Placenta accreta (PA) encompasses various types of abnormal placentation in which chorionic villi attach directly to or invade the myometrium. PA is a significant cause of maternal morbidity and mortality and is now the most common reason for emergent postpartum hysterectomy. Its prevalence has risen tenfold in the United States over the past 50 years, primarily due to the increasing percentage of pregnant patients undergoing primary and repeat cesarean sections. Placenta previa and previous cesarean section are the two most important known risk factors for PA. Accurate prenatal identification of affected pregnancies allows optimal obstetric management. Ultrasonography (US) remains the diagnostic standard, and routine US examination at 18-20 weeks gestation affords an ideal opportunity to screen for the disorder. Placental lacunae and abnormal color Doppler imaging patterns are the most helpful US markers for PA. In recent years, there has been increased interest in magnetic resonance (MR) imaging for the evaluation of PA, since it can provide information on depth of invasion and more clearly depict posterior placentas. The most reliable MR imaging findings are uterine bulging, heterogeneous placenta, and placental bands. Focal interruptions in the hypointense myometrial border may also be helpful. PA is a clinical and diagnostic challenge that is being encountered with increasing frequency. Clinicians should be aware of the clinical issues, risk factors, and imaging findings associated with PA to facilitate optimal case management.
Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.5%; however, this figure may be an underrepresentation. We report on the molecularly defined germline mosaicism cases from a large CdLS database, representing the first large case series on germline mosaicism in CdLS. Of the 12 families, eight have been previously described; however, four have not. No one specific gene mutation, either in the NIPBL or the SMC1A gene, was associated with an increased risk for germline mosaicism. Suspected or confirmed cases of germline mosaicism in our database range from a conservative 3.4% up to 5.4% of our total cohort. In conclusion, the potential reproductive recurrence risk due to germline mosiacism should be addressed in prenatal counseling for all families who have had a previously affected pregnancy or child with CdLS.
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