PubMed · 5074979
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C Lambotte. 1972. [Polygenic heredity].. https://pubmed.ncbi.nlm.nih.gov/5074979/
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Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different types of deformation sequences: one with polyhydramnios, thin skin without dermal ridges, hypotonia, and multiple deformations (hypokinesia sequence), which is most often due to intrinsic problems; another with oligohydramnios, redundant thick skin, and multiple deformations, which can be produced by intrinsic or extrinsic factors; and the third, with normal amniotic fluid volume, which is due to compression of different causes. Deformations of extrinsic cause are more frequently isolated defects and have a better prognosis, while deformations of intrinsic origin are more frequently associated with other congenital anomalies and, generally, have a poor prognosis.
Because of the rapid development of sonography, there are many new informations on embryonal and fetal circulation and pathophysiology of decompensation. Echocardiography is a useful tool to follow intrauterine therapy. Authors have examined the effect of prenatal diagnosis on the prevalence of heart abnormalities, terms of cardiac surgery, perinatal mortality and mortality due to heart abnormalities or decompensation. During five years they have found 187 severe heart abnormalities. Because of parental request 90 pregnancies have been terminated. Following prenatal diagnosis in 16 cases planned surgery of the newborn, in 14 cases planned cesarean sections have been done. From 64 transplacentar treatments 44 patients have survived. Authors have found, that prenatal diagnosis had good effect on short term survival rate but had no effect on long term survival rate. Fetal echocardiography has selective and therapeutic effect. The selective effect depends on second trimester screening. The therapeutic effect was significant in cases of arrhythmias and decompensation.
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