A 29-year-old woman in her 8th week of pregnancy was referred to our hospital for swelling in the lower extremities, rapid onset of dyspnea (1 hr) and pre-syncope. Severe right ventricular dysfunction and moderate pulmonary hypertension were detected using 2-dimentional Doppler echocardiography. In addition, left calf vein and proximal thromboses were detected by venous compression ultrasound imaging. After successful thrombolytic treatment, the patient quickly recovered and was discharged from hospital on subcutaneous low-molecular-weight heparin. She delivered a normal, healthy infant at full-term (40 weeks).
Adult ; Dyspnea ; Echocardiography, Doppler ; Female ; Heparin, Low-Molecular-Weight ; Humans ; Hypertension, Pulmonary ; Infant ; Lower Extremity ; Pregnancy* ; Pulmonary Embolism* ; Thrombolytic Therapy ; Thrombosis ; Ultrasonography ; Veins ; Venous Thrombosis* ; Ventricular Dysfunction, Right

Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.
Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 12 ; Female ; Fetal Diseases/*diagnosis/genetics ; Gestational Age ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; *Prenatal Diagnosis ; Pulmonary Valve Stenosis/*ultrasonography ; Ventricular Dysfunction, Right/*ultrasonography