Purpose of reviewOrofacial clefts (OCs) are among the most common congenital anomalies, however, prenatal detection of cleft palate without cleft lip (CP) remains low. CP is associated with a higher risk of associated structural anomalies, recurrence risk and genetic aberrations. There is opportunity to optimize prenatal diagnosis, counseling and diagnostic genetic testing for OCs.Recent findingsImproving prenatal diagnosis of CP requires understanding that embryologically, the secondary palate develops from the 6th to the 10th week and fuses with the primary palate by the 12th week. Multiple first, second and third trimester 2D ultrasonographic markers for OCs have been described including the maxillary gap, frontal space, maxilla-nasion-mandible angle, retronasal triangle, palatino-maxillary diameter, equal sign, nonvisualization or gap in the soft to hard palate interface and loss of the superimposed line. We discuss the technique, evidence and limitations of each.SummaryPrenatal detection of OC can be optimized by employing 2D sonographic markers. Prenatal detection of CP may be improved by recognizing its high association with retrognathia/micrognathia.
Background. Plasminogen activator inhibitor-1 (PAI-1) inhibits tPA and creates a prothrombotic state. Gene polymorphisms of PAI-1 are associated with elevated levels and adverse pregnancy outcomes. Case. A 36-year-old gravida 6, para 1-1-3-1 with elevated prepregnancy PAI-1 levels, a history of early-onset preeclampsia with severe features superimposed on chronic hypertension, intrauterine growth restriction (IUGR), and recurrent pregnancy loss (RPL), presented with a dichorionic-diamniotic twin gestation. She was managed with aspirin and enoxaparin and delivered appropriately grown twins at 36 weeks and 3 days, due to the development of preeclampsia superimposed on chronic hypertension. She was discharged not on enoxaparin and represented with pulmonary edema on postoperative day 8. Conclusion. It is reasonable to consider testing certain patients with recurrent pregnancy loss and/or early preeclampsia with severe features for PAI-1. If levels are elevated, treatment with prophylactic enoxaparin may be beneficial. Further research is needed to determine the effect of this therapy in patients with exceedingly poor perinatal outcomes to better assess for any impact on improved outcomes.
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