Misoprostol-Induced Fever and Unnecessary Antibiotic Prescribing: A Retrospective Study.

Introduction: Misoprostol is widely used for medication abortion and postpartum hemorrhage. However, it has been associated with the adverse effect of fever, which can pose challenges in management and potentially contribute to unnecessary antibiotic use. The incidence of misoprostol-induced fever in the context of medical abortion has not been extensively studied.

Molecular autopsy in maternal-fetal medicine.

PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.

Identification of a novel MKS locus defined by TMEM107 mutation.

Meckel-Gruber syndrome (MKS) is a perinatally lethal disorder characterized by the triad of occipital encephalocele, polydactyly and polycystic kidneys. Typical of other disorders related to defective primary cilium (ciliopathies), MKS is genetically heterogeneous with mutations in a dozen genes to date known to cause the disease. In an ongoing effort to characterize MKS clinically and genetically, we implemented a gene panel and next-generation sequencing approach to identify the causal mutation in 25 MKS families.

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Background: Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Mendelian phenotype offer a unique opportunity for high throughput novel gene discovery as has been established for other recessive postnatal phenotypes.

Genetic, chromosomal, and syndromic causes of neural tube defects.

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes.

Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist.

Postnatal outcome of isolated antenatal hydronephrosis.

Objective: To assess the postnatal outcome of fetuses with renal pelvis dilatation (RPD).

Methods: A retrospective study was conducted to review 61 fetuses found to have RPD by ultrasound (US) carried out from January 2008 to January 2012 at the Security Forces Hospital in Riyadh, Kingdom of Saudi Arabia. Five ended with intra uterine fetal death or early neonatal death, and were excluded.

Mutations in TMEM231 cause Meckel-Gruber syndrome.

Background: Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease.

Purpose: To report genetic analysis results in two families in which all known MKS diseases genes have been excluded.

Methods: In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration.