Evolution of gender options in multiple pregnancy management.

OBJECTIVE: Fetal reduction (FR) in multiples dramatically improves outcomes. We prioritize FR decisions for health and historically declined to factor gender. As male preferences apparently diminished, our bioethicist encouraged a re-evaluation. METHODS: Three hundred ninety-six patients reducing triplets or twins were categorized as 3➔2, 3➔1, and 2➔1, Major (M) anomaly or minor (m) anomaly, same gender (SG), and those for whom gender preference (GP) was possible. Higher order and non chorionic villus sampling were excluded. FR decisions were prioritized by M anomaly, Suspicious, or m anomaly. If neither, we considered GP. RESULTS: Of 319, 214 (67%) had either M/m or SG. Of those, 3➔2 with gender option: 71/79 chose male and female or had no preferences, one chose male/male, and seven chose female/female. We reduced monochorionic twins in 33/35 3➔1 cases. Of 20 with GP choice, 10 chose male and 10 chose female. Of 162 2➔1, 54 had M or m, 50 were SG, but of the 44 M/F twins, 20 chose male and 24 chose female. CONCLUSIONS: There has been a cultural shift mostly preferring one of each or having no preference. When reducing to one, >50% prefer a girl. In addition to identifying abnormalities, chorionic villus sampling before FR expands patient autonomy.

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

Cytogenetic studies of a male child carrying the 22q11.2 deletion common in patients with velo-cardio-facial/DiGeorge syndrome showed an unexpected rearrangement of the 22q11.2 region in his normal appearing mother. The mother carried a 3 Mb deletion on one copy and a reciprocal, similar sized duplication on the other copy of chromosome 22q11.2 as shown by fluorescence in situ hybridization and array comparative genome hybridization analyses. The most parsimonious mechanism for the rearrangement is a mitotic non-allelic homologous recombination event in a cell in the early embryo soon after fertilization. The normal phenotype of the mother can be explained by the theory of genetic dosage compensation. This is the second documented case of such an event for this or any genomic disorder. This finding helps to reinforce this phenomenon in a human model, and has significant implications for recurrence risks for the dose-compensated mother.