Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel‐anatomical collections at the University of Halle, Germany

Abstract

The Anatomical collection of the Department of Anatomy and Cell Biology, Medical School of the University of Halle, Germany, comprises more than 8,000 specimens. Around 600 of them show congenital anomalies. The collection of abnormal human and animal fetuses began as the private collection of Johann Friedrich Meckel the Elder (1724-1774), his son Philipp Friedrich Theodor Meckel (1755-1803) and his grandson Johann Friedrich Meckel the Younger (1781-1833). Meckel the Younger founded the systematic science of developmental pathology. Radiographical techniques, computer tomographic (CT) methods, magnetic resonance imaging (MRI), and comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel-anatomical collections. Cystic hygroma colli was found in five of the human fetuses originally described by JF Meckel the Younger in 1826 and one of his students in 1819 [Hencke, 1819]. CGH analyses were used to test whether the observed cystic hygroma colli could be caused by chromosomal aneuploidies. CGH-ratio profiles of all chromosomes were apparently normal. PCR-based sex determination tests on ancient DNA were used to determine the fetal gonosomal constitution. It is likely that the Meckel specimens are among the oldest fetuses in which Ullrich-Turner "phenotype" has been diagnosed.

Fetal Development in Anatomical Preparations of Ruysch and the Meckels in Comparison

“…For example, regarding hydrocephalus, Meckel the Younger speaks of an inhibition formation (“Hemmungsbildung”), the development of which he tries to explain with an inhibition as a form of a phylogenetic preliminary stage [ 27 , 32 ]. He noted that most primary malformations are anomalies of incomplete development at an embryonic or fetal stage of development [ 34 ]. To describe a hydrocephalus, Meckel the Younger went back to his father’s preparations 84/2/6 and 84/2/7 ( Figure 5 A,B) and described the skull in his Handbuch der pathologischen Anatomie [ 32 ].…”

“…The preparations from the Meckel collections are still used today for teaching and research. For example, specimen 117/4/1 ( Figure 5 C,D) was re-examined from a pathomorphological point of view and was diagnosed as Ullrich–Turner “phenotype” [ 34 , 36 ]. The fetus was described by Meckel the Younger as “foetus tumoribus nuchae” [ 17 ], by which is currently meant a cystic hygroma or benign tumor that appears as a fluid-filled sac often forming in a newborn’s head or neck area.…”