Diagnóstico prenatal en el segundo trimestre de displasia torácica asfixiante / Prenatal diagnosis in the second trimester of asphyxiating thoracic dysplasia

Describimos un caso de diagnóstico prenatal de síndrome de Jeune. Debido a su baja incidencia, es excepcional realizar el diagnóstico de este síndrome a las 21 semanas de gestación en una paciente de riesgo bajo. La displasia torácica asfixiante o síndrome de Jeune es una displasia esquelética hereditaria de carácter autonómico recesivo. El diagnóstico prenatal se puede realizar por ecografía; este síndrome se caracteriza por tórax pequeño, costillas cortas, anormalidades pélvicas, braquimelia rizomélica, y anomalías renales y hepáticas, entre otras. En nuestro caso, el diagnóstico prenatal fue confirmado con la necropsia

A case of prenatal diagnosis of Jeune’s syndrome is described. Because the incidence of this syndrome is low, diagnosis in the 21st week of pregnancy is exceptional. Jeune’s syndrome, or asphyxiating thoracic dysplasia, is a skeletal dysplasia with autosomal recessive inheritance. Prenatal diagnosis can be established by ultrasonographic findings of a small thorax, short ribs, pelvic abnormalities, rhizomelic brachymelia, and renal and liver anomalies, among others. In the present case, the prenatal diagnosis was confirmed at necropsy (AU)

Three-dimensional yolk and gestational sac volume. A prospective study of prognostic value.

OBJECTIVE: To evaluate the relative prognostic value of ultrasound findings during the first-trimester scan by univariate and logistic regression analysis in a group of asymptomatic women. STUDY DESIGN: A total of 125 asymptomatic pregnant women with a singleton conceptus, concordance between menstrual age and crown-rump length, and documented fetal activity, 25 for each gestational age between 6 and 10 weeks, were enrolled in the study and underwent a transvaginal sonographic examination. The following data were collected: yolk sac mean diameter and volume, gestational sac mean diameter and volume, fetal heart rate, maternal age, gestational age and presence of a retrochorial hematoma. The outcome variable was abortion, defined as pregnancy loss at any time up to 20 weeks' gestation. Normograms were constructed for volumes, mean diameters and fetal heart rate. Receiver-operator characteristic curves were performed in order to dichotomize maternal and gestational age. Univeriate analysis was performed by Fisher's exact test. Logistic regression was performed to test the relationship between independent variables and pregnancy outcome. RESULTS: In univariate analysis, the variables significantly associated with spontaneous abortion were maternal age > 34 years, yolk sac volume outside the 5th to 95th percentile, gestational sac volume < the 5th percentile and fetal heart rate outside the 5th to 95th percentile. In regression analysis only maternal age > 34 years, gestational sac mean diameter < 5th percentile and fetal heart rate outside the 5th to 95th percentile were significant in predicting abortion. CONCLUSION: Our data suggest that new three-dimensional parameters are of no clinical benefit in the prediction of abortion in nonbleeding, first-trimester pregnancy, when conventional sonographic parameters are used.

Measurement of nuchal translucency as a single strategy in trisomy 21 screening: should we use any other marker?

OBJECTIVE: To evaluate the role of nuchal translucency thickness as a single marker in screening for trisomy 21 at 10-16 weeks' gestation. METHODS: From December 1996 to October 2001, nuchal translucency was measured in 11,281 consecutive early second trimester fetuses referred to our unit for prenatal care and delivery. Scans were performed by eight experienced ultrasonographers, under strict methodological criteria. RESULTS: Chromosomal abnormalities were found in 118 cases (52 trisomy 21). Using nuchal translucency greater than the 95th centile as a cut-off, the overall detection rate was 71.2% with a specificity of 95.4%, and a positive predictive value of 14%. In the trisomy 21 selected group, detection rate, specificity, and positive predictive value for nuchal translucency were 92.3%, 95.4%, and 8.5%, respectively. The detection rate of trisomy 21 reached 100% when nuchal translucency was measured between 10 and 14 weeks' gestation, maintaining the same specificity. CONCLUSION: Early second trimester nuchal translucency measurement can achieve prenatal detection rates of trisomy 21 greater than 95% with a 5% false-positive rate. With a detection rate so high, the benefits of using additional markers may be less than previously considered. Although maternal age, other sonographic or Doppler markers, and maternal serum biochemistry might play a role in prenatal strategies to detect fetal chromosomal abnormalities, the high detection rate of trisomy 21 fetuses using nuchal translucency as a single parameter suggests that early nuchal translucency measurement between 10 and 14 weeks' gestation can be a simple screening strategy for this condition.

References intervals for fetal biometrical parameters.

OBJECTIVE: To establish normal reference intervals for biparietal diameter, head circumference, abdominal circumference, and length of femur, a cross-sectional study. STUDY DESIGN: Five hundred singleton fetuses for each week at gestations between 23 and 41 weeks with a total of 9500 fetuses. Antenatal ultrasound measurements from all consecutive pregnant women referred to the ultrasound unit for scanning of fetal condition are prospectively entered in a data bank. For the purpose of this study, sonographic measurements were collected retrospectively and each fetus contributed just one value to the reference sample. RESULTS: The mean curve of the four biometrical parameters varied with gestational age, with flattening of the curves at the end of gestation and increased width of normal ranges with increasing gestational age. Maximal weekly increases occurred at 24 weeks' gestation for head circumference, abdominal circumference, and length of femur and at 26 weeks' gestation for biparietal diameter. The four biometrical parameters, however, showed 50% increases in size at 33 weeks' gestation. CONCLUSIONS: These fetal size reference intervals are clinically relevant and can be used for populations with epidemiological features and distribution of neonatal birth weights similar to our data.