Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome

Smith‐Bindman, Rebecca; Hosmer, Wylie; Feldstein, Vickie A.; Deeks, Jonathan J; Goldberg, James D.

doi:10.1001/jama.285.8.1044

Cited by 293 publications

(207 citation statements)

References 84 publications

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“…Sensitivity for each ultrasonographic marker is low (1 to 16%), when observed without associated fetal structural malformations, and most fetuses with such markers have normal outcomes. 1 About 4% of the population can screen positive for fetal chromosomal anomalies with a sensitivity of 75 to 80% when done by an experienced person. 3 In our country, biochemical screening is not being offered to all pregnant women due to various reasons, such as the lack of easy availability, the cost or inadequate awareness among obstetricians.…”

Section: Discussionmentioning

confidence: 99%

“…These ultrasonographic markers, namely nuchal fold thickening, echogenic cardiac focus, echogenic bowel, mild ventriculomegaly and nasal bone hypoplasia are associated with increased risk of aneuploidy of varying magnitude. 1,2 Identification of any of these findings requires further counseling and possible referral to a prenatal diagnostic center with the provision of an option of an invasive test for fetal karyotyping. 1 Other sonographic markers, such as choroid plexus cyst, renal pyelectasis, short femur and single umbilical artery are not known to be associated with a significant risk of chromosomal anomalies, particularly if present in isolation.…”

Section: Introductionmentioning

confidence: 99%

“…1,2 Identification of any of these findings requires further counseling and possible referral to a prenatal diagnostic center with the provision of an option of an invasive test for fetal karyotyping. 1 Other sonographic markers, such as choroid plexus cyst, renal pyelectasis, short femur and single umbilical artery are not known to be associated with a significant risk of chromosomal anomalies, particularly if present in isolation. Thus, amniocentesis is not indicated for these findings alone.…”

Section: Introductionmentioning

confidence: 99%

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Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Sharda

Phadke

2007

J Perinatol

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Objective: Use of soft ultrasonographic markers during routine prenatal ultrasonography (USG) may be used for the screening of aneuploidy in the low-risk population. The aim of this study was to evaluate the acceptance of an invasive test for prenatal diagnosis and to assess the role of various factors in the decision-making regarding an invasive test when confronted with risk for aneuploidy after a soft marker is detected on routine antenatal ultrasonogram.Study design: Women were referred for USG in our department by primary obstetricians for indications such as a previous child with a congenital malformation, genetic disorder, stillbirth or in women with recurrent spontaneous abortions. Some of the women were referred after prenatal detection of a soft marker on USG. They were screened for soft markers associated with chromosomal abnormality. They were counseled regarding the age-specific risk and the risk of aneuploidy after detection of a marker in comparison to the general population's risk of Down's syndrome. They were also counseled regarding the risk of a procedurerelated abortion (0.5%) following an invasive procedure before their decision regarding the use of amniocentesis was made.Result: Twenty women out of 50 (40%) opted for amniocentesis. Except in one case of trisomy 21 in a fetus with short femur and humerus, all others had normal karyotype. The uptake of the test was comparable between primigravida (33%), women with poor obstetric history (46%) and women with at least one normal live child (45%). There was no statistical difference in the uptake of invasive test based on gestational age as well. Uptake of amniocentesis was higher (78%) in cases with nuchal thickening as compared to other markers (35%).Conclusion: Ultrasonographic detection of soft markers is associated with a high frequency of uptake for invasive prenatal testing. Increased nuchal thickening is associated with a higher acceptance of amniocentesis. Maternal age, gestational age or previous obstetric history were not associated with the decision to undergo amniocentesis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Sharda

Phadke

2007

J Perinatol

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“…Although this is a useful second-trimester marker for Down syndrome, only approximately 20% to 30% of fetuses with Down syndrome will have increased nuchal skin fold thickness. 4 Nicolaides et al 5 described an association with first-trimester nuchal edema and aneuploidy in 1992. Subsequently, numerous studies described increased nuchal translucency in most fetuses with Down syndrome and other forms of aneuploidy between 10 and 14 weeks.…”

Section: Reliability Of First-trimester Ultrasonographic Screening Fomentioning

confidence: 99%

Prenatal informed consent for sonogram: the time for first‐trimester nuchal translucency has come.

Chasen¹,

Skupski²,

McCullough³

et al. 2001

J of Ultrasound Medicine

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ltrasonographic screening in pregnancy has been and continues to be a matter of controversy. For the past 20 years, second-trimester ultrasonographic screening has been debated. Even today, the American College of Obstetricians and Gynecologists does not endorse this as a standard of care. Nonetheless, secondtrimester ultrasonography is widely offered. In 1989, two of us (F.A.C. and L.B.M.) made the argument that "the standard of care demands that prenatal informed consent for sonogram be accepted as an indication for the prudent use of obstetric ultrasonography performed by qualified personnel." 1 The purpose of this editorial is to extend that argument to first-trimester ultrasonographic screening for aneuploidy using nuchal translucency determination. Reliability of First-Trimester Ultrasonographic Screening for AneuploidyThe term nuchal translucency refers to the ultrasonographic measurement of nuchal skin late in the first trimester. A specific feature of neonates with Down syndrome is redundant nuchal skin. This has also been noted with other autosomal trisomies as well as Turner syndrome. 2 Nuchal edema occurs in the fetus as well, and varying degrees of this are visible ultrasonographically. These range from slight thickening of nuchal skin to cystic hygromas, which are congenital malformations in which dilated lymphatic channels form a soft tissue mass, typically in the posterior neck.Benacerraf et al 3 reported an association between increased nuchal skin fold thickness in the second trimester and Down syndrome in 1985. Although this is a useful second-trimester marker for Down syndrome, only approximately 20% to 30% of fetuses with Down syndrome will have increased nuchal skin fold thickness. 4 Nicolaides et al 5 described an association with first-trimester nuchal edema and aneuploidy in 1992. Subsequently, numerous studies described increased nuchal translucency in most fetuses with Down syndrome and other forms of aneuploidy between 10 and 14 weeks. Most early studies defined increased nuchal translucency using a single cutoff, usually 3.0 mm. 6 A problem with using a single cutoff in defining abnormal nuchal translucency is the fact that nuchal translucency increases with gestational age in fetuses without abnorAbbreviations CVS, chorionic villus sampling; FMF, Fetal Medicine Foundation

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“…El empleo, por tanto, de los marcadores ecográficos como base para ofertar AG casos de SD detectad dichos fetos (29).…”

Section: Discussionunclassified

Analysis of results of genetic amniocentesis in a private center

Cosp

2016

Mem. Inst. Investig. Cienc. Salud

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Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome

Cited by 293 publications

References 84 publications

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Prenatal informed consent for sonogram: the time for first‐trimester nuchal translucency has come.

Analysis of results of genetic amniocentesis in a private center

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