Abstract

Our center developed the technique of preimplantation genetic diagnosis (PGD) by sequential polar body removal (PBR) for the diagnosis of Mendelian disorders and aneuploidies. This study examines the obstetric and neonatal outcome of the first 109 live births after PGD by PBR. To determine if there were any observable effects of PGD by PBR on perinatal morbidity and mortality, birth defects, and growth parameters. Data on perinatal outcome were gathered for the first 109 infants by parental reporting and confirmed by telephone interview and chart review when indicated. In infants >6 months old, a follow-up telephone interview was performed establishing the developmental milestones attained by the child. A research center conducting an institutional review board-approved research protocol in PGD. All patients who had PGD by PBR who had clinical pregnancies. Gestational age, mode of delivery, perinatal mortality, birth weight, birth length, the presence of birth defects, and developmental milestones. There was no significant decrease in birth length or weight, or the frequency of small for gestational age infants. No specific pattern of birth defects was observed. Thus far, there are no observable detrimental effects of PGD by PBR on children born after the procedure.

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