We report on a case of absent pulmonary valve syndrome in a woman with a history of one healthy child and one child with tetralogy of Fallot with absent pulmonary valve. The diagnosis was missed at the first ultrasound examination performed at 13 + 5 weeks of gestation and correctly diagnosed at 21 + 5 weeks. Re-evaluation of the ultrasound examination recorded at 13 + 5 weeks exhibited severe insufficiency of the pulmonary valve at this time. However, neither dilatation of the right and left pulmonary arteries nor asymmetry of the ventricles were present at that time. The pregnancy was terminated at 22 + 1 weeks of gestation when autopsy confirmed the diagnosis of absent pulmonary valve syndrome. Karyotyping of the fetus after termination of pregnancy revealed normal chromosomes. Echocardiography of the parents and the healthy sibling revealed normal results.
CHARGE association has been diagnosed postnatally in increasing numbers since the first description in 1979. The acronym CHARGE includes the abnormalities ocular Colobomas (iris, retina or nervus opticus), Heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, Ear anomalies and deafness. So far, no prenatal diagnosis of the CHARGE association has been described; only one case report presents prenatal symptoms detected at 31 gestational weeks. In our case, prenatally detected mild cerebral ventriculomegaly and dysplasia of choroid plexus were abnormalities visible as early as 15+6 weeks as well as mild cerebellar hypoplasia at 21+1 weeks. At 28+6 weeks, in addition polyhydramnios could be found. The combination of the ‘benign’ central-nervous findings raised suspicion of a severe congenital malformation at 21+1 weeks which was confirmed postnatally in the form of diagnosis of CHARGE association.
Following the introduction of transvaginal sonography, several first trimester diagnoses of the exencephaly anencephaly sequence have been reported, with the earliest being described at 10 weeks of gestation. We report a case with a high index of suspicion for exencephaly at 9 weeks and 3 days because of three sonographic features: the cranial pole of the embryo was smaller than the chest, the cranial pole bulged dorsally and the surface of the cranium was irregular. The diagnosis was confirmed by a repeat ultrasound examination at 11 + 4 weeks and by autopsy after termination of pregnancy.
Interleukin‐8 (IL‐8), a 72 amino acid peptide secreted by cells of the immune system and of the amnion, chorion and decidua, was measured in women in late pregnancy. IL‐8 was detected in the urine of 91 of 104 women with premature rupture of the fetal membranes, with values exceeding 1000 ng/L in cases of severe intra‐amniotic infection. Women with urinary tract infections were excluded. The routine measurement of IL‐8 in urine, together with C‐reactive protein in serum, thus provides a low risk and technically simple approach to the assessment of intra‐amniotic infection.
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