Genetic determinism and hemispheric influence in hair whorl formation.

BACKGROUND: The mechanisms determining the laterality and the rotation direction of hair whorls are unknown. Here we report observations on twins investigating the genetic bases of whorl pattern formation. Knowing that vortex phenomena may depend on geographic effects, we also provide comparative data on whorls from children born in the Northern hemisphere (France) versus children born in the Southern hemisphere (Chile). MATERIAL AND METHODS: We retrospectively included children from three populations: (1) Northern hemisphere general population, (2) Southern hemisphere general population, and (3) same-sex Northern hemisphere twins. We recorded whorl rotation direction (clockwise, counterclockwise), whorl position (left, right, central) and twinning type. Univariate logistic models were used to screen for associations between rotation direction and whorl position. For twins, the variable of interest was binary, i.e. same rotation direction (reference class) or opposite directions for each twin pair. For controls, all single combinations were included as virtual twins, and compared to real twins. Odds ratios (OR) were compared for both hemispheres, for real twins and virtual (control) twins. RESULTS: Seventy-four (37 pairs) twins and 50 children from the general population of each hemisphere were included. The OR for opposite rotation directions between two twins was ≠1 (p = 0.017), meaning that whorls rotated preferentially in the same direction in twins. ORs were <1 for Northern and Southern hemispheres, meaning that whorls rotated preferentially in the same direction in simulated twins. OR for the Northern hemisphere (0.04 [0.03; 0.05]) was less than the OR for the Southern hemisphere (0.28 [0.24; 0.32]) with no confidence interval superimposition, indicating than counterclockwise whorls were more frequent in the Southern hemisphere (p < 0.001). CONCLUSIONS: We suggest that hair whorl formation is a genetically determined developmental process that can be influenced by extrinsic environmental factors. Our results furthermore underline the general importance of studies focused on limit phenomena that can provide insights on general developmental mechanisms. We plead for large-scale epidemiological assessments of hair whorls in several Northern and Southern hemisphere populations to confirm these surprising findings suggesting significant modulations of craniofacial development by geographic effects.

Use of Remifentanil Associated with Lidocaine for Feticides in Late Terminations of Pregnancy: A Randomized Clinical Trial.

INTRODUCTION: In France, performance of a termination of pregnancy is legally possible without any gestational age limit. After 22 weeks of gestation, a feticide is ethically performed using usually sufentanil and lidocaine. The aim of this study was to compare the use of remifentanil, a fast-acting morphine-derivating product, instead of sufentanil. METHODS: This 2-center randomized, controlled, single-blinded phase-III treatment trial had 2 parallel arms: an experimental group using remifentanil with lidocaine versus a control group receiving sufentanil associated with lidocaine. This trial took place over a 40-month period. The primary outcome was time to fetal asystole after lidocaine injection. The secondary outcome measures were the procedure's success rate, the rate of serious maternal side effects, and the presence of cellular or tissue modifications. RESULTS: The study included 66 women, randomized into 2 groups of similar size and characteristics. Time to fetal asystole did not differ significantly between the groups, with a delay of 4 min (Q1-Q3, 2-11) in the sufentanil group and 4 min (Q1-Q3, 1-10) in the remifentanil group (p = 0.84). Similarly, the success rate of the procedure did not differ significantly. Fetal asystole was procured in <2 min and persisted >1 min for 16 (25.8%) women in our total population: 7 (22.5%) in the sufentanil group and 9 (29.0%) in the remifentanil group, p = 0.77. No severe maternal side effects were observed. Among the 49 fetopathological examinations performed, the few tissue and cell modifications observed did not cause any interpretation difficulties in either group. DISCUSSION/CONCLUSION: Use of remifentanil instead of sufentanil for feticide procedure did not improve time to fetal asystole. No harmful effect was observed for either maternal tolerance or interpretation of the histologic slides.

Corpus luteum score, a simple Doppler examination to prognose early pregnancies.

OBJECTIVES: In early pregnancies, miscarriages and inconclusive ultrasound scans considering location and viability are very common. In several previous studies, serum progesterone levels predicted viability of pregnancy and, in recent ones, failed Pregnancies of Unknown Location (PUL), completion of miscarriage and complications. Corpus luteum, secreting progesterone in early pregnancy, was less studied. Some publications showed correlations between corpus luteum aspects and diagnosis of miscarriage but it was not evaluated for other outcomes in early pregnancy, such as failed PUL, completion of miscarriage or complications. We aimed to assess if Doppler examination of corpus luteum could also predict all these outcomes: failed PUL, diagnosis and completion of miscarriages and complications. STUDY DESIGN: A single operator prospectively described and/or collected pictures of Doppler signal in the wall of the corpus luteum at most consultations in our early pregnancy unit and established a three-level score. All suspected or confirmed non-viable pregnancies with this score or/and serum progesterone levels were registered retrospectively. With logistic regressions, AIC/BIC, likelihood ratios, ROC curves, Mann-Whitney and Fisher exact tests, we evaluated the ability of the score, alone, to predict failed PUL, diagnosis and completion of miscarriages and the complications, and, combined, to improve previously published predictions. RESULTS: From 277 included pregnancies, 186 (67.1 %) miscarried. Of these, 159/186 (85.5 %) fully evacuated without surgery: 114/186 (61.3 %) within 20 days after the first diagnosis and 45/186 (24.2 %) after more than 20 days. Twenty-seven patients (14.5 %) underwent surgical evacuation, including ten complications, five haemorrhages and five suspected infections. Logistic regression correlated strongly the corpus luteum score with failed PUL (p < 0.0001) and miscarriages (p < 0.0001). Moreover, rates of complications and swift non-surgical completions of miscarriage were respectively 0 % and 92 % with scores of 0, versus 6 % and 44 % with scores of 1, versus 16 % and 0 % with scores of 2. Combined with serum progesterone levels, this score improved most predictions. Adding parity or history of miscarriage in predictive models even increased these performances. CONCLUSIONS: Corpus luteum score, alone, can predict failed PUL, diagnosis and completion of miscarriages and their complications. Combining this score with other factors (mainly serum progesterone levels) improves most predictions.

A score-based method for quality control of fetal hard palate assessment during routine second-trimester ultrasound examination.

INTRODUCTION: When an orofacial cleft lip is discovered, precise characterization of this malformation is necessary, especially the extension of this cleft to the secondary palate. We aimed to develop and evaluate the feasibility/reproducibility of a score-based quality control for the visualization of the fetal hard palate during the second-trimester scan. MATERIAL AND METHODS: All ultrasound images of fetal hard palate assessed routinely during second-trimester scan were retrospectively retrieved for a 6-month period. One hundred of these images were randomly selected and analyzed by two blinded reviewers, according to a scoring system (0-6 points). Criteria retained in the score were complete palate bone horizontal plate, presence of two pterygoid processes, visible alveolar ridge, and horizontal axis of insonation. A score ≥4 defined images of good quality. Inter- and intra-reviewer reproducibility was assessed. RESULTS: Inter-reviewer reproducibility was excellent with significant correlation (Pearson coefficient 0.953; P < .0001), global adjusted κ coefficient (0.86, 95% CI 0.79-0.94) and individual criteria adjusted κ coefficient always > 0.8. Rates of images of good quality (score ≥ 4) were 75%-77%, also with excellent agreement (κ coefficient 0.89, 95% CI 0.79-0.99). Intra-reviewer reproducibility retrieved the same results (excellent agreement) except for the axis of insonation (satisfactory agreement). CONCLUSIONS: This simple image scoring system for the fetal palate is easy, has excellent inter- and intra-reviewer reproducibility and could also help sonographers to correctly identify the palate structure.

Thrombosis of torcular herophili: diagnosis, prenatal management, and outcome.

OBJECTIVES: The objective of this article is to describe and assess prenatal imaging findings, fetal and postnatal outcomes of thrombosis of torcular herophili, and to determine diagnostic features, pathophysiology, prognosis, and optimal management. METHODS: Over a decade, we compiled the largest single-center retrospective study of outcomes. Fetal magnetic resonance imaging (MRI) was used to confirm the sonographic suspicion and monitor thrombosis of torcular herophili. We noted prenatal and postnatal imaging specifications, pregnancy outcomes, and clinical and radiological pediatric monitoring. Analysis of findings and review of the literature allowed us to define prognostic factors. RESULTS: In eight cases of prenatal diagnosis of thrombosis of torcular herophili, MRI outcomes were specific. There were five deliveries at full term, two terminations of pregnancy, and one fetal demise in utero. Neonates had a good clinical and radiological outcome. Factors of poor prognosis were deep venous sinus thrombosis, enduring mass effect, brain parenchymal injury, and heart failure related to dural arteriovenous shunt. CONCLUSION: Among dural sinus malformations, thrombosis of torcular herophili with or without extension at the posterior segment of the longitudinal sinus frequently has a good prognosis. It is urgent to wait because the prognosis can only be ascertained over time by means of ultrasound scan and MRI monitoring.