Amnion rupture sequence in a first trimester missed abortion

We report the diagnosis of amnion rupture sequence made by sonography and fetoscopy during the first trimester of gestation in a case of missed abortion. The investigation revealed a demised fetus with the characteristics of 9 weeks of development. The early fetus had an amnion adhesion at the tip of the nose and strands of amnion wrapped around the terminal phalanges of both feet. No defects in addition to the face and limb involvement were identified. The karyotype was normal: 46,XX. In the reported case, fetoscopy allowed confirmation of the sonographic diagnosis of an amnion rupture sequence in the first trimester of gestation and consequently helped to clarify the cause of abortion in this case of early fetal demise. Copyright © 2001 John Wiley & Sons, Ltd.     

Detection of fetal cells in transcervical samples and prenatal diagnosis of chromosomal abnormalities

Transcervical samples collected by lavage, aspiration, and cytobrush from women between 6 and 13 weeks of gestation were tested for the presence of fetal cells using fluorescence in situ hybridization (FISH) with probes for chromosomes X, Y, 1, and 21, and by polymerase chain reaction (PCR) amplification of DNA sequences derived from chromosomes X, Y, and 21. With a few exceptions, a good correlation was observed between the results of sexing the fetuses using FISH or PCR on transcervical cell (TCC) samples retrieved by lavage and those obtained by testing fetal (placental) tissue. In a comparative study between TCC samples collected by lavage or cytobrush, the sex of the fetus was correctly diagnosed by PCR amplification of a Y-derived DNA sequence. Variable results were observed with samples obtained by aspiration, mainly because this procedure was found to be more prone to failure to remove thick mucus without previous injection of physiological saline. Chromosome 21-derived small tandem repeats (STRs) of fetal origin were successfully detected in about 40 per cent of TCC samples recovered by lavage. Two cases of chromosomal abnormalities, one of trisomy 21 and one of triploidy, were detected in TCC samples in the course of our investigations.     

Favourable outcome of a tight constriction band secondary to amniotic band syndrome

Amniotic band syndrome or amniotic disruption complex is a well-known congenital limb abnormality, which occurs in 1 in 1200 to 1 in 15 000 live births. In cases of an isolated band constriction, it has been speculated that the bands lead to decreased blood flow in the constricted limb and subsequent natural amputation. Fetal surgery could be considered in these situations in order to release the constriction band in threatened limb amputation. We present a case of a tight constriction ring secondary to amniotic band syndrome with a favourable outcome, despite the failure of an attempted surgical procedure. Copyright © 2004 John Wiley & Sons, Ltd.