Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

OBJECTIVE: In X-linked hypohidrotic ectodermal dysplasia (XLHED), dysfunction of ectodysplasin A1 (EDA1) due to EDA mutations results in malformation of hair, teeth, and sweat glands. Hypohidrosis, which can cause life-threatening hyperthermia, is amenable to intrauterine therapy with recombinant EDA1. This study aimed at evaluating tooth germ sonography as a noninvasive means to identify affected fetuses in pregnant carrier women. METHODS: Sonography, performed at 10 study sites between gestational weeks 18 and 28, led to the diagnosis of XLHED if fewer than six tooth germs were detected in mandible or maxilla. The assessment was verified postnatally by EDA sequencing and/or clinical findings. Estimated fetal weights and postnatal weight gain of boys with XLHED were assessed using appropriate growth charts. RESULTS: In 19 of 38 sonographic examinations (23 male and 13 female fetuses), XLHED was detected prenatally. The prenatal diagnosis proved to be correct in 37 cases; one affected male fetus was missed. Specificity and positive predictive value were both 100%. Tooth counts obtained by clinical examination corresponded well with findings on panoramic radiographs. We observed no weight deficits of subjects with XLHED in utero but occasionally during infancy. CONCLUSION: Tooth germ sonography is highly specific and reliable in detecting XLHED prenatally.

Fetal pulmonary venous blood flow velocities in a normal population and new calculated reference values.

OBJECTIVE: The aim of this study is to establish new Doppler reference values in a population with normal pulmonary veins during different phases of the fetal cardiac cycle for maximum blood flow velocities during ventricular systole (S), early ventricular diastole (D), atrial contraction (a), intensity-weighted mean velocity (Vmean) and the indices derived from these parameters [(S - a)/D] and [(S - a)/Vmean]. METHODS: The pulsed-wave color advanced dynamic flow Doppler technique was used in a prospective cross-sectional study of 365 low-risk pregnancies between 18 and 41 completed gestational weeks. Reference ranges were calculated for the individual measuring parameters based on a growth function from a four-parameter class of monotonic continuous functions according to the smallest square principle. RESULTS: During the observation period of 18 to 41 gestational weeks, a continuous increase was evident in maximum flow velocities for ventricular systole (S), early ventricular diastole (D), atrial contraction (a) and intensity-weighted mean velocity (Vmean) of 14.7 to 431.1, 12.5 to 426.2, 5.4 to 411.9 and 8.7 to 421.6 cm/s, respectively. Venous indices, however, showed a decrease with increasing gestational age: (S - a)/D from 0.9 to 0.7 and (S - a)/Vmean from 1 to 0.9. CONCLUSION: The newly established normal values for the fetal pulmonary vein can be used in standardized Doppler sonography measurement to assess the left atrial pressure in the fetal heart. © 2016 John Wiley & Sons, Ltd.

Natriuretic peptide levels in intrauterine growth-restricted fetuses with absent and reversed end-diastolic flow of the umbilical artery in relation to ductus venosus flow velocities.

OBJECTIVE: To determine if changes in natriuretic peptide levels [propeptide of atrial natriuretic peptide (proANP) and N-terminal propeptide of brain natriuretic peptide (NT-proBNP)] can be demonstrated in fetuses with serious growth restriction and Doppler ultrasonographic findings of hemodynamic compromise. METHOD: Natriuretic peptides of the umbilical vein (proANP and NT-proBNP), arterial and venous blood gases, as well as lactate levels of the umbilical vein were determined in 38 appropriate for gestational age (AGA) fetuses, and 24 intrauterine growth-restricted (IUGR) fetuses with absent (zero-flow) and 17 IUGR fetuses with reversed end-diastolic flow (reverse-flow) of the umbilical artery. RESULTS: A continuous increase in natriuretic peptides in the presence of progressive deterioration was shown. ANP concentrations were significantly lower in the AGA group (mean 818 fmol/mL; range 508-991 fmol/mL) than the zero-flow group (mean 19,680 fmol/mL; range 13,680-25,080 fmol/mL) and the reverse-flow group (mean 33,880 fmol/mL; range 24,365-41,786 fmol/mL). Significant differences were further demonstrated in BNP concentrations of the AGA group (mean 32 fmol/L; range 25-38 fmol/L), zero-flow group (mean 1191 fmol/L; range 908-1655 fmol/L), and reverse-flow group (mean 3063 fmol/L; range 1281-4968 fmol/L). Additionally, significant differences in lactate concentrations were observed for the three groups: AGA, 2.6 mmol/L (range 2-3 mmol/L); zero-flow group, 4.1 mmol/L (range 3.3-5 mmol/L); and reverse-flow group, 7.7 mmol/L (range 5.9-13.7 mmol/L). Increased ANP levels correlated with the arterial base excess and lactate concentrations, as well as with the flow velocities in the ductus venosus during atrial contraction (a-wave), and both ductus venosus indices (S-a)/D and (S-a)/V(mean). No correlations were established for BNP. CONCLUSIONS: As components of a compensatory mechanism, natriuretic peptides exert an influence on the cardiovascular function of the fetus.