Spontaneous delivery before 34 weeks of gestation was less frequent in the progesterone group than in the placebo group (19.2% vs. 34.4%; relative risk, 0.56; 95% confidence interval [CI], 0.36 to 0.86). Progesterone was associated with a nonsignificant reduction in neonatal morbidity (8.1% vs. 13.8%; relative risk, 0.59; 95% CI, 0.26 to 1.25; P = 0.17). There were no serious adverse events associated with the use of progesterone.

Progesterone and the Risk of Preterm Birth among Women With a Short Cervix

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

After 35 years of real-time two-dimensional sonography, can we now identify changes in fetal motility indicative of malfunction of the central nervous system in high-risk pregnancies? A literature search on motor assessment procedures (movements specified for body part (SMP), quantity, quality and behavioral state), and motor milestones obtained per fetus (with various congenital disorders) yielded 48 articles describing motility of 104 fetuses. In 67%, SMPs (especially isolated arm or leg movements, breathing and general movements) were assessed. Quantitative aspects were examined in 76%, qualitative aspects in 62% and behavioral states in two fetuses. Abnormal motility can be divided into two main subcategories: hypo- and hyperkinetic, demonstrating decreased variation in qualitative performance (reduced or increased, respectively, amplitude, speed and number of participating body parts, abnormal quantity (reduced or increased, respectively) and reduced differentiation into SMPs. Posture was affected in 40/60 hypokinetic and 4/44 hyperkinetic moving fetuses. The majority of the disorders resulted in an adverse outcome. Fourteen percent survived with a handicap, depending on the underlying disorder. The 16 disorders with hypokinetic motility had mainly an autosomal recessive etiology with no possibility of invasive prenatal diagnosis or conclusive sonographic structural anomalies, in contrast to the 17 disorders with hyperkinetic motility. Within the limitations of the studies, a deeper understanding of affected milestones in motor development can be obtained. Broadening motor assessment procedures from quantitative only to include qualitative aspects, differentiation of SMPs and behavioral states and emphasizing onset and continuity of motility before and after birth will enhance the reliability and predictive value of motility as a parameter in the assessment of fetal condition. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.

Changes in fetal motility as a result of congenital disorders: an overview.

An empirical analysis of the optimality rate of flow shop heuristics

Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system (CNS) anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. We present two new patients with NLS with striking prenatal diagnostic findings and detailed post-mortem examinations and review the previously described cases in the literature. Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS.

Neu–Laxova syndrome: Detailed prenatal diagnostic and post‐mortem findings and literature review

The problem of scheduling in dynamic shops is an important operational problem in view of its complexity and significance in terms of associated costs of scheduling. While a number of research studies have investigated the problem of scheduling in flow shops and job shops, only some attempts have been done to study the problem of scheduling in assembly job shops that manufacture multi-level jobs. The problem of scheduling in dynamic assembly job shops with jobs having weights for holding and tardiness of jobs deserves due attention. In this study an attempt has been made to propose new priority dispatching rules that minimize the performance measures related to weighted flowtime and weighted tardiness of jobs. The existing unweighted dispatching rules have been modified in view of the consideration of weights for flowtime and tardiness of jobs. The performances of the (modified) existing dispatching rules and the proposed dispatching rules are compared through exhaustive simulation experiments with the consideration of a number of different experimental settings involving due-date setting, utilization levels and types of job structures. The proposed dispatching rules are found to perform better than the existing ones in most experimental settings and with respect to a number of measures of performance.

Performance evaluation of priority dispatching rules in multi-level assembly job shops with jobs having weights for flowtime and tardiness

This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to 20 weeks by routine antenatal ultrasonography. Severe intrauterine growth retardation (IUGR), microcephaly, central nervous system (CNS) abnormality, joint contractures, and abnormal facies are the major diagnostic features observed in prenatal ultrasonography. Risk factors such as consanguinity and history of intrauterine death or stillbirth in siblings have been noted in all the cases, but none of the three families that were reported had previously had an affected fetus. The spectrum of skin manifestations and frequency of occurrence of major clinical features of the syndrome have been discussed. Review of the literature on NLS and possibility of detecting the syndrome in the second trimester is discussed.

Second trimester diagnosis of Neu Laxova syndrome

Genetic counseling in chromosomal abnormalities

The corpus callosum is the principal supratentorial cerebral commissure, which connects the two cerebral hemispheres in the midline. It is divided into rostrum, genu, body, and splenium. Affected patients may develop mental retardation, dysmorphic features, spasticity, ataxia, or epilepsy. Corpus callosal abnormalities may be isolated or be associated with other anomalies such as sulcal abnormality, ventriculomegaly, cerebellar hypoplasia or cerebellar vermian hypoplasia. Magnetic resonance imaging (MRI) plays a major role in the diagnosis of fetal corpus callosal developmental abnormalities when they are suspected on sonography. This pictorial essay shows the MRI findings in fetal corpus callosal developmental abnormalities in a very systematic manner.

Magnetic Resonance Imaging Findings in Fetal Corpus Callosal Developmental Abnormalities: A Pictorial Essay.

Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l. An 8-year-old Indian girl presented with severe developmental delay and seizures and was found to have pyridoxine-dependent epilepsy owing to an antiquitin mutation. Genetic evaluation of the parents allowed antenatal diagnosis to be made during the next pregnancy.

Sudarshan Suresh

Papers

Performance evaluation of priority dispatching rules in multi-level assembly job shops with jobs having weights for flowtime and tardiness

Second trimester diagnosis of Neu Laxova syndrome

Genetic counseling in chromosomal abnormalities

Magnetic Resonance Imaging Findings in Fetal Corpus Callosal Developmental Abnormalities: A Pictorial Essay.

Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in the ALDH7A1 gene