Faculty Bibliography

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/CONCLUSIONS:This study supports the idea that consanguineous couples are more likely to pursue CS and have a higher carrier couple yield.

Twins suffer a disproportionately higher burden of adverse perinatal outcomes than singletons. However, the degree to which preterm delivery shapes the relationship between abruption and perinatal mortality in twins is unknown. Through causal mediation decomposition, we examine how preterm delivery mediates the effect of abruption on perinatal mortality among twins using the US-matched multiple birth data (1995-2000). We estimated the hazard ratio (HR) from Cox models with gestational age as the timescale. We decomposed the total effect (TE) into counterfactual natural direct (NDE) and natural indirect (NIE) effects. 557,220 matched twin births, 1.3% (n = 7032) resulted in abruption with higher perinatal mortality rates than non-abruption births (143 versus 36 per 1000 births, respectively) and a 4.53-fold (95% confidence interval [CI]: 4.23, 4.82) increased hazard of perinatal mortality. HRs for NDE and NIE were 3.05 (95% CI: 2.84, 3.24) and 1.49 (95% CI: 1.49, 1.47, 1.50), respectively, and the proportion mediated (PM) was 41%. PM increased as the gestational age at delivery decreased. Associations persisted after correction for unmeasured confounders. The best strategies to improve perinatal delivery are delivery when abruption complicates twin pregnancies at term gestations and expectant management (avoiding early preterm delivery), if feasible, when abruption complicates twin pregnancies at preterm gestations.

BACKGROUND/UNASSIGNED:Reports of high and rising maternal mortality ratios (MMR) in the United States have caused serious concern. We examined spatiotemporal patterns in cause-specific MMRs, in order to obtain insights into the cause for the increase. METHODS/UNASSIGNED:The study included all maternal deaths recorded by the Centers for Disease Control and Prevention from 1999 to 2021. Changes in overall and cause-specific MMRs were quantified nationally; in low-vs high-MMR states (i.e., MMRs <20 vs ≥26 per 100,000 live births in 2018-2021); and in California vs Texas (populous states with low vs high MMRs). Cause-specific MMRs included those due to unambiguous causes (e.g., selected obstetric causes such as pre-eclampsia/eclampsia) and less-specific/potentially incidental causes (e.g., "other specified pregnancy-related conditions", chronic hypertension, and malignant neoplasms). FINDINGS/UNASSIGNED:MMRs increased from 9.60 (n = 1543) in 1999-2002 to 23.5 (n = 3478) per 100,000 live births in 2018-2021. The temporal increase in MMRs was smaller in low-MMR states (from 7.82 to 14.1 per 100,000 live births) compared with high-MMR states (from 11.1 to 31.4 per 100,000 live births). MMRs due to selected obstetric causes decreased to a similar extent in low-vs high-MMR states, whereas the increase in MMRs from less-specific/potentially incidental causes was smaller in low- vs high-MMR states (MMR ratio (RR) 5.57, 95% CI 4.28, 7.25 vs 7.07, 95% CI 5.91, 8.46), and in California vs Texas (RR 1.67, 95% CI 1.03, 2.69 vs 10.8, 95% CI 6.55, 17.7). The change in malignant neoplasm-associated MMRs was smaller in California vs Texas (RR 1.21, 95% CI 0.08, 19.3 vs 91.2, 95% CI 89.2, 94.8). MMRs from less-specific/potentially incidental causes increased in all race/ethnicity groups. INTERPRETATION/UNASSIGNED:Spatiotemporal patterns of cause-specific MMRs, including similar reductions in unambiguous obstetric causes of death and variable increases in less-specific/potentially incidental causes, suggest misclassified maternal deaths and overestimated maternal mortality in some US states. FUNDING/UNASSIGNED:This work received no funding.

BACKGROUND:National Vital Statistics System reports show that maternal mortality rates in the United States have nearly doubled, from 17.4 in 2018 to 32.9 per 100,000 live births in 2021. However, these high and rising rates could reflect issues unrelated to obstetrical factors, such as changes in maternal medical conditions or maternal mortality surveillance (eg, due to introduction of the pregnancy checkbox). OBJECTIVE:This study aimed to assess if the high and rising rates of maternal mortality in the United States reflect changes in obstetrical factors, maternal medical conditions, or maternal mortality surveillance. STUDY DESIGN:The study was based on all deaths in the United States from 1999 to 2021. Maternal deaths were identified using the following 2 approaches: (1) per National Vital Statistics System methodology, as deaths in pregnancy or in the postpartum period, including deaths identified solely because of a positive pregnancy checkbox, and (2) under an alternative formulation, as deaths in pregnancy or in the postpartum period, with at least 1 mention of pregnancy among the multiple causes of death on the death certificate. The frequencies of major cause-of-death categories among deaths of female patients aged 15 to 44 years, maternal deaths, deaths due to obstetrical causes (ie, direct obstetrical deaths), and deaths due to maternal medical conditions aggravated by pregnancy or its management (ie, indirect obstetrical deaths) were quantified. RESULTS:Maternal deaths, per National Vital Statistics System methodology, increased by 144% (95% confidence interval, 130-159) from 9.65 in 1999-2002 (n=1550) to 23.6 per 100,000 live births in 2018-2021 (n=3489), with increases occurring among all race and ethnicity groups. Direct obstetrical deaths increased from 8.41 in 1999-2002 to 14.1 per 100,000 live births in 2018-2021, whereas indirect obstetrical deaths increased from 1.24 to 9.41 per 100,000 live births: 38% of direct obstetrical deaths and 87% of indirect obstetrical deaths in 2018-2021 were identified because of a positive pregnancy checkbox. The pregnancy checkbox was associated with increases in less specific and incidental causes of death. For example, maternal deaths with malignant neoplasms listed as a multiple cause of death increased 46-fold from 0.03 in 1999-2002 to 1.42 per 100,000 live births in 2018-2021. Under the alternative formulation, the maternal mortality rate was 10.2 in 1999-2002 and 10.4 per 100,000 live births in 2018-2021; deaths from direct obstetrical causes decreased from 7.05 to 5.82 per 100,000 live births. Deaths due to preeclampsia, eclampsia, postpartum hemorrhage, puerperal sepsis, venous complications, and embolism decreased, whereas deaths due to adherent placenta, renal and unspecified causes, cardiomyopathy, and preexisting hypertension increased. Maternal mortality increased among non-Hispanic White women and decreased among non-Hispanic Black and Hispanic women. However, rates were disproportionately higher among non-Hispanic Black women, with large disparities evident in several causes of death (eg, cardiomyopathy). CONCLUSION:The high and rising rates of maternal mortality in the United States are a consequence of changes in maternal mortality surveillance, with reliance on the pregnancy checkbox leading to an increase in misclassified maternal deaths. Identifying maternal deaths by requiring mention of pregnancy among the multiple causes of death shows lower, stable maternal mortality rates and declines in maternal deaths from direct obstetrical causes.