Chromosomal aneuploidy is one of the major causes of pregnancy wastage. In this review we summarize the knowledge about the origin and mechanisms of non-disjunction in human autosomal trisomies 8, 13, 15, 16, 18, and 21, accumulated during the last decade by using DNA polymorphism analysis. Maternal meiosis I non-disjunction is the most important single class, but chromosome-specific patterns exist. For the acrocentric chromosomes 15 and 21, meiosis I errors predominate among the maternal errors, in contrast to trisomy 18 where meiosis II errors predominate. For trisomy 16, virtually all cases are due to maternal meiosis I non-disjunction. Postzygotic (mitotic) non-disjunction constitutes 5-15% of cases of trisomies 15, 18, and 21, whereas for trisomy 8 and trisomy 8 mosaicism the majority of cases are due to mitotic non-disjunction. For paternal non-disjunction of chromosomes 18 and 21, meiosis II or mitotic errors predominate. There is aberrant meiotic recombination associated with maternal meiotic non-disjunction in all trisomies studied in detail so far. Advanced maternal age remains the only well documented risk factor for maternal meiotic non-disjunction, but there is, however, still a surprising lack of understanding of the basic mechanism(s) behind the maternal age effect.

We examined retrospectively the use of ultrasonography in 18 cases in which a true knot of the umbilical cord was found at delivery. All women had a normal second-trimester scan in which no cord abnormality was detected. Thirteen (72%) also had third-trimester color Doppler ultrasonography, at which time the cord anomaly was again missed. In one of these cases the diagnosis could have been made with color flow imaging, but the abnormal pattern was mistaken instead for multiple loops of cord. On the other hand, the diagnosis of true knot was considered prenatally in two cases, but not confirmed at delivery, when only a prominent false knot was found in one and a normal cord in the other. We conclude that true knots of the umbilical cord do not have a characteristic appearance in utero and therefore are easily missed at routine prenatal ultrasonography.

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