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Our purpose was to compare two different methods of expressing nuchal translucency (NT) measurements in first-trimester screening for trisomy 21: the difference in millimeters from the median of nuchal translucency (delta value: delta NT) and the multiple of the expected median (MoM). Fetal nuchal translucency was measured in 32 fetuses with trisomy 21 and in 3180 normal fetuses at 9-13 weeks' gestation. For each fetus, the measured nuchal translucency was expressed both as a delta value and MoM. The effectiveness of the MoM-Gaussian vs. the delta value method in modifying the age-specific risk for trisomy 21 was compared by using both the maternal age distribution of our study population and the age distribution of a general obstetric population. The use of the MoM-Gaussian approach led to a reduction in the false-positive rate at a given detection rate, both in the study population (by 1.2-15.2%) and in the general population (by 0.4-2.4%). Our results suggest that the use of the MoM-Gaussian method might confer a potential advantage on the screening performance of nuchal translucency in combination with maternal age by decreasing the false-positive rate. Further studies in larger unselected populations will be needed to confirm the effectiveness of this approach.

In this study we constructed customized biometric growth charts using quantile regression in a large cohort of low-risk pregnancies. These charts offer the advantage of defining individualized normal ranges of fetal biometric parameters at each specific percentile corrected for parental height and weight, parity, and race. This study supports the importance of including these variables in routine sonographic screening for fetal growth abnormalities.

Objective The objective of this study was to investigate a strategy for clinical implementation of cell-free DNA (cfDNA) testing in high-risk pregnancies after first-trimester combined screening.Methods In 259 singleton pregnancies undergoing invasive testing after first-trimester combined screening, a maternal blood sample was sent to the laboratory Natera for cfDNA testing using a single-nucleotide polymorphismbased methodology.Results The cfDNA test provided a result in 249 (96.1%) pregnancies and, among these, identified as being at high risk 35 of 36 cases of trisomy 21, 13 of 13 with trisomy 18, five of five with trisomy 13 and three of four with sex chromosome aneuploidies. A policy of performing an invasive test in women with a combined risk of ≥1 in 10 or NT ≥4 mm and offering cfDNA testing to the remaining cases would detect all cases of trisomy 21, 18 or 13, 80% of sex aneuploidies and 62.5% of other defects and would avoid an invasive procedure in 82.4% of euploid fetuses. ConclusionIn high-risk pregnancies after combined screening, a policy of selecting a subgroup for invasive testing and another for cfDNA testing would substantially reduce the number of invasive procedures and retain the ability to diagnose most of the observed aneuploidies.

The aim of the study was to assess the value of sonographic measurement of fetal humerus and femur lengths in the second trimester as a screening tool for Down syndrome (DS). We reviewed retrospectively fetal sonographic biometry made at the time of amniocentesis between 15 and 19 weeks. The study group consisted of 27 DS fetuses. The control group comprised 500 normal fetuses chosen randomly. The expected humeral and femoral lengths for a given biparietal diameter were estimated by linear regression equations from the 500 normal fetuses. Receiver operating characteristic curve analysis was performed to evaluate both the detection rate and the false-positive rate of different cut-off values of measured to expected lengths ratios. The median femur and humeral lengths in DS fetuses were 0.91 times the expected values. No significant differences in the detection rate and false-positive rate were found between the humerus and femur lengths. When the humeral and femoral lengths were combined, we observed a remarkable reduction in the false-positive rate. A measured to expected length ratio of 0.91 detected 44.4 per cent of DS fetuses with 7.6 per cent false positives. These results suggest that the combination of femoral and humeral lengths may permit a more efficient use of ultrasound in screening for Down syndrome than the use of either alone.

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The aim of this study was to evaluate the potential effectiveness of maternal serum pregnancyassociated plasma protein A (PAPP-A) and free P-hCG in combination with nuchal translucency thickness in first trimester screening for Down's syndrome. Maternal serum levels of PAPP-A and free P-hCG were assayed in stored sera from 32 Down's syndrome and 200 unaffected pregnancies. Fetal nuchal translucency was measured by ultrasound at the time of blood sampling. Screening of Down's syndrome using a combination of maternal age, PAPP-A, free P-hCG and nuchal translucency would achieve a detection rate of 75.8% for a false positive rate of 5%.

Contingent screening test could be a cost-efficient and feasible first trimester screening test for aneuploidies in public health system.