The head impulse, nystagmus type, test of skew (HINTS) protocol set a new paradigm to differentiate peripheral vestibular disease from stroke in patients with acute vestibular syndrome (AVS). The relationship between degree of truncal ataxia and stroke has not been systematically studied in patients with AVS. We studied a group of 114 patients who were admitted to a General Hospital due to AVS, 72 of them with vestibular neuritis (based on positive head impulse, abnormal caloric tests, and negative MRI) and the rest with stroke: 32 in the posterior inferior cerebellar artery (PICA) territory (positive HINTS findings, positive MRI) and 10 in the anterior inferior cerebellar artery (AICA) territory (variable findings and grade 3 ataxia, positive MRI). Truncal ataxia was measured by independent observers as grade 1, mild to moderate imbalance with walking independently; grade 2, severe imbalance with standing, but cannot walk without support; and grade 3, falling at upright posture. When we applied the HINTS protocol to our sample, we obtained 100% sensitivity and 94.4% specificity, similar to previously published findings. Only those patients with stroke presented with grade 3 ataxia. Of those with grade 2 ataxia (n = 38), 11 had cerebellar stroke and 28 had vestibular neuritis, not related to the patient’s age. Grade 2–3 ataxia was 92.9% sensitive and 61.1% specific to detect AICA/PICA stroke in patients with AVS, with 100% sensitivity to detect AICA stroke. In turn, two signs (nystagmus of central origin and grade 2–3 Ataxia) had 100% sensitivity and 61.1% specificity. Ataxia is less sensitive than HINTS but much easier to evaluate.

vHIT provides phenotypic information that differentiates these autosomal ataxias and can serve as a strategy to orient genetic diagnosis. A correlation between VOR and SARA raises the possibility of using VOR gain as a neurophysiologic biomarker for disease severity.

There is little evidence evaluating angiogenic growth factor testing in real-world obstetric settings. This investigation evaluated maternal and perinatal pregnancy outcomes associated with maternal PlGF (placental growth factor) levels in real-world clinical care of high-risk pregnancies. From March 2017 to December 2019, 979 pregnant women with suspected risk of placental dysfunction, hypertensive disorders of pregnancy, or fetal growth restriction completed PlGF testing between 20+0 and 35+6 weeks of gestation. Maternal, fetal, and delivery characteristics were extracted through the electronic medical record system. The primary outcome of preterm birth was assessed using Royston-Parmar survival models and summarized with Kaplan-Meier methods. Of the 979 pregnant women, 289 had low PlGF levels (29.5%), and 690 had normal PlGF levels (70.5%). The survival probability of ongoing pregnancy free from preterm birth within 2- and 4-weeks following PlGF testing was significantly reduced in women with low PlGF levels, relative to women with normal PlGF levels (0.57 versus 0.99, standardized survival difference, −0.43 [95% CI, −0.76 to −0.09], and 0.37 versus 0.99, standardized survival difference, −0.62 [95% CI −0.87 to −0.38], respectively). Women with low PlGF levels were more likely to develop early-onset preeclampsia (adjusted odds ratio, 58.2 [95% CI, 32.1–105.4]) and have a stillbirth (adjusted odds ratio, 15.9 [95% CI, 7.6–33.3]). PlGF status distinguished placental from fetal causes of stillbirth. Low PlGF levels in high-risk pregnant women are strongly associated with increased rates of imminent preterm birth, as well as related adverse outcomes, including early-onset preeclampsia and stillbirth.

Objectives To determine the incidence of chromosomal abnormalities, submicroscopic chromosomal abnormalities and RASopathy‐disorder (RD) pathogenic variants in a cohort of pregnancies with nuchal translucency thickness (NT) ≥ 3.5 mm, and to propose a clinical protocol for surveillance of this group of patients. Methods This was a retrospective chart review of patients referred to The Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital between January 2013 and December 2015, due to NT ≥ 3.5 mm, who underwent chorionic villus sampling or amniocentesis. Patients underwent extensive genetic counseling prior to invasive procedures and testing. Quantitative fluorescence polymerase chain reaction (QF‐PCR) was performed as the first‐line test for aneuploidy. If the result was negative, patients underwent karyotyping and/or chromosomal microarray analysis (CMA), and if the findings were normal, they had testing for RD pathogenic variants, which included nine known genes. Patients also underwent detailed fetal ultrasound examinations and echocardiography, performed by expert operators. Results A total of 226 eligible patients were identified. In 116/226 (51.3%) patients, QF‐PCR identified a chromosomal aneuploidy. The remaining 110/226 (48.7%) patients had further genetic testing. Karyotyping/CMA detected an abnormal/pathogenic cytogenetic result in 9/110 (8.2%) patients, as well as five variants of unknown significance (VOUS). RD testing yielded three pathogenic variants (3/103), giving a detection rate of 2.9%, and one VOUS. The optimal NT cut‐off for RD screening was 7.9 mm in this population. In 92/110 (83.6%) patients, the genetic investigations were normal. Of these pregnancies, an early (14–16 weeks' gestation) detailed fetal ultrasound examination identified a structural abnormality in 24 (26.1%), 15 (16.3%) had an abnormal detailed ultrasound examination at 18–22 weeks' gestation and fetal echocardiography showed a cardiac abnormality in nine (9.8%). The birth outcome in the 83 pregnancies that had normal genetic investigations and known outcome included seven (8.4%) cases of termination of pregnancy, seven (8.4%) cases of intrauterine fetal death and 69 (83.1%) cases of live birth. Nine (9.8%) patients were lost to follow‐up. Conclusions Both CMA and molecular testing for RD are important investigations in pregnancies with NT ≥ 3.5 mm. The use of genetic testing combined with fetal ultrasound examination provides valuable information that can influence pregnancy outcome, and provide recurrence risks, in this patient population. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.