Genetic considerations in the prenatal diagnosis of overgrowth syndromes

Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. Copyright © 2009 John Wiley & Sons, Ltd.     

Shifting Baselines and The Extinction of The Caribbean Monk Seal

The recent extnction of the Caribbean monk seal Monachus tropicalis has been considered an example of a human‐caused extinction in the marine environment, and this species was considered a driver of the changes that have occurred in the structure of Caribbean coral reef ecosystems since colonial times. I searched archaeological records, historical data, and geographic names (used as a proxy of the presence of seals) and evaluated the use and quality of these data to conclude that since prehistoric times the Caribbean monk seal was always rare and vulnerable to human predation. This finding supports the hypothesis that in AD 1500, the Caribbean monk seal persisted as a small fragmented population in which individuals were confined to small keys, banks, or isolated islands in the Gulf of Mexico and the Caribbean Sea. This hypothesis is contrary to the assumption that the species was widespread and abundant historically. The theory that the main driver of monk seal extinction was harvesting for its oil for use in the sugar cane industry of Jamaica during the 18th century is based primarily on anecdotal information and is overemphasized in the literature. An analysis of reported human encounters with this species indicates monk seal harvest was an occasional activity, rather than an ongoing enterprise. Nevertheless, given the rarity of this species and its restricted distribution, even small levels of hunting or specimen collecting must have contributed to its extinction, which was confirmed in the mid‐20th century. Some sources had been overlooked or only partially reviewed, others misinterpreted, and a considerable amount of anecdotal information had been uncritically used. Critical examination of archaeological and historical records is required to infer accurate estimations of the historical abundance of a species. In reconstructing the past to address the shifting baseline syndrome, it is important to avoid selecting evidence to confirm modern prejudices. Puntos de Referencia Cambiantes y la Extinción de la Foca Monje Caribeña     

Prenatal diagnosis of thalidomide syndrome

A case of thalidomide syndrome diagnosed by ultrasound in the 17th week of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy.