PubMed · 8710624
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H Atherton. Learning disabilities. Expecting a choice.. https://pubmed.ncbi.nlm.nih.gov/8710624/
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A triplet pregnancy in a 23-year-old woman was terminated at 15 weeks of gestation because of her severe hypertension, lung edema, and secondary hyperthyroidism. The pregnancy consisted of a hydatidiform mole with a 46,XY karyotype and two fetuses each with 46,XX and a 46,XY karyotype. To determine the zygosity and genetic origin of the mole and fetuses, PCR- and computer-assisted genotyping were performed at 27 CA-repeat marker loci that were distributed evenly over the genome. As a result, genotypes of the three pregnancy products were distinct from each other, indicating that the triplets were trizygotic. The mole lacked any maternal alleles but inherited both of the paternal alleles and/or one paternal allele in duplicate. This, along with the XY sex chromosome constitution, indicated that the mole resulted from dispermic androgenesis. The mother developed a persistent trophoblastic tumor thereafter.
Varicella syndrome (VS) specific malformations were sonographically seen at 22 weeks and 3 days of gestation. Fetal infection was demonstrated by detection of varicella-zoster virus (VZV) DNA in fetal blood and amniotic fluid by polymerase chain reaction (PCR). Following therapeutic abortion, fetal infection was confirmed by detection of VZV DNA in several fetal tissues and placenta, and by histopathological findings like miliary calcified necroses in fetal organs.
We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.