Use of serum and urinary soluble sFlt-1 and PLGF in the diagnosis of preeclampsia.

OBJECTIVE: Preeclampsia (PE) is a disorder of pregnancy marked by hypertension and proteinuria with no known treatment aside from pregnancy termination. The pathogenesis of PE is poorly understood, but is thought to originate in the placenta. We assessed the value of measuring serum and urinary soluble deformylase-like tyrosine kinase receptor 1 (sFlt-1), a known target of placental factors, and placental growth factor (PLGF), a key placental signaling molecule, in the diagnosis of PE. METHODS: Eighty patients with PE were classified as either exhibiting mild (44 cases) or severe (36 cases) symptoms of PE. Forty normal pregnant women were selected as controls. Serum and urinary PLGF and sFlt-1 levels, along with the ratio of sFlt-1 to PLGF, were compared across groups. RESULTS: Serum and urinary sFlt-1 and sFlt-1/PLGF ratios in severe PE patients were significantly higher than those in the mild PE group, and measurements from mild PE patients were significantly higher than controls (all P values <0.01). The serum and urinary PLGF levels in severe PE patients were significantly lower than mild PE patients, and mild PE patients had significantly lower PLGF levels than controls (all P values <0.01). As expected, serum sFlt-1 and PLGF levels and ratios were highly correlated with urinary sFlt-1 and PLGF levels and ratios. CONCLUSIONS: The severity of PE was closely correlated with these measurements, suggesting that they may be useful tools in the diagnosis and evaluation of PE.

[Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis].

OBJECTIVE: To identify potential mutation responsible for synpolydactyly (SPD) in a large Chinese kindred and to offer genetic counseling and prenatal diagnosis for the members of the family. METHODS: All family members were examined clinically, and blood samples were obtained for linkage analysis and mutation screening. Ultrasound examinations were conducted at 16-21 weeks. Amniotic fluid sample was obtained by ultrasound-guided amniocentesis at 18 weeks of gestation. RESULTS: A large kindred affected with SPD was identified and characterized. With two short tandem repeat (STR) markers (D2S1238 and D2S1245) flanking the HOXD13 gene, the disease was mapped to 2q31. A heterozygous 27 bp expansion within the imperfect GCN triplet-repeat of exon 1, c. 184_210dup, was identified. The mutation resulted in a gain of 9 alanine residues between the 14th and 15th alanine of the normal 15-amino-acid-long polyalanine tract. On ultrasound examination, all fingers and toes of the fetus appeared to be normal. Linkage analysis and mutation detection confirmed that the fetus did not inherit the mutant allele from his affected mother. CONCLUSION: HOXD13 gene mutation was responsible for the SPD phenotype in this family. Accurate prenatal diagnosis of SPD was achieved with combined ultrasound and molecular analysis.