First-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age

Bahado‐Singh, Ray O.; Lynch, Lauren; Deren, Özgür; Morroti, Rafaella; Copel, Joshua A.; Mahoney, Maurice J.; Williams, John

doi:10.1016/s0002-9378(97)70388-0

Cited by 63 publications

(43 citation statements)

References 10 publications

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“…74,75 Early Growth Restriction Early growth restriction has been associated with trisomies 18 and 13 6,11 and triploidy. 76 BahadoSingh et al 77 reported the risk for aneuploidy to be substantially increased (odds ratio, 9.04) when the crown-rump length was shortened by 14 mm or more from that expected for menstrual age. However, trisomy 21 has not been shown to be associated with significant shortening in the crown-rump length in the first trimester.…”

Section: Increased Nuchal Translucency In Chromosomally Normal Fetusesmentioning

confidence: 99%

Sonographic screening for fetal aneuploidy: first trimester.

Souter¹,

Nyberg²

2001

J of Ultrasound Medicine

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Objectives. Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. Methods. We reviewed available literature regarding first-trimester screening. This includes more than 16 studies of nuchal translucency as a marker for fetal aneuploidy published since 1995. Results. Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false-positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Turner syndrome. Maternal serum biochemical screening can be used as a test for aneuploidy during the first trimester. The 2 maternal serum markers that appear to be most useful in the late first trimester are the free β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false-positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency, biochemical markers, and maternal age has achieved a detection rate of approximately 85%, for a 5% false-positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first-and second-trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first-trimester screening remain. We address some of these questions: Is first-trimester screening more effective than second-trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients? Is first-trimester screening cost-effective? How should first-trimester screening be interpreted with second-trimester tests? Conclusions. Despite encouraging data and general enthusiasm for first-trimester screening for fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.

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Section: Increased Nuchal Translucency In Chromosomally Normal Fetusesmentioning

confidence: 99%

Sonographic screening for fetal aneuploidy: first trimester.

Souter¹,

Nyberg²

2001

J of Ultrasound Medicine

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“…Additionally, CRL shortening is known to be associated with certain chromosomal abnormalities such as trisomies 18 and 13 as well as triploidy. Growth parameters in trisomy 21, sex chromosome trisomies or monosomy 45,X on the other hand were not significantly reduced [13,14]. …”

Section: Introductionmentioning

confidence: 99%

The K-P Algorithm: A New First-Trimester Growth Model – Comparison with Other Formulae and Correlations with Recorded Embryonic Lengths

Mongelli¹,

Riemke²,

Casikar³

et al. 2012

Gynecol Obstet Invest

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Objective: To generate and validate individually fitted first-trimester growth curves using a new growth model. Secondary aims were to compare this new model with actual recorded embryonic measurements and validate its predictive accuracy. Methods: A prospective study of women presenting to the Early Pregnancy Unit in the first trimester. Women with viable singleton pregnancies at the end of the first trimester who had had at least two crown-rump length (CRL) measurements were selected. An individual power function of CRL was derived from serial CRL measurements. Individual curves were fitted using computer software to estimate a dating adjustment factor (‘k’), and a growth coefficient (‘P’) for each case. The predictive accuracy of the growth curves was then tested in a validation subset of the population that had a third CRL measurement. The population average curve from the developed model was also extrapolated to day 27 menstrual age (Carnegie stage 6), day 30 menstrual age (Carnegie stage 7) and day 84 menstrual age, and values were compared to previously reported measurements. Results: 326 viable pregnancies were selected for CRL growth curve development. The mean time interval between CRL measurements was 20.5 days (range 2–44). The mean value for ‘P’ was 2.058, and for ‘k’ 24.6. Testing the model on a subset of 81 cases showed that the average error in predicting a third CRL measurement was 1% (SD 9.1%). Conclusions: These new, individually fitted growth curves for the first trimester correlate more closely with the recorded embryonic lengths than other standards.

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“…El bajo peso de nacimiento (<2.500 g) y la condición de pequeño para la edad gestacional se asocian con un aumento de la mortalidad perinatal, morbimortalidad infantil a corto y largo plazo que incluye un mayor riesgo de enfermedades cardiovasculares y metabólicas (6,7,8). Es por esto que la prevención de la restricción del crecimiento fetal y el bajo peso de nacimiento, cuando es posible, es de gran importancia clínica y económica.…”

Section: Introductionunclassified

“…Es por esto que la prevención de la restricción del crecimiento fetal y el bajo peso de nacimiento, cuando es posible, es de gran importancia clínica y económica. Comprender la etiología es el primer paso para la prevención (7).…”

Section: Introductionunclassified

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Restricción Del Crecimiento Intrauterino Como Factor De Riesgo Para Malformaciones Congénitas

et al. 2009

Rev. chil. obstet. ginecol.

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RESUMENAntecedentes: La restricción del crecimiento intrauterino (RCIU) se estima que está presente en el 5% de los nacimientos y es la manifestación de procesos aberrantes que impiden el desarrollo normal del feto. Objetivos: Estimar la frecuencia de esta patología en la maternidad del Hospital Clínico de la Universidad de Chile. Obtener la tasa prevalencia al nacimiento de malformaciones congénitas (MFC) y comparar la frecuencia en recién nacidos pequeños (PEG) con los adecuados (AEG) y grandes (GEG) para la edad gestacional. Método: Se estudian todos los nacimientos, vivos y mortinatos, ocurridos entre enero de 1997 a diciembre de 2008, contenidos en la base de datos del ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) desde 1969 a la fecha. Se excluyen los recién nacidos con malformaciones como hidrocefalia, anencefalia e hidrops, que por sus características dificultan la posibilidad de clasificación en PEG, AEG o GEG. Resultados: 10,1% de los nacimientos del período eran PEG. Entre los nacidos vivos 10% fueron PEG, mientras que 33,5% de los mortinatos eran PEG (p<0,05). Eran malformados el 12,9% de los PEG, 8,5% de los AEG y 9,3% de los GEG (p<0,05). La tasa global de malformaciones fue de 9,5%; en NV el 9,4% y en mortinatos el 33%. Conclusión: El RCIU es un factor que aumenta el riesgo de mortalidad fetal tardía y de presentar malformaciones congénitas.

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First-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age

Cited by 63 publications

References 10 publications

Sonographic screening for fetal aneuploidy: first trimester.

Sonographic screening for fetal aneuploidy: first trimester.

The K-P Algorithm: A New First-Trimester Growth Model – Comparison with Other Formulae and Correlations with Recorded Embryonic Lengths

Restricción Del Crecimiento Intrauterino Como Factor De Riesgo Para Malformaciones Congénitas

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