Social vulnerability and prenatal diagnosis.

OBJECTIVES: There are limited data on how neighborhood-level risk factors affect the likelihood of having prenatal diagnosis. Neighborhood social vulnerability can be quantified and ranked using the social vulnerability index (SVI), a tool that measures the cumulative effect of external stressors in the local environment that may affect health outcomes. The objective of the study was to determine the relationship between SVI and prenatal diagnosis among pregnant patients who received genetic counseling. METHODS: Retrospective cohort study of all pregnant patients who had genetic counseling at two hospitals in New York between January 2019 and December 2022. For each patient, the address of residence was linked to an SVI score (primary exposure) based on census tract. SVI scores were subdivided into fifths and analyzed categorically. The primary outcome was prenatal diagnosis (yes/no). Multivariable logistic regression was performed. RESULTS: A total of 5,935 patients were included for analysis and 231 (3.9 %) had prenatal diagnosis. On regression analysis, no association between SVI and prenatal diagnosis was observed. Patients who had a diagnostic procedure were more likely to be English speaking (aOR 1.80; 95 % CI 1.13-2.87), carriers of a genetic disorder (aOR 1.94; 95 % CI 1.32-2.86), had increased NT (aOR 6.89; 95 % CI 3.65-13.00), abnormal NIPS (aOR 9.58; 95 % CI 5.81-15.80), or had fetal structural anomalies (aOR 10.60; 95 % CI 6.62-16.96). No differences were seen based on race and ethnicity group, insurance type, or marital status. CONCLUSIONS: SVI score does not affect rate of prenatal diagnosis. Findings may differ in other geographic regions and populations.

Comparative analysis of ultrasonographic fetal lung texture in twin and singleton fetuses.

OBJECTIVES: Increased fetal lung heterogeneity has been associated with term fetal lungs in singleton gestations. The objective of this study was to determine if fetal lung heterogeneity index (HI) differs between twin and singleton fetuses in the late second and third trimesters. METHODS: Prospective cohort study of women with singleton and twin gestations with medically-indicated ultrasound examinations at 24 weeks of gestation onward. Grayscale transverse fetal lung images were obtained at the level of the four-chamber heart. A region of interest was selected in each fetal lung image. Fetal lung HI was determined with MATLAB software using a dithering technique with ultrasound image pixels transformed into a binary map form from which a dynamic range value was determined. HI averages and standard deviations were generated for twin and singleton fetuses from 24 weeks gestation onward. Two sample t-tests were used to compare the mean HI at each gestational week between singleton and twin fetuses. RESULTS: In total, 388 singleton and 478 twin images were analyzed. From 35 through 38 weeks of gestation a statistically significant divergence in mean HI was observed with higher means in singleton compared to twin fetuses. At 24 weeks of gestation there was a significantly higher HI in twin fetuses compared to singletons. No differences in fetal lung HI were observed between 25 and 34 weeks gestational age. CONCLUSIONS: Differences in fetal lung HI were observed when comparing twin and singleton fetuses. Further investigation is required to determine the potential clinical significance of these findings.

Presence and Size of Placental Lakes on 20-Week Fetal Anatomy Ultrasound and Obstetrical Outcomes.

Our objective was to determine if placental lake presence or size is associated with adverse pregnancy outcomes. This was a retrospective cohort of patients who had fetal anatomy ultrasounds at 18-22 weeks and delivered between 2018 and 2022. Placental lakes were classified as small (>2.0 to 3.9 cm) or large (≥4 cm). Multiple gestations, placenta previas, and placenta accretas were excluded. Outcomes included low birthweight, cesarean delivery, primary cesarean for non-reassuring fetal heart tracing, fetal growth restriction, preterm birth, and severe preeclampsia. A total of 1052 patients were included; 294 had placental lakes (204 small, 90 large). No differences in pregnancy outcomes were observed.

Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.

Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined. In this case report, a 38-year-old Hispanic woman, G5P3013, with a monochorionic diamniotic twin gestation with one fetus displaying significant cranial abnormalities on prenatal ultrasound and magnetic resonance imaging (MRI) of the brain is presented. Fetal anomalies included bilateral ventriculomegaly, absent cavum septum pellucidum, and absent corpus callosum. Diagnostic amniocentesis with chromosome analysis, chromosomal microarray, alpha-fetoprotein, cytomegalovirus, toxoplasmosis, and parvovirus had normal results. Whole-exome sequencing for the anomalous fetus detected a de novo mosaic variant of uncertain significance (VUS) in the calcium/calmodulin dependent serine protein kinase (CASK) gene: c.1963 A > G (p.Asn655Asp). This variant was absent in the normal twin fetus, the mother, and the father. Pathogenic CASK gene mutations are associated with three syndromes: FG syndrome 4, intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH), and intellectual developmental disorder with or without nystagmus. Whole-exome sequencing identified a potential etiology for the anomalies detected. The variant likely arose de novo and was the potential cause of the identified cranial abnormalities in one fetus of this monochorionic diamniotic twin gestation. Whole-exome sequencing may provide additional diagnostic utility when standard diagnostic testing is noncontributory.

Severity of excessive gestational weight gain and risk of severe maternal morbidity.

BACKGROUND: Both obesity and excessive gestational weight gain are associated with severe maternal morbidity, but there is limited literature evaluating whether the risk of severe maternal morbidity is further increased by the degree or severity of excessive gestational weight gain. OBJECTIVE: This study aimed to determine whether pregnant patients with excessive gestational weight gain who gained more than 50 lb were at increased risk of severe maternal morbidity compared with those who only moderately exceeded recommended gestational weight gain guidelines. A secondary objective was to determine whether patients who gained 10 lb more than the recommended upper limit of total weight gain for a given prepregnancy body mass index group were at increased risk of severe maternal morbidity compared with those who exceeded that upper limit by a lesser amount. STUDY DESIGN: This was a retrospective cohort study of all patients with live, term, singleton deliveries with excessive gestational weight gain from 7 hospitals within a large health system in New York between January 2019 and February 2020. Excessive gestational weight gain was defined as exceeding the recommended upper limit of total weight gain for a given prepregnancy body mass index category using the National Academy of Medicine gestational weight gain guidelines: >40 lb for a body mass index of <18.5 kg/m2, >35 lb for a body mass index of 18.5 to 24.9 kg/m2, >25 lb for a body mass index of 25.0 to 29.9 kg/m2, and >20 lb for a body mass index of ³30.0 kg/m2. Patient height and weight data were self-reported at the time of delivery hospitalization and retrieved from the electronic medical record system. Patients were classified into 2 excessive gestational weight gain groups: moderate (≤50 lb) or severe (>50 lb). Patients with missing body mass index or gestational weight gain were excluded. The primary exposure was severe excessive gestational weight gain. The primary outcome was severe maternal morbidity, defined using the Centers for Disease Control and Prevention criteria. Logistic regression was used to model the likelihood of severe maternal morbidity, adjusting for race and ethnicity, nulliparity, advanced maternal age, gestational diabetes mellitus, and maternal mood disorder. For the secondary analysis, severe maternal morbidity rates were compared between patients who exceeded their body mass index-specific upper limit of total weight gain by ≥10 lb and those who exceeded it by <10 lb. RESULTS: A total of 11,506 patients were included for analysis, and 1965 patients (17.1%) had severe excessive gestational weight gain. The overall rate of severe maternal morbidity was 3.3%. Severe maternal morbidity occurred in 85 of 1965 patients (4.3%) with severe excessive gestational weight gain and 292 of 9541 patients (3.1%) with moderate excessive gestational weight gain. On regression analysis, after adjustment for covariate factors, patients with a severe excessive gestational weight gain were 39% more likely to experience severe maternal morbidity than those with moderate excessive gestational weight gain (adjusted odds ratio, 1.39; 95% confidence interval, 1.08-1.79). Patients with excessive gestational weight gain of ≥10 lb above the recommended body mass index-specific upper limit for gestational weight gain were 32% more likely (adjusted odds ratio, 1.32; 95% confidence interval, 1.07-1.62) to experience severe maternal morbidity than patients who exceeded that upper limit by <10 lb. CONCLUSION: Patients with live, term, singleton pregnancies who gain more than 50 lb are at increased risk of severe maternal morbidity compared with those who only moderately exceed gestational weight gain guidelines. Similarly, patients who gain ≥10 lb above the recommended body mass index-specific upper limit for gestational weight gain are at increased risk. Further study is warranted to determine the most effective interventions to manage gestational weight gain and mitigate maternal risk.

Fetal hypertrophic cardiomyopathy with elevated middle cerebral artery peak systolic velocity (MCA PSV): A potentially grim association.

An elevated middle cerebral artery peak systolic velocity (MCA PSV) in the setting of nondiabetic hypertrophic cardiomyopathy may portend an especially poor prognosis.

Predicting periviable birthweight and survival: bedside ultrasound versus anatomy scan gestational adjusted age projection.

OBJECTIVE: Two methods of birthweight (BW) prediction in the periviable period: bedside ultrasound proximate to delivery versus gestation-adjusted-projection (GAP) method was compared. METHODS: Periviable births were identified over a 6-year period. The GAP method was applied to the estimated fetal weight (EFW) from anatomy scans and the gestational age at delivery to predict BW, designated EFWGAP. EFW from the bedside ultrasound (EFWUS), and the EFWGAP were compared to actual BW to calculate absolute values of error in BW estimates. Neonatal survival estimates were made utilizing a National Institute of Child Health and Human Development calculator. RESULTS: EFWUS was more accurate than EFWGAP in predicting BW as the mean absolute value of error with bedside ultrasound ǀEFWUS-BWǀ was significantly lower than mean absolute value of error with GAP method ǀEFWGAP-BWǀ, 75.32 ± 74.64 g versus 125.68 ± 130.62 g, p = 0.01. Predicted neonatal survival based on EBWUS was closer to reference than predicted survival based on EBWGAP 9.66% ± 9.43% versus 7.76% ± 7.78% p = 0.26. CONCLUSIONS: EFWUS is more accurate than EFWGAP for predicting BW in this period. However, the GAP technique could have utility in survival predictions when timely performance of ultrasound is not feasible.

Advantages of the Quadruple Screen over noninvasive prenatal testing.

Noninvasive prenatal testing (NIPT) is becoming increasingly popular with some offering it as a primary screen option in all patients in place of serum screening. Serum screening offers insight into placental function, which NIPT does not. Abnormal levels of analytes in the serum screen have been associated with pregnancy complications.

Unexplained persistent postpartum palpitations and tachycardia due to Group A Streptococcus.

BACKGROUND: Group A Streptococcus is one of the most morbid infections in modern obstetric practice. Pregnant women are known to have a 20-fold increased risk of invasive Group A Streptococcus with greatest risk in the first 4 days postpartum. The overwhelming majority of these infections will present with fever, uterine tenderness, or vaginal discharge. A much smaller subset may present to the Emergency Room after initial hospital discharge with much less obvious symptoms. In our case, persistent palpitations with unexplained tachycardia led to improper diagnosis in multiple Emergency Rooms. CASE PRESENTATION: A 37 year-old Caucasian female presents with four post-partum days of unexplained sinus tachycardia and absence of fever, uterine tenderness, or vaginal discharge, which elicits an extensive cardiac and pulmonary workup in multiple Emergency Rooms. Consequent late diagnosis of invasive Group A Streptococcus infection lead to significantly increased morbidity including toxic shock syndrome, acute renal failure, total abdominal hysterectomy and bilateral salpingo-oophorectomy, multiple laparotomies, fasciotomy, intubation, continuous renal replacement therapy, and extensive hospital course and recovery. CONCLUSION: Persistent palpitations with unexplained tachycardia in the post-partum patient in the Emergency Room setting is a potential early warning of Group A Streptococcus infection. Even in the absence of reported clinical fever, uterine tenderness, or vaginal discharge, an early speculum and pelvic exam, with or without consultation with the obstetrics service, is prudent due to the potentially high morbidity or even fatality of Group A Streptococcus infection.

Leiomyosarcoma of the Vagina: An Exceedingly Rare Diagnosis.

Background. Primary leiomyosarcoma of the vagina is an exceedingly rare diagnosis. Current estimates are that this tumor could at most represent a mere 0.062% of malignant neoplasms in the female genital tract, although in actuality it is likely far less common. Case Presentation. A 70-year-old female gravida 3 para 2 with new onset palpable vaginal mass and pink vaginal discharge is diagnosed with primary leiomyosarcoma of the vagina. Chemotherapy is complicated by acute Lyme disease, and the patient requires a robotic-assisted total hysterectomy with bilateral salpingo-oophorectomy and partial vaginectomy. The patient remains without recurrence 18 months after surgery. Conclusion. Vaginal leiomyosarcoma is exceedingly rare with an aggressive course, high recurrence, and undetermined ideal treatment regimen. Its diagnosis can be delayed and its presentation varied. Information on this rare tumor type is predominantly through rare case reports with collective consensus on management lacking. The gynecologic oncologist must exercise prudence in individualizing treatment regimens for this rare yet aggressive malignancy.

Extensive clonal spread and extreme longevity in saw palmetto, a foundation clonal plant.

The lack of effective tools has hampered out ability to assess the size, growth and ages of clonal plants. With Serenoa repens (saw palmetto) as a model, we introduce a novel analytical framework that integrates DNA fingerprinting and mathematical modelling to simulate growth and estimate ages of clonal plants. We also demonstrate the application of such life-history information of clonal plants to provide insight into management plans. Serenoa is an ecologically important foundation species in many Southeastern United States ecosystems; yet, many land managers consider Serenoa a troublesome invasive plant. Accordingly, management plans have been developed to reduce or eliminate Serenoa with little understanding of its life history. Using Amplified Fragment Length Polymorphisms, we genotyped 263 Serenoa and 134 Sabal etonia (a sympatric non-clonal palmetto) samples collected from a 20 × 20 m study plot in Florida scrub. Sabal samples were used to assign small field-unidentifiable palmettos to Serenoa or Sabal and also as a negative control for clone detection. We then mathematically modelled clonal networks to estimate genet ages. Our results suggest that Serenoa predominantly propagate via vegetative sprouts and 10,000-year-old genets may be common, while showing no evidence of clone formation by Sabal. The results of this and our previous studies suggest that: (i) Serenoa has been part of scrub associations for thousands of years, (ii) Serenoa invasion are unlikely and (ii) once Serenoa is eliminated from local communities, its restoration will be difficult. Reevaluation of the current management tools and plans is an urgent task.