Pseudoprognathism: an auxiliary ultrasonographic sign for transvaginal ultrasonographic diagnosis of cleft lip and palate in the early second trimester

Article Abstract:

Cleft lip and palate is a congenital facial abnormality. It appears to be caused by a combination of genetic and environmental factors. Fetuses diagnosed with this abnormality often also suffer from other, frequently severe, malformations. Until recently, this abnormality was not detectable early enough in pregnancy to signal the need for evaluation of the fetus for other malformations that might lead to a decision to terminate the pregnancy. This study examined three cases where cleft lip and palate were diagnosed early enough in pregnancy to allow for termination. In all three pregnancies, transvaginal ultrasonography (US) was performed between 14 and 16 weeks of gestation. Results showed each fetus had a protrusion of the mandible that was only detectable on some of the US scans, depending on the plane in which the scan was taken. This type of protrusion or pseudoprognathism was only seen on US sections taken in a sagittal, paramedian plane through the cleft lip and palate. All three pregnancies were terminated and cleft lip and palate was confirmed for all three cases. These cases indicated that pseudoprognathism detected on transvaginal US is useful for the early diagnosis of cleft lip and palate in the fetus. (Consumer Summary produced by Reliance Medical Information, Inc.)

Fetus, Cleft palate, Prenatal ultrasonography, Ultrasonics in obstetrics

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First trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: Diverse prognosis of the septated from the nonseptated lesion

Article Abstract:

Fetal cystic hygroma is a defect, found at birth, in the formation of the lymphatic system (a network of vessels used to protect and maintain internal body fluids), usually around the neck region. This defect may form because the lymphatic system cannot adequately communicate with the venous system, as in normal fetal development. This malformation may cause fetal hydrops (dropsy), an abnormal accumulation of fluid in the infant body which can be fatal. The defect may be associated with other genetic diseases. Of the eight cases reported, five infants died, one by elective abortion because of Down's syndrome, a particular genetic abnormality in the number of chromosomes, one died from trisomy 18 (another chromosomal abnormality), and the others died from fetal hydrops. The three surviving infants were normal. Ultrasonography, the use of high frequency sound to visualize internal structures, revealed the normal fetus to have nonseptated (non-partitioned) cysts while the four resulting in death had septated cysts (partitioned). Early first trimester (first 12 weeks of pregnancy) ultrasound permits diagnosis and recognition of septal and nonseptal hygromas and can be useful in preventing poor fetal outcomes.

Abnormalities, Chromosomes, Trisomy, Lymphatic diseases, Human chromosome abnormalities

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Prenatal diagnosis from cystic hygroma fluid: the value of fluorescence in situ hybridization

Article Abstract:

The prenatal diagnosis of fetal cystic hygroma should include cytogenetic analysis of fluid from the hygroma and fluorescence in situ hybridization to detect chromosomal abnormalities. Cystic hygroma is an abnormality of the lymphatic system that causes fluid-filled cysts.

Prenatal diagnosis

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