Daniel Roshan

Obstetric management of Klippel-Trenaunay syndrome.

BACKGROUND: Klippel-Trenaunay syndrome is a rare congenital disease characterized by extensive cutaneous vascular malformations, venous varicosities, focal abnormalities of the deep venous system, and underlying soft tissue or bony hypertrophy. Given the rarity of the disease, there is little information available to counsel patients with Klippel-Trenaunay syndrome regarding obstetric outcome. CASES: We report our experience with 3 patients in whom Klippel-Trenaunay syndrome complicated 4 pregnancies. Successful delivery of a healthy infant at or beyond 36 weeks of gestation was achieved in all pregnancies. One of the 4 pregnancies was complicated by pulmonary embolism. CONCLUSION: Klippel-Trenaunay syndrome was once thought to be a contraindication to pregnancy. With careful management, successful pregnancies can be achieved.

Antenatal treatment of fetal goiter: a therapeutic challenge

Objective. Pre-natal ultrasonography presents an opportunity for in-utero therapy of a fetal goiter. Because of the morbidity associated with a large goiter and the risks of repeated intra-amniotic injections, controversy arose about the precise indications of this mode of treatment. We describe our observations in treating a 22-week-old fetus with a large goiter because of dyshormogenesis, monitored with serial 3D high frequency, high resolution ultrasonography and amniotic hormonal measurements. Fetal hypothyroidism was confirmed by cordocentesis and amniotic hormone levels. After assessment of relevant risk factors and the criteria for in-utero intervention, including goiter volume, amniotic fluid index, polyhydramnios and tracheal compression, we determined that hormonal therapy was warranted. Levothyroxine was injected every 7–10 days, and its efficacy monitored by ultrasound changes and amniotic hormone sampling. Results. Reduction in goiter volume restored normal neck flexion relieving the pressure on the trachea, polyhydramnios was prevented and amniotic hormone levels were normalised. The infant was euthyroid at birth, however, by age 4 days hypothyroidism was diagnosed, and treatment with l-thyroxine started. Conclusion. Advances in fetal ultrasonography permit judicious therapy of an enlarging goiter in a hypothyroid fetus, which may contribute to enhancing cognitive development. We discuss the value of amniotic hormone sampling, the objectives and risks of in-utero intervention in the light of recent literature and our own observations.

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

Background. Ehlers–Danlos syndrome (EDS) is a rare connective tissue disorder characterized by tissue fragility, translucent skin and joint hypermobility. Patients with the vascular type of EDS are prone to spontaneous arterial and visceral rupture. Pregnancy for women with vascular EDS can be life-threatening. Mortality rates are high due to the increased risk for uterine and arterial rupture in the peripartum period. Case. We describe the counseling, multidisciplinary management, protocol, and successful pregnancy outcome of a 32-year-old woman with vascular EDS. Conclusion. There is no consensus in the literature on the timing and mode of delivery for pregnant women with vascular EDS. The management undertaken in our patient may assist others in optimizing the perinatal outcome in other women who elect to continue their pregnancy despite the risks of this severe medical condition.