In a fetopathologic evaluation of 18 cases with amniotic bands, we discerned 3 types of lesions: (1) constrictive tissue bands, (2) amniotic adhesions, and (3) more complex anomaly patterns, designated as limb-body wall complex (LBWC). Constrictive bands are caused by primary amnion rupture with subsequent entanglement of fetal parts (mostly limbs) by shriveled amniotic strands. Adhesive bands are the result of a broad fusion between disrupted fetal parts (mostly cephalic) and an intact amniotic membrane. Most of the craniofacial defects (encephaloceles and/or facial clefts) occurring in these fetuses are not caused by constrictive amniotic bands, but are the result of a vascular disruption sequence with or without cephalo-amniotic adhesion. Our observations confirm the fact that amnion rupture is not a conditio sine qua non for the development of LBWC. However, LBWC is often complicated by rupture of the unsupported amnion with ensuing formation of constrictive bands. We think that the concept that considers the 3 lesions in question as a single pathogenetic entity is erroneous and will inevitably lead to a never-ending debate between followers of the 2 prevailing theories. In our view, the theories of Streeter and Torpin are not mutually exclusive but rather apply to different types of lesions. The recognition of constrictive amniotic bands, amniotic adhesions, and LBWC as discrete but often combined disruption sequences with important pathogenetic overlap may resolve many dilemmas in interpretation when a fetus exhibits classical constrictive bands beside more severe defects.
Recently developed techniques of video-endoscopic surgery may offer new hope for the future of fetal surgery. To allow this approach, the amniotic cavity has to be temporarily enlarged, either by carbon dioxide (CO2) insufflation or by amnioinfusion. In 6 anesthetized ewes, CO2 insufflation of the amniotic cavity produced severe fetal hypercapnia (from 57.6 ± 1.6 to 87.0 ± 7.0 torr) and acidosis (from 7.22 ± 0.03 to 7.11 ± 0.08) despite normal maternal CO2 pressure and pH. CO2 pneumoamnios does not therefore appear to be an ideal working medium. Fetal endoscopic surgery through amnioinfusion of physiologic fluid may be a safer alternative.
Congenital cystic adenomatoid malformation is a rare developmental abnormality of the lung. In most earlier reported cases, the anatomy of the bronchial tree was poorly documented. We describe four cases studied following autopsy. Post-mortem bronchography or serial microscopical examination showed segmental bronchial absence or atresia in each of them. Our observations provide further evidence pointing to bronchial atresia as being the primary defect leading to the development of congenital cystic adenomatoid malformation. The morphology of the lesion, i.e. the type of malformation, is determined by the extent of dysplastic lung growth beyond the atretic segment. The aetiology of the bronchial atresia is probably heterogeneous and may either represent a primary malformation, or be the result of vascular disruption.
We report on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis (CPL) with bilateral chylothorax. This study demonstrates that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathological finding in spontaneous congenital chylothorax. These observations indicate a common pathogenesis for both disorders. The basic defect is not an intrinsic lung abnormality, but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence. The cause of CPL is heterogeneous. Apparently, most cases are sporadic occurrences. We report the second instance of CPL in sibs. This indicates that some cases are genetically determined with autosomal recessive inheritance. CPL may also be part of a multiple congenital anomalies (MCA) syndrome such as Noonan, Ullrich-Turner, and Down syndrome.
High resolution karyotype in the father and mother were normal. In the father, a deletion in chromosome 22ql 1 was detected by means of FISH, using probe DO832.'FISH was performed on 164 interphase chorionic villus cell nuclei using probe D0832. One signal was detected in 120 (73%), two signals in two (1%), and 42 nuclei (25%) could not be analysed or produced no signal. Only a single analysable metaphase was present, showing a signal in only one of the chromosomes 22. Two control samples from fetuses with a normal karyotype, 100 nuclei each, were analysed in parallel and showed a single signal in 10% and 17%, two signals in 60% and 66%, and no signal in 30% and 17%.Ten additional, unrelated cases of Potter syndrome, caused by an isolated, severe urological malformation, were studied retrospectively by means of FISH, using probe D0832 on metaphase spreads from cultured fibroblasts. In none of these was a del(22ql 1) detectable.
DiscussionThe index patient in this report had the Potter sequence, caused by unilateral renal agenesis and contralateral cystic renal dysplasia. The only associated malformation was the absence of the uterus and upper portion of the vagina, a condition known as the Von Mayer-
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