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.

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.

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.

Vaginal fetal fibronectin as a predictor of spontaneous preterm delivery after multifetal pregnancy reduction.

OBJECTIVE: The study was undertaken to assess the validity of vaginal fetal fibronectin assay as a screening test for spontaneous preterm delivery in asymptomatic patients who have undergone multifetal pregnancy reduction (MFPR). STUDY DESIGN: A historic cohort of 63 patients who underwent MFPR between 10 and 14 weeks of gestation was identified. All patients underwent serial vaginal fetal fibronectin sampling every 2 to 3 weeks from 22 weeks of gestation until delivery or 32 weeks of gestation. The fetal fibronectin concentration was measured by enzyme-linked immunosorbent assay, with 50 ng/mL or greater indicating a positive result. Charts were reviewed for fetal fibronectin results and pregnancy outcome data. Groups were compared by use of Fisher exact test. RESULTS: There were 13 singleton and 50 twin gestations after MFPR. A median of 4 fetal fibronectin assays were performed per patient. A total of 234 fetal fibronectin assays were performed with 222 (94.9%) negative results and 12 (5.1%) positive results. Overall, 41.3% of gestations were delivered spontaneously before 37 weeks; 7.9% were delivered before 34 weeks. The mean interval between tests was 17.8 days (+/-7.2 days). For delivery within 2 and 3 weeks of a single test, fetal fibronectin had a sensitivity of 66.7% and 50%, a specificity of 95.7% and 96.1%, a positive predictive value of 16.7% and 25%, and a negative predictive value of 99.5% and 98.6%, respectively. CONCLUSION: The fetal fibronectin test has similar validity to predict spontaneous preterm delivery in these high-risk pregnancies as in previously published cohorts.