The Association between Sickle Cell Disease and Postpartum Severe Maternal Morbidity.

Objective:  To compare the risk of severe maternal morbidity (SMM) from the delivery admission to 42 days' postdischarge among persons with sickle cell disease (SCD) to those without SCD.

Study Design:  This retrospective cohort study included deliveries ≥20 weeks' gestation at an urban safety net hospital in Atlanta, GA from 2011 to 2019. The exposure was SCD diagnosis.

Association of Sickle Cell Disease With Severe Maternal Morbidity.

Objective: To evaluate the association between sickle cell disease (SCD) and severe maternal morbidity (SMM) in a contemporary cohort of deliveries by non-Hispanic Black people.

Methods: We retrospectively examined SMM by using electronic health record data on deliveries by non-Hispanic Black patients between 2011 and 2020 at a single tertiary, public institution. Sickle cell disease was identified during the delivery admission by using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) and International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) codes.

External cephalic version: Success rates with and without nitrous oxide.

Background: External cephalic version (ECV) is a technique used to reduce the incidence of cesarean deliveries due to malpresentation. Nitrous oxide is an inhaled analgesic that may be used for pain relief for women undergoing external cephalic version.

Objective: To compare the conversion rate of non-cephalic to cephalic presentation in ECV with and without nitrous oxide.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature.

Vaginal birth after cesarean: Does accuracy of predicted success change from prenatal intake to admission?

Background: There are 2 prediction nomograms for vaginal birth after cesarean delivery. The first is based on variables that are available at the first prenatal visit, and the second includes variables at the time of admission.

Objective: The purpose of this study was to compare the accuracy of prediction scores that are calculated by the intake and admission prediction nomograms in a modern cohort of racially and ethnically diverse women.

X-linked duplication copy number variation in a familial overgrowth condition.

We describe an overgrowth condition associated with X-linked copy number variation. Three brothers displayed an overgrowth pattern at birth that continued postnatally. Clinical findings included macrocephaly, distinctive facial features, developmental delay and variable clubfoot.

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Developmental and epileptic encephalopathies are genetic disorders in which both the developmental disability and the frequent epileptic activity are the effect of a specific gene variant. While heterozygous variants in SCN1B have been described in families with generalized epilepsy with febrile seizures plus, Type 1, only three cases of homozygous, missense variants in SCN1B have been reported in association with autosomal recessive inheritance of a severe developmental and epileptic encephalopathy. We present two siblings who are homozygous for a novel, missense variant in SCN1B, c.