Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.

BACKGROUND: Chromosomal-microarray-analysis (CMA) may reveal susceptibility-loci (SL) of varied penetrance for autism-spectrum-disorder (ASD) and other neurodevelopmental conditions. Attitudes of women/parents to disclosure of SL during pregnancy are understudied. METHODS: A multiple-choice questionnaire was distributed to postpartum women. Data were collected on women's interest to receive prenatal genetic information with various levels of penetrance. RESULTS: Women's (n = 941) disclosure choices were dependent on the magnitude of risk: approximately 70% supported disclosure of either full or 40% penetrance, 53% supported disclosure at a 20% risk threshold, and 40% supported disclosure at 10% or less. Although most women supported, rejected or were indecisive about disclosure consistently across all risk levels, nearly one-quarter (24%) varied their responses based on penetrance, and this was associated with religiosity, education, parity and concern about fetal health (p-values <0.04). Among those who varied their choices, the risk threshold was lower among secular women (20%) than among ultraorthodox women (40%). In a multivariable analysis, ultraorthodox women were much less likely to vary their choices on ASD disclosure compared with secular women (aOR = 0.37, p < 0.001). CONCLUSION: Women's attitudes toward disclosure are influenced by the level of risk and their individual characteristics. We therefore encourage engaging women/couples in disclosure decisions regarding uncertain and probabilistic results from prenatal genomic tests.

Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.

BACKGROUND: Advanced prenatal genomic technologies can identify risks for adult-onset (AO) conditions in the fetus, challenging the traditional purpose of prenatal testing. Professional guidelines commonly support disclosure of high-penetrance AO actionable conditions, yet attitudes of women/parents to these findings and factors affecting their attitudes are understudied. METHODS: We explored 941 (77% response rate) postpartum women's attitudes towards receiving prenatal genetic information, and associations of sociodemographic, medical and psychological characteristics with their choices, focusing on AO conditions. RESULTS: Women largely support the disclosure of actionable AO findings (58.4%), in line with professional guidelines. A third of the women also supported the disclosure of non-actionable AO conditions. Stronger religious observance (p < 0.001) and higher psychological distress (p = 0.024) were associated with decreased interest in receiving actionable AO conditions, whereas higher concern for fetal health yielded increased interest (p = 0.032). Attitudes towards disclosure were strongly associated with women's perceived benefit of such information for their own, partner's, and future child's health. Termination of pregnancy based on such information received very little support. CONCLUSION: In-light of the demonstrated understanding of nuanced genetic information and the observed diversity in attitudes, a culturally competent opt-in/out policy could be considered. If full-disclosure is practiced, support should be provided to those expressing higher levels of distress.

[BLUE BABY, PINK FUTURE].

Neonatal cyanosis is relatively common. It is usually a consequence of cyanotic heart disease or a pulmonary disorder, and warrants a thorough and quick investigation. Mutations causing decreased affinity of hemoglobin to oxygen may change α1 to ß2 binding. We describe a new mutation (asp 102 serine), in the γ chain of hemoglobin, causing neonatal cyanosis which resolves as the baby matures. In this case we would like to emphasize the importance of early diagnosis in order to avoid unnecessary disease workup.

Monitoring oxygen saturation and heart rate during neonatal transition. comparison between two different pulse oximeters and electrocardiography.

OBJECTIVE: To compare the efficacy and reliability of two pulse-oximeters (POx) (Masimo Radical-7 and Nellcor™ Oxymax Bedside) and evaluate the feasibility of routine ECG monitoring during delivery room transition. STUDY DESIGN: Prospective observational comparative study. Sixty newborns were connected simultaneously to both POxs and ECG monitor (as a gold standard for HR). Times to achieve a stable signal were compared. Heart rates were compared to simultaneous ECG. RESULTS: A significant difference in times to stable signal was found: Mean, Median (Interquartile range) for Nellcor and Masimo, were 15, 8.5 (6-18) and 27, 12 (9-34) seconds, respectively. Compared to ECG, false bradycardia was displayed in 18 of 55 (35%) newborns by the Masimo POx and in no newborns by the Nellcor POx. Attaching the ECG monitor was feasible but consumed additional resources. CONCLUSIONS: The time for achievement of a stable saturation reading in an uncomplicated resuscitation setting differed significantly between POxs.