Prenatal diagnosis: detailed chromosomal analysis in 500 cases

Abstract

Cytogenetic findings in 500 amniotic fluid cultures are presented. The problems of mosaicism, fragmentation, polyploidy and hypo-and hyperdiploidy are discussed. A total of 18 abnormal karyotypes was found.

Familial occurrence of chromosome 7/12 translocation

“…All reported cases with translocations identified by banding techniques and diagnosed in utero during the period between 1972 and 1979 (Epstein et al 1972, Galjaard 1976, Philip & Bang 1977, Golbus et al 1979, Polani et al 1979 were reviewed. Among these 97 cases, 83 had a balanced translocation, of which 80 had full-term deliveries with normal phenotypes, one had a therapeutic abortion (Wahlstrom 1974) and the outcome of the other two pregnancies was not reported (Atkins et al 1974). Among the 14 cases of unbalanced translocation, one had a spontaneous abortion (Schmid 1977), six underwent therapeutic abortion (Boue 1976) and one patient delivered an infant with multiple congenital anomalies at the 37th week of gestation (Niermeijer et al 1976).…”

Hazards of amniocentesis: An unidentifiable fragment

“…Amniocentesis poses many technical problems: aneuploidy and mosaicism must still be carefully analyzed; and all structural rearrangements must also be carefully scrutinized with different banding techniques. Fragments occurring in amniotic-fluidcell cultures have rarely been reported and they pose a difficult diagnostic problem (Atkins et al 1974, Milunsky & Atkins 1975.…”

Μελετη Του Μαγνησιου Του Αμνιακου Υγρου Και Του Ορου Του Αιματος Της Μητρος Επι Φυσιολογικων Και Παθολογικων Κυησεων

“…Έξέτασις τής φυλετικής χρωματίνης των επιθηλιακών κυττάρων τοϋ άμνιακοϋ ύγροϋ βοηθεΐ εις τήν διάγνωσιν τοϋ φύλου τοϋ εμβρύου καί των κληρονομουμένων παθολογικών κα ταστάσεων ώς ή αιμοφιλία, ή μυϊκή δυστροφία κ.λ.π. ενώ διά τής καρυοτυπικής αναλύσεως δυνάμεθα νά διαγνώσωμεν χρωματοσωμικάς ανωμαλίας όπως τό σύνδρομον Down καί αλ λάς τρισωμίας (Nadler 1971), (Atkins 1974.…”