First-trimester diagnosis of exencephaly

Article Abstract:

Exencephaly is an defect in the fetus causing part of the brain to form outside of the skull. Ultrasound imaging, which uses high frequency sound to visualize internal structures, when used through the vagina can produce high resolution images of the fetus. A 41-year-old woman had genetic counseling at 10.5 weeks of pregnancy. Ultrasonography applied to the abdomen did not produce images of areas usually seen in the normal fetal brain. Transvaginal ultrasonography was then performed to better visualize the brain's anatomy. Although the volume of brain tissue was normal, it was disorganized. A normal number of chromosomes was revealed by chorionic villi sampling, the removal of fetal tissue for genetic analysis. The ultrasound was repeated and the diagnosis of exencephaly confirmed. The fluid surrounding the fetus contain a higher than normal amount of alpha-fetoprotein, a chemical which is often elevated in cases of fetal abnormality. This abnormality is related to anencephaly, the absence of a brain or spinal cord. It is thought that fetuses with exencephaly progress to anencephaly as the brain continues to degenerate. The diagnosis of exencephaly is usually made later in pregnancy. Early diagnosis can be made with high resolution vaginal ultrasonography. It should be noted that the fetal skull is not calcified until 10 to 11 weeks of fetal gestational age. (Consumer Summary produced by Reliance Medical Information, Inc.)

Usage, Case studies, Brain, Skull, Brain abnormalities, Anencephaly, Prenatal ultrasonography, Ultrasonics in obstetrics

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Transvaginal ultrasonographic findings in surgically verified ectopic pregnancy

Article Abstract:

A ring shaped mass, surrounded by a lighter halo, found during ultrasound examination may indicate an ectopic pregnancy. An ectopic pregnancy is one which occurs outside the main part of the uterus. If it ruptures, it can cause death. The ultrasound results of 69 women with ectopic pregnancies later confirmed by surgery were reviewed by four radiologists. A feature known as an adnexal ring was identified in 36 of the ultrasounds. An adnexal ring appears as a doughnut-shaped mass on the organs adjacent to the uterus, in this case the fallopian tubes or ovaries. Twenty-four of these rings were surrounded by a lighter halo. All 24 of the women who had the halo sign also had tubal pregnancies. Of the twelve ultrasounds with no evidence of a halo, six of the masses were tubal pregnancies, one was a tubal abortion and two were pregnancies implanted in one of the extensions of the uterus. Three other masses that were not ectopic pregnancies did not have the halo sign. The halo sign was associated with 95% of the tubal pregnancies.

Ultrasound imaging, Identification and classification, Pregnancy, Ectopic, Ectopic pregnancy

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Enlarged cisterna magna in trisomy 18: Prenatal ultrasonographic diagnosis

Article Abstract:

Trisomy 18 is a birth defect characterized by an extra number 18 chromosome, resulting in severe retardation and multiple deformities; it occurs in 1 in 3000 births. Prenatal diagnosis can be made by ultrasonography (the use of high frequency sound waves to visualize internal structures), revealing abnormal fetal structures, intrauterine growth retardation and altered volumes of amniotic fluid (the fluid surrounding the fetus). An enlarged cisterna magna, a reservoir for fluid in the brain, was found in five patients. This abnormality is associated with trisomy 18, and may constitute a more specific finding for diagnosis. Early diagnosis permits decision for early termination and effective pregnancy management.

Causes of, Birth defects, Mental retardation, Trisomy

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