Anatomic description of the fetus in utero would permit diagnosis of many birth defects which at present are not defined by biochemical or cellular abnormalities. We have used ultrasonoggraphy for indirect definition and fetoscopy for direct viewing of fetal anatomy in the attempt to establish or exclude the presence of certain morphologic abnormalities in the second trimester.
Three pregnancies at risk for recessively inherited Eilis-van Creveld syndrome were examined with grey scale and real time (B scan) ultrasound to measure limb lenghts, and with fetoscopy to look for polydactyly. In two of the pregnancies limb lengths were normal. Fetoscopy showed a normal foot of the first fetus and a normal hand of the second. The first pregnancy hae given birth to a normal term infant and the second continues without problem. In the third pregnancy a fetal hand with six digits was seen with the fetoscope; in addition, ultrasound lengths of a humerus and femur were significantly shorter (p<.001) than direct postmortem measurements from control fetuses. Ellis-van Creveld syndrome was confirmed after elective abortion.
We examined one pregnancy at risk for recessive tetraphocomelia (Robert syndrome) with ultrasound; limb lengths and movements were normal and the pregnancy continues. Ultrasound measurements of fetal kidney and bladder size were normal in three pregnancies where previous newborns had died with Potter syndrome and aplastic kidneys; two normal infants have been born and one pregnancy continues.
(Sponsor: Leon E. Rosenberg)
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Mahoney, M., Hobbins, J. & Rosenberg, L. APPLICATION OF ULTRASOUND AND FETOSCOPY TO PRENATAL DIAGNOSIS. Pediatr Res 11, 527 (1977). https://doi.org/10.1203/00006450-197704000-00942