A study published in Haemophilia has identified some characteristics of hemophilia carriers (HCs) that predict the use of diagnostic prenatal tests over routine pregnancy analysis. The HC characteristics include high distress for hemophilia owing to negative childhood experiences, an active coping style, and a high need for certainty.

HCs are known to face psychological challenges around reproduction, and may choose pre-implantation genetic testing (PGT) or for a prenatal diagnosis (PND).

The HC characteristics associated with choosing PGT or PND have not been previously evaluated. For this study, researchers aimed to characterize HC factors, whether cognitive or emotional, that modulate decisions about whether to opt for PGT/PND over routine clinical assessment during pregnancy.

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Overall, 54 patients were enrolled. Among these, the 44% were between the ages of 43 and 49 years, 68% of patients had completed high school only, 81% had a family history of hemophilia, and 63% had a concern for their children’s health.

Analysis of interviews with HCs suggested that those with high distress for hemophilia stemming from a negative childhood experience, based on the illness of at least 1 family member, tended to opt for PGT or PND. Other HC characteristics identified that predicted PGT or PND use included logical compared with emotional reasoning, an active coping style, and a high need for certainty.

“Such results and future researches may help healthcare providers to support HCs decisional processes in the prenatal care domain, with the aim of increase awareness and lighten the emotional burden of decision-making,” the authors wrote in their report.

Disclosures: Some study authors declared affiliations with biotech, pharmaceutical, or device companies. Please see the original reference for a full list of disclosures.


Cutica I, Mortarino M, Garagiola I, Pravettoni G, Peyvandi F. Psychological and cognitive factors involved in decision-making process of haemophilia carriers in reproductive choices. Haemophilia. Published online August 7, 2023. doi:10.1111/hae.14836