The value of screening for major fetal abnormalities during the nuchal translucency examination

Wye, Deborah; Benzie, R.

doi:10.1002/j.2205-0140.2009.tb00006.x

Cited by 2 publications

(3 citation statements)

References 13 publications

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“…Ultrasound is probably the most useful investigative tool in assessing fetuses following exposures of concern during pregnancy. In many cases, ultrasound dating can provide reassuring information that the exposure occurred either prior to pregnancy or during the pre‐implantation period when one would be generally reassuring about the vast majority of exposures 75,76 …”

Section: Management After Teratogen Exposurementioning

confidence: 99%

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An update on maternal medication‐related embryopathies

Gheysen

Kennedy

2020

Prenatal Diagnosis

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There is a general perception that any exposure to medication during pregnancy poses a potential risk to the fetus. Most available data about teratogenic drugs is derived from animal studies, case reports, or cohort studies. As a result, counseling women and their partners about the safety of drugs during pregnancy can be difficult due to limited information about efficacy, pharmacokinetics, and teratogenicity of some drugs. However, this should always be done in the context of weighing up potential teratogenic risks with the perinatal risks of an untreated medical or psychiatric condition. Ideally, this counseling should occur prior to a planned pregnancy so that medications and treatment of chronic medical conditions can be optimized. It is important that clinicians providing antenatal care are able to confidently manage women including utilizing appropriate resources. This paper aims at reviewing a selected (non‐exhaustive) list of the most commonly prescribed medications considered significant human teratogens and provides recommendations for pre‐conception and antenatal counseling.

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Section: Management After Teratogen Exposurementioning

confidence: 99%

“…Children who had been exposed to valproate in utero had significant lower IQ scores compared to the other drugs, an effect that was shown to be dose‐dependent. At 6 years of age those children had reduced verbal and memory abilities 25‐28,40,45‐78 …”

Section: Introductionmentioning

confidence: 99%

An update on maternal medication‐related embryopathies

Gheysen

Kennedy

2020

Prenatal Diagnosis

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“…Besides that, aneuploid fetuses are susceptible to carry structural defects what can often be detected by a thorough fetal scan during NT scan. Moreover, in euploid fetuses an increased NT is also associated with a wide range of structural anomalies (7,8,9).…”

Section: Introductionmentioning

confidence: 99%

Fetal anatomy scan with integrated nuchal translucency and combination of PAPP-A and fβhCG for prediction of aneuploidy

Korňanová¹,

Dugatova²,

Vaclavova³

et al. 2022

BLL

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BACKGROUND: Nuchal translucency (NT) is an important finding of early fetal anatomy scan because of the association with genetic and structural anomalies. Enlarged nuchal translucency can be easily detected even without measurement on fetal anatomy scan as a neck pathology. Because of demanding criteria for measurning NT in established prenatal aneuploidy screening we came with an idea of improvement and simplifi cation with availabe methods. The aim of this study is to compare established screening methods with new model of screening composed of fetal anatomy scan with integrated nuchal translucency and combination of PAPP-A and fβhCG. METHODS: A prospective one center study analyzed a total of 351 pregnancies between January 2017 and December 2020. Sonographic measurement of NT and fetal anatomy scan (FAS) were performend with biochemical testing from blood sample in the fi rst trimester. Combined screening and fetal anatomy scan was performed. Patients with a pathological screening or with structural defects underwent an invasive procedure. In patient with positive screenining who missed the fi rst trimester invasive procedure, amniocentesis was performed. Fetuses were divided into two groups according to positive or negative karyotype and to calculate sensitivity and specifi city of screening methods. From statistical methods regression analysis, signifi cance p of individual predictor, sensitivity and specifi city with graphic drawing of ROC charts were used. Data were analyzed using statistical tools of Microsoft Excel 365 and BESH stat. RESULTS: Four models for aneuploidy screening were tested. 1) Model of "Age at the time of diagnosis" was slightly signifi cant predictor with insignifi cant odds ratio (P = 0.04, OR = 1). 2) Model of" First trimester biochemical screening" (age, free beta human chorionic gonadotropine -fβhCG and pregnancy associated plasmatic protein A -PAPP-A) were signifi cant (P = 0.0001; LR = 21) with sensitivity of 87.5 % and specifi city of 65.7 %. 3) Model of "First trimester combined test" (age of patients at the time of diagnosis, fβhCG, PAPP-A, NT) was signifi cant (P = 7.9 x10 -14 , LR = 67, sensitivity 87 %, specifi city 80 %). 4) Model of "Fetal anatomy scan with biochemistry" (structural abnormality fi nding with combination including age, fβhCG and PAPP-A) was signifi cant (P = 4.9x10 -18 , LR = 87, sensitivity 95 %, specifi city 80 %). CONCLUSION: Fetal anatomy scan combined with age, fβhCG and PAPP-A has the highest sensitivity and specifi city for both, the detection of fetal aneuploidies and structural abnormalities. Our study shows that fetal anatomy scan is the best possible option for fi rst trimester diagnostics (Tab. 4, Fig. 5, Ref. 16).

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The value of screening for major fetal abnormalities during the nuchal translucency examination

Cited by 2 publications

References 13 publications

An update on maternal medication‐related embryopathies

An update on maternal medication‐related embryopathies

Fetal anatomy scan with integrated nuchal translucency and combination of PAPP-A and fβhCG for prediction of aneuploidy

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