Uptake rate of carrier screening among consanguineous couples.

OBJECTIVE: To quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non-consanguineous couples. METHODS: We performed a matched case control study of 82 consanguineous couples seen at Rutgers-Robert Wood Johnson Medical school who were offered carrier screening between January 1, 2012 and October 10, 2022. We then matched each consanguineous female patient to a non-consanguineous female control patient who was also offered CS at the time of their genetic counseling appointment. A 2 × 2 contingency table analysis was used to compare rates of acceptance and declination between the consanguineous and non-consanguineous groups. RESULTS: The overall acceptance rate among consanguineous couples was 82.9%, whereas the overall acceptance rate among non-consanguineous couples was 56.1%. After statistical analysis, consanguineous couples were significantly more likely to accept CS as compared to non-consanguineous couples (OR = 3.801, 95% CI; p < 0.0001). We also report the carrier couple rates and individual carrier statistics between these two groups. CONCLUSION: This study supports the idea that consanguineous couples are more likely to pursue CS and have a higher carrier couple yield.

The effect of in vitro fertilization treatment on women's voice.

OBJECTIVES: To examine the effect of in vitro fertilization (IVF) treatment on acoustic properties of women's voice. STUDY DESIGN: Prospective case series. METHODS: Ten women undergoing IVF treatment participated in the study. All participants were recorded repeatedly in three successive sessions, before and during treatment, in addition to collecting hormonal assays, endometrial thickness measurements, and follicular growth data. Recordings were performed while sustaining an isolated vowel repeatedly and during a reading task. Acoustic analyses included a limited set of fundamental frequency (F0) measures, as well as frequency- and amplitude perturbation measures. Repeated-measure analyses of variance were performed to test for the treatment effect, and the correlations between the acoustic measures and the hormonal as well as endometrial thickness data were examined. RESULTS: A significant reduction in the two F0 measures and in the amplitude perturbation measure was found throughout the treatment (P<0.05). Before treatment, a negative correlation was found between F0 and estrogen levels. After treatment, however, a negative correlation was found between F0 and endometrial thickness. CONCLUSION: An association was found between IVF treatment and specific voice properties. In addition, the possibility of a ceiling effect for the influence of estrogens on female vocal folds was introduced.