TL;DR: A thickened nuchal fold in the second trimester may be useful in distinguishing unaffected fetuses from those with Down syndrome, but the overall sensitivity of this finding is too low for it to be a practical screening test for Down syndrome.
Abstract: ContextSecond-trimester prenatal ultrasound is widely used in an attempt to
detect Down syndrome in fetuses, but the accuracy of this method is unknown.ObjectiveTo determine the accuracy of second-trimester ultrasound in detecting
Down syndrome in fetuses.Data SourcesEnglish-language articles published between 1980 and February 1999 identified
through MEDLINE and manual searches.Study SelectionStudies were included if they recorded second-trimester findings of
ultrasonographic markers, chromosomal abnormalities, and clinical outcomes
for a well-described sample of women. A total of 56 articles describing 1930
fetuses with Down syndrome and 130 365 unaffected fetuses were included.Data ExtractionArticles were independently reviewed, selected, and abstracted by 2
reviewers. Discrepancies in data abstraction were resolved by consensus with
a third reviewer. Overall estimates of sensitivity, specificity, and positive
and negative likelihood ratios were calculated for the following markers:
choroid plexus cyst, thickened nuchal fold, echogenic intracardiac focus,
echogenic bowel, renal pyelectasis, and humeral and femoral shortening. Results
were stratified by whether markers were identified in isolation or in conjunction
with fetal structural malformations.Data SynthesisWhen ultrasonographic markers were observed without associated fetal
structural malformations, sensitivity for each was low (range, 1%-16%), and
most fetuses with such markers had normal outcomes. A thickened nuchal fold
was the most accurate marker for discriminating between unaffected and affected
fetuses and was associated with an approximately 17-fold increased risk of
Down syndrome. If a thickened nuchal fold is used to screen for Down syndrome,
15 893 average-risk women or 6818 high-risk women would need to be screened
for each case of Down syndrome identified. For each of the other 6 markers,
when observed without associated structural malformations, the marker had
marginal impact on the risk of Down syndrome. Because the markers were detected
in only a small number of affected fetuses, the likelihood of Down syndrome
did not decrease substantially after normal examination findings (none of
the negative likelihood ratios were significant).ConclusionsA thickened nuchal fold in the second trimester may be useful in distinguishing
unaffected fetuses from those with Down syndrome, but the overall sensitivity
of this finding is too low for it to be a practical screening test for Down
syndrome. When observed without associated structural malformations, the remaining
ultrasonographic markers could not discriminate well between unaffected fetuses
and those with Down syndrome. Using these markers as a basis for deciding
to offer amniocentesis will result in more fetal losses than cases of Down
syndrome detected, and will lead to a decrease in the prenatal detection of
fetuses with Down syndrome.
TL;DR: Prenatal ultrasonographic measurements included length, anteroposterior diameter, and transverse diameter of the kidney and renal pelvis, as well as dorsal renal parenchymal thickness, which correlated with postnatal outcome in 63 fetuses with suspected hydronephrosis.
TL;DR: Two hundred ten consecutive fetuses were identified as having renal pyelectasis among 7400 patients scanned during 1 year and seven of these 210 fetuses had Down syndrome.
TL;DR: The sonographically detectable physical features of second trimester fetuses are evaluated to determine whether these features are more sensitive and specific than maternal age for detecting fetuses with abnormal karyotypes and a weighted sonographic score was developed to optimize the detection of fetuses at risk for aneuploidy.
Abstract: Current indications for cytogenetic evaluation leave the majority of Down syndrome fetuses undetected. Using advanced maternal age and low maternal serum alpha-fetoprotein (AFP) levels as criteria, only 40% of fetuses with Down syndrome (trisomy 21) are identified (positive predictive value, 0.4% to 1%). We evaluate the sonographically detectable physical features of second trimester fetuses to determine whether these features are more sensitive and specific than maternal age for detecting fetuses with abnormal karyotypes. From March 1, 1990, to September 1, 1991, more than 5,000 fetuses between 14 and 20 weeks of development were referred for genetic amniocentesis because of advanced maternal age or abnormal AFP levels. Forty-three of these 5,000 fetuses were later found to have autosomal trisomies by karyotype (32 with trisomy 21, nine with trisomy 18, and two with trisomy 13). A sample of 588 consecutive normal fetuses from the total of more than 5,000 amniocenteses performed during this period of time was used as our control group for statistical analysis. The sonographic features of these 588 normal second trimester fetuses and the 43 trisomic fetuses recorded prospectively prior to knowledge of the karyotype were evaluated statistically. The femur and humerus lengths, nuchal fold, renal pelvic dimension, and major structural defects were compared in the normal and trisomic fetuses. On the basis of our results, a weighted sonographic score was developed to optimize the detection of fetuses at risk for aneuploidy. Using our previously published formulas and criteria for a short femur and humerus, 17/32 (53%) fetuses with Down syndrome and 23/588 (3.9%) of the normal fetuses were identified. Twenty two of 32 Down syndrome fetuses (69%) and 2/588 (0.34%) of normals had a nuchal fold > or = 6 mm, and 11 of 32 Down syndrome fetuses and all those with trisomies 18 and 13 had a major anomaly detected sonographically. The following scoring system was developed for the detection of aneuploidy: nuchal fold = 2, major structural defect = 2, and short femur, short humerus, and pyelectasis = 1 each. Selecting fetuses with a score of > or = 2 would identify 26/32 (81%) Down syndrome fetuses, and 9/9 (100%) and 2/2 (100%) fetuses with trisomies 18 and 13 respectively, but only 26/588 (4.4%) of the normal fetuses. Using the sonographic score of 2 results in a positive predictive value for a 1/250 risk group of 6.87% for identifying Down syndrome fetuses and 7.25% for all three trisomies.(ABSTRACT TRUNCATED AT 400 WORDS)