Nuchal Translucency and the Acceptance of Invasive Prenatal Chromosomal Diagnosis in Women Aged 35 and Older

Zoppi, Maria Angelica; Ibba, Rosa Maria; Putzolu, Monica; Floris, Michela; Monni, Giovanni

doi:10.1097/00006250-200106000-00010

Cited by 17 publications

(19 citation statements)

References 27 publications

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“…One recent study suggested that the availability of nuchal translucency screening may decrease the rate of invasive testing in high-risk women. 18 Undergoing a combination of tests, including first-trimester ultrasonography as well as secondtrimester serum screening, could increase the likelihood that a fetus with Down syndrome will be identified. Ongoing studies may develop the ability to integrate these and other tests to derive a single estimation of risk in the future.…”

Section: Beneficence-based Dimensions Of Firsttrimester Ultrasonograpmentioning

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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Section: Beneficence-based Dimensions Of Firsttrimester Ultrasonograpmentioning

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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“…The combined test including sonographic measurement of foetal nuchal translucency and the biochemical assessment of free beta-hCG and PAPP-A performed at 11-13 weeks allows detection of 90-95% of affected foetuses for a false-positive rate of 5%. [3][4][5] Despite the excellent performance of the combined test in antenatal exclusion of trisomy 21, only few countries in Europe have adopted a policy of universal screening of the population and cancelled the AMA as a primary indication to foetal karyotyping. In Italy, according to the most recent guidelines, the combined test is suggested as a primary screening tool in pregnancy, irrespective of maternal age, but the option of IPP is still offered, freely, to women aged 35 or older.…”

Section: Introductionmentioning

confidence: 99%

“…3 An increase of non-invasive screening uptake would result in a decrease of IPP and, subsequently, in a reduction of both foetal losses and costs for public health systems. 3,4 However, in order to pursue such a change, a better understanding of the reasons underlying the choice to undergo IPP is needed. Evidence from the literature 7 does not enable firm conclusions to be drawn as to the factors influencing the uptake of IPP by AMA women, although a correlation has been suggested with ethnicity, older age and higher education.…”

Section: Introductionmentioning

confidence: 99%

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

et al. 2015

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Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P = 0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P = 0.0497 and P = 0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals. INTRODUCTIONWomen of advanced maternal age (AMA) face an increased risk of having a child affected by a chromosomal disorder such as trisomy 21, 18 or 13, with the risk rising from 1 in 525 for a 20-year-old to 1 in 18 for a 45-year-old woman. 1 For this reason, in many countries women of AMA have been or still are offered invasive prenatal procedures (IPP), namely amniocentesis (AC) and chorionic villus sampling (CVS), to perform foetal karyotyping. 2 However, owing to the risk of foetal loss associated with IPP, noninvasive screening tests have been developed and proven accurate in identifying women at increased risk of foetal aneuploidies, regardless of maternal age. The combined test including sonographic measurement of foetal nuchal translucency and the biochemical assessment of free beta-hCG and PAPP-A performed at 11-13 weeks allows detection of 90-95% of affected foetuses for a false-positive rate of 5%. [3][4][5] Despite the excellent performance of the combined test in antenatal exclusion of trisomy 21, only few countries in Europe have adopted a policy of universal screening of the population and cancelled the AMA as a primary indication to foetal karyotyping. In Italy, according to the most recent guidelines, the combined test is suggested as a primary screening tool in pregnancy, irrespective of maternal age, bu...

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“…24 Although one might think that first-trimester screening could increase the rate of invasive testing, there is at least 1 study suggesting that the availability of NT screening may decrease it. 25 Malone et al suggest that implementation of first-trimester NT screening could result in "malfeasance." Malfeasance, a legal term, is defined as wrongdoing or misconduct.…”

Section: Letters To the Editormentioning

confidence: 99%

First‐Trimester Nuchal Translucency Screening

Wald

2002

J of Ultrasound Medicine

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To the Editor: Chasen and colleagues 1 in their editorial "Prenatal Informed Consent for Sonogram: The Time for First-Trimester Nuchal Translucency Has Come" 1 correctly point out that nuchal translucency (NT) is a useful marker in prenatal screening for Down syndrome and in competent hands could be used for this purpose. The main unresolved issue, however, is how this measurement should be used in screening. Table 1 compares the false-positive rates of different tests, all used to achieve an 85% detection rate. With NT and maternal age, the false-positive rate is 18%, far higher than for other tests in which NT is included: 4.8% for the first-trimester combined test and 0.8% with the first-and second-trimester integrated test.The evidence indicates that NT alone or with maternal age should not be used as a screening test for Down syndrome. As Chasen and colleagues say in their editorial, seeking independent corroboration of the comparative performance of the different markers, alone and in combination with assessment of the implications for screening practice, is a current research issue. These are the main objectives of studies such as the First-and SecondTrimester Evaluation of Risk for Aneuploidy (FASTER) trial in the United States and the Serum, Urine, and Ultrasound Screening Study in Britain.The issue is not whether NT measurement is useful in screening but establishing how it should be used in combination with other screening markers to maximize detection of affected pregnancies and minimize the number of false-positive results in a cost-effective way.

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Nuchal Translucency and the Acceptance of Invasive Prenatal Chromosomal Diagnosis in Women Aged 35 and Older

Cited by 17 publications

References 27 publications

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

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

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

First‐Trimester Nuchal Translucency Screening

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