Hydrops fetalis in the McKusick-Kaufman syndrome: a case report

Article Abstract:

Hydrops fetalis is an abnormal accumulation of fluid in the fetal tissues. Most cases are caused by immune abnormalities, but there are nonimmune causes of hydrops, including genetic abnormalities. Fetal or infant death occurs in more than 50 percent of cases where nonimmune hydrops is present. A case is reported is study in which both nonimmune hydrops and McKusick-Kaufman syndrome were present. The latter is a rare genetic disorder characterized by abnormal genitourinary development. A 24-year-old pregnant women was examined with ultrasound, a diagnostic imaging technique that uses high-frequency sound waves. Gestation was at 30 weeks and 4 days when hydrops fetalis was discovered. Eight days later an emergency cesarean section was performed because the hydrops was getting worse. A female infant was delivered whose external genitalia appeared normal, but who had internal urogenital abnormalities upon further examination, suggesting a diagnosis of McKusick-Kaufman syndrome. The child was lost to follow-up at one year of age. The case illustrates an association between nonimmune hydrops of an unexplained cause and a genetic abnormality. Cases of unexplained hydrops should be examined for genetic abnormalities. (Consumer Summary produced by Reliance Medical Information, Inc.)

Usage, Physiological aspects, Prenatal diagnosis, Hydrops fetalis

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Report of National Institute of Child Health and Human Development Workshop on Chorionic Villus Sampling and Limb and Other Defects, October 20, 1992

Article Abstract:

Chorionic villus sampling (CVS) may cause limb deformities in children but the evidence is inconclusive. CVS is a prenatal test used to diagnose genetic abnormalities. A review of the literature finds that there is some association between CVS and certain types of limb deformities. Many of the possible CVS-associated deformities seem to be related to testing performed at earlier than seven weeks' gestation. Additional research should consider the prevalence of limb abnormalities in both CVS-exposed and unexposed infants. Other variables that require further research are the size of the needle or catheter used, the clinician's experience with the procedure and the gestational age of the fetus at the time of testing. Women who are candidates for CVS should be made aware of the possible link between the test and limb deformities.

Extremities (Anatomy), Chorionic villus sampling

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Morphologic changes in offspring of female mice exposed to ethanol before conception

Article Abstract:

Fetuses chronically exposed to alcohol may develop abnormalities. Researchers divided 53 female mice into five groups, with three of the groups receiving ethanol (alcohol) before and after conception, one group receiving Trenimon, which is known to induce birth defects, and the control group. The rate of anatomic abnormalities among fetuses exposed to ethanol was 48%, comparable to the 41% rate among fetuses exposed to Trenimon. Abdominal wall defects were common, suggesting a delay in the development of abdominal organ formation. Alcohol consumption during pregnancy or before conception could lead to fetal death or developmental defects.

Alcohol, Ethanol

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