5 to 15% will have symptoms at birth. In a severely affected fetus, CMV may result in intrauterine growth restriction (IUGR), microcephaly, calcification in the brain, cognitive disabilities, hearing loss, low blood platelet count and liver enlargement. Recurrent maternal CMV infection (a CMV infection contracted before the pregnancy) does not pose serious risks to the fetus.   Centers for Disease Control – CMV Congential Infection Perinatology – Diagnosis & Management of CMV Infection in Pregnancy Mother-to-Baby – Cytomegalovirus (CMV) […]

Diagnoses

What is Achondrogenesis Type II?

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Achondrongenesis Type II is a form of skeletal dysplasia involving short limbs, a small chest with short ribs and underdevelopment of the lungs. It can also involve the failure of spinal and pelvic bones to properly form, and an enlarged abdomen. Facial malformation may include cleft palate, prominent forehead and a small chin. Fetal issues may include hydrops fetalis, the build up of excess fluid in the body. For further information on Achondrogenesis Type II visit: Wikipedia—Achondrogenesis Type 2 OMIM—Achondrogenesis Type II Genetics Home Reference—Achondrogensis     Ending a Wanted Pregnancy stories involving a diagnosis of Achondrogenesis Type II

Diagnoses

What is Oligohydramnios?

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Oligohydraminos is an abnormally low level of amniotic fluid. The development of the fetus’s lungs, digestives system, muscles and limbs depend on amniotic fluid, which allows it to “breath,” swallow, and move around as it grows. The effects of Oligohydraminos depend on the gestational age of the pregnancy. During the first half of pregnancy, complications of Oligohydraminos are most serious and include birth defects caused by the compression o fetal organs, greater possibility of miscarriage, and stillbirth. In the second half of pregnancy, it can cause Interuterine Growth Restriction (IUGR), preterm birth, and labor complications leading to cesarean delivery. Oligohydramnios can be associated with Potter […]

arthrogryposis

What is Arthrogryposis?

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Arthrogryposis multiplex congenita (AMC), or arthrogryposis, involves congenital joint curvature in two or more areas of the body. The name translated from is Greek is literally “Hooking Joints.” It causes abnormal fibrosis of the muscle tissue, resulting in shortened muscles and preventing extending or flexing of the affected joints. There are three types of Arthogryposis: amyoplasia, distal arthrogryposis, and syndromic. Amyoplasia features severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Syndromic is a primary neurological or muscle disease. It may also be called Autosomal Recessive Amyoplasia. For further information, visit: AANEM.org – Arthrogryposis Multiplex Congenita NORD (National Organization of […]

Diagnosis Information

What is CCAM?

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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 […]

Diagnosis Information

What is Hyperemis Gravidarium?

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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. […]

Amniotic Band Syndrome

What is Amniotic Band Syndrome?

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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 […]

Diagnosis Information

What is an Encephalocele?

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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: […]

Alobar Holoprosencephaly

What is Holoprosencephaly?

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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 […]