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.     

Effects of lindane on Daphnia magna during chronic exposure

Abstract

Acute and chronic toxicity tests with lindane were conducted on Daphnia magna. The 24‐hr static LC50 was 1.64 mgL^‐1. The sublethal effects of 0.16, 0.25, 0.32, 0.60 and 0.80 mgL^‐1 lindane on the survival, reproduction and growth of D. magna were monitored for 21 days. The algae Nannochloris oculata (5 × 10⁵ cellsmL^‐1) was used to feed the daphnids. The parameters used to determined the effect of the pesticide on D. magna were:mean total young per female, mean brood size, days to first brood, intrinsic rate of natural increase (r), growth, and survival. Reproduction as well as survival was significantly reduced at lindane concentrations of 0.25 mgL^‐1 and higher. The intrinsic rate of natural increase (r) decreased with increasing concentrations of lindane. Growth, as measured by body length, was depressed significantly at 0.25 mgL^‐1 lindane and higher. The chronic data was used to formulate an acute/chronic ratio.     

Evaluation of a Daphnia magna renewal life‐cycle test method with diazinon

Abstract

Acute and chronic toxicity tests with diazinon (diethyl 2‐isopropyl‐6‐methyl‐4‐pyrimidinyl phosphorothionate) were conducted on Daphnia magna. The 24‐hr static LC50 was 0.86 μL.L^‐1. The sublethal effects of 0.05, 0.1, 0.5, 0.75 and 1.0 ngL^‐1 of diazinon concentrations on the survival, reproduction and growth of D. magna were monitored for 21 days. The algae Nannochloris oculata (5 x 10⁵ cellsmL^‐1) was used to feed the daphnids. The parameters used to determined the effect of the pesticide on D. magna were: mean total young per female; mean brood size; days to first brood; intrinsic rate of natural increase (r); growth; and survival. Reproduction as well as survival was significantly reduced at diazinon concentrations of 0.10 ngL^‐1 and higher. The intrinsic rate of natural increase (r) decreased with increasing concentrations of diazinon. Growth, as measured by body length, was depressed significantly at 0.05 ngL^‐1 of diazinon and higher concentrations. The maximum acceptable toxicant concentration (MATC) was calculated. The chronic data was used to formulate an acute/chronic ratio.     

Maternal genetic disorders and fetal development

With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders.     

Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation

Holoprosencephaly is a congenital anomaly characterized by lack of cleavage of the prosencephalon. Although, relatively rare, it is the most common anomaly that involves both the brain and the face. Prenatal diagnosis of this anomaly using ultrasonography, particularly of the less severe forms, is difficult. Magnetic resonance imaging has recently become an important complement to US in prenatal diagnosis of CNS anomalies. We herein report a patient in whom, at 23 weeks of gestation, US suggested agenesis of the corpus callosum and in whom, at 24 weeks of gestation, MRI correctly diagnosed lobar holoprosencephaly, which was confirmed by a postnatal MRI at 3 weeks of age. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital cystic adenomatoid lung malformation: A report of seven cases

Six cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.     

Congenital myotonic dystrophy: An often unsuspected cause of severe polyhydramnios

Two cases of severe polyhydramnios are presented in which the unsuspected diagnosis of myotonic dystrophy was made in the patient and the fetus.