Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract.

Myotonic dystrophy type 1 is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations. Anticipation leads to an earlier and more severe phenotype in subsequent generations. Early-onset cataract is a common initial manifestation of the late or adult-onset type of myotonic dystrophy 1. Due to its multicausal nature, early-onset cataract is often not recognized as a feature of this disease, leading to diagnostic delay resulting in consequences for successive generations, treatment and counseling. A qualitative study with semi-structured interviews was performed with purposive sampling of eight participants with myotonic dystrophy type 1 and early-onset cataract to investigate the physical and psychosocial consequences experienced due to diagnostic delay. Prior to the early-onset cataract, all participants experienced other multisystem symptoms that could have been explained by myotonic dystrophy. The diagnostic delay had severe hereditary consequences: a subsequent generation with more severely affected (grand)children was born resulting in large emotional burden for the patients. To conclude, early-onset cataract is a warning sign and ophthalmologists play a crucial role in the early detection of myotonic dystrophy type 1 by recognizing this symptom and preventing the birth of severely affected children leading to emotional and psychosocial consequences.

The value of histomorphological features of chorionic villi in early spontaneous abortion for the prediction of karyotype.

This study was conducted to evaluate the value of histomorphological features of chorionic villi, such as size, shape, vascularity, trophoblast proliferation and trophoblastic pseudo-inclusions, for the prediction of chromosomal abnormality. Slides of 83 early spontaneous abortions were assessed by three observers. Assessments and karyotype were compared and likelihood ratios computed. Likelihood ratios of < or = 0.40 or > or = 2.50 were not obtained by all three observers for any of the features. One or two observers obtained likelihood ratios of > or = 2.50 for lacunar stromal hydrops, presence of trophoblastic hyperplasia, moderate to abundant trophoblastic hyperplasia, presence of trophoblastic lacunae, few intervillous fibrin deposits and few intervillous trophoblastic buds. Likelihood ratios of < or = 0.40 were found for small chorionic villi and presence of basophilic staining. Lacunar stromal hydrops and trophoblastic lacunae were predictive of triploid karyotype, but not specific for any other type of chromosomal abnormality. After application of data previously obtained on Cohen kappas, lacunar stromal hydrops, moderate to abundant trophoblastic hyperplasia and presence of trophoblastic lacunae remained as possibly useful features, again mainly for identifying triploidy. Most of the items claimed to be related to abnormal karyotype, however, were not predictive at all.