(Am J Obstet Gynecol. 2015;212(6):697–710) Fetal anemia is a life-threatening condition that is typically caused by red cell alloimmunization or parvovirus infection, but can also result from a variety of other causes. The purpose of this review was to enumerate the various causes of fetal anemia and outline surveillance options and management strategies. The authors performed a systematic search for relevant articles in the following online databases: MEDLINE, PubMed, EMBASE, and the Cochrane Library, searching for English-language original research articles published between 1966 and May 2014. Reviews, commentaries, evidence reports, and published guidelines were also considered and evaluated using the Grading of Recommendations Assessment, Development, and Evaluation methodology to determine the strength of the findings. The authors synthesized this information into a coherent set of evidence-based guidelines for diagnosis and treatment.

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Monosomy for the short arm of chromosome 18 is one of the most frequent autosomal deletions observed. While most cases result from terminal deletion of 18p, 16% of cases reported were as a result of an unbalanced whole arm translocation resulting in monosomy 18p. The origin and structure of these derivative chromosomes were reported in only a few cases. We report the prenatal diagnosis and characterization of a new case of monosomy 18p as a result of an unbalanced whole arm translocation. Amniocentesis was performed at 15 weeks of gestation on a 34-year-old woman initially referred for advanced maternal age. Holoprosencephaly was identified by ultrasound at the time of amniocentesis. Karyotype analysis showed an unbalanced whole arm translocation between the long arm of one chromosome 18 and the long arm of one chromosome 22, 45,XX,der(18;22)(q10;q10), in all metaphases. In effect, the fetus had monosomy for 18p. Parental karyotypes were normal, suggesting a de novo origin for the der(18;22). Fluorescence in situ hybridization (FISH) analysis was performed with alpha-satellite probes D18Z1 and D14Z1/D22Z1 to identify the origin of the centromere on the der(18;22). Signal was observed with both probes, indicating that the centromere was composed of alpha-satellite DNA from both constituent chromosomes. Genotyping of the fetus and her parents with chromosome 18p STS marker D18S391 showed only the paternal 187 bp allele was present in the fetus, indicating that it was the maternal chromosome 18 involved in the der(18;22). This case and previous reports show that de novo unbalanced whole arm translocations are more likely to retain alpha-satellite sequences from the two chromosomes involved.

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