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This article discusses a case report of prenatal diagnosis of Andersen-Tawil syndrome, a condition characterized by muscle weakness, arrhythmias, and physical abnormalities. Limb defects, such as short stature and limb deformities, are common in this syndrome. The article emphasizes the importance of genetic counseling and genetic studies for accurate diagnosis and appropriate management. The authors provide a detailed description of the case and highlight the need for further research and understanding of this condition. [Extracted from the article]

This article, published in the journal Ultrasound in Obstetrics & Gynecology, discusses the use of Doppler ultrasound to detect intrauterine growth restriction (IUGR) in pregnant women. The study analyzed 1600 deliveries over 12 months and found that a normal uterine artery pulsatility index (PI) was associated with a lower risk of IUGR. However, an abnormal PI was linked to an increased risk of low birthweight, but not an increase in admissions to the Neonatal Unit. The findings suggest that the PI of the uterine arteries can be a useful predictor of fetal growth restriction. [Extracted from the article]

This article discusses the case of a 39-year-old pregnant woman who was diagnosed with both congenital diaphragmatic hernia (CDH) and Pallister-Killian Syndrome (PKS) during a first trimester ultrasound. CDH is a severe malformation where abdominal organs enter the chest cavity through a hole in the diaphragm, while PKS is a rare chromosomal disorder characterized by the presence of extra copies of chromosome 12. The article highlights the importance of early diagnosis and genetic counseling for these conditions, as they can have significant implications for the health and development of the fetus. [Extracted from the article]

This article discusses a case report of a patient with partial agenesis of the corpus callosum, a rare congenital disorder characterized by the partial or complete absence of the corpus callosum, which connects the two cerebral hemispheres of the brain. The cause of this condition is often unknown, but it can be caused by infections or injuries during pregnancy, exposure to alcohol in utero, or inherited traits. The patient in this case also had Coffin-Siris syndrome, a neurodevelopmental disorder characterized by delays in development and various congenital anomalies. Genetic testing and counseling are important in cases of partial agenesis of the corpus callosum due to its association with a range of genetic disorders. [Extracted from the article]

This article, published in the journal Ultrasound in Obstetrics & Gynecology, examines the relationship between isolated single umbilical artery (SUA) and adverse perinatal outcomes. The study, conducted in the Salamanca Healthcare Area, evaluated 1267 single gestations and found that isolated SUA was associated with lower gestational age, lower birthweight, and a higher rate of Caesarean section and instrumental delivery. However, no differences were found in Apgar test scores, pH at birth, admissions to the neonatal ICU, or the incidence of malformations or genetic disorders. The authors conclude that while isolated SUA is considered a marker of genetic conditions, no genetic disorders were found in their study. [Extracted from the article]

This article discusses the prognosis and outcomes of prenatally diagnosed fetal ovarian cysts. The study, conducted at the Hospital Clínico Universitario de Salamanca, reviewed the medical records of newborns with fetal ovarian cysts over the past 10 years. Out of the 12 cases reported, most cysts resolved spontaneously or remained unchanged until birth. However, some cysts increased in size and required postnatal surgery. The study found that the rate of complications and resolution was similar to that reported in the literature, with larger cysts being more likely to cause complications. The article concludes that prenatal torsion of the cyst is a rare complication. [Extracted from the article]

This article discusses the prognosis and outcomes of prenatal non-visualization of the fetal gallbladder (PNVGB). PNVGB can be isolated or associated with other anomalies, such as cystic fibrosis, chromosomal abnormalities, and biliary tract disorders. The study reviewed the clinical records of newborns diagnosed with PNVGB in the last 10 years at the Hospital Clínico Universitario de Salamanca. Out of 8 cases, 2 were found to have cystic fibrosis, while the other 6 had normal results. One pregnancy affected by cystic fibrosis was terminated, while the others proceeded without complications. The article concludes that PNVGB is a rare finding, and when not associated with cystic fibrosis, the prognosis is good. [Extracted from the article]