Conflicting umbilical artery Doppler findings in fetuses with trisomy 21

Flöck, A; Remig, I.; Müller, Andreas; Nadal, Jennifer; Berg, Christoph; Gembruch, Ulrich; Geipel, A.

doi:10.1007/s00404-015-3703-4

Cited by 11 publications

(15 citation statements)

References 23 publications

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“…Growth dysfunction in trisomic fetuses can be primarily fetal in origin, but might also be the consequence of an impaired placentation. Abnormal umbilical artery Doppler findings have been associated with disturbance in placental function of fetuses affected by autosomal trisomies irrespective of the presence of fetal growth restriction. Trisomy 21 fetuses have a progressively higher incidence of abnormal umbilical artery impedance indices throughout pregnancy.…”

Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

Genetic syndromes associated with isolated fetal growth restriction

2020

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Early onset fetal growth restriction (FGR) may be due to impaired placentation, environmental or toxic exposure, congenital infections or genetic abnormalities. Remarkable research, mainly based on retrospective series, has been published on the diverse genetic causes. Those have become more and more relevant with the improvement in the accuracy of the analysis techniques and the rising of breakthrough genomewide methods such as the whole genome sequencing. However, no publication has presented an integrated view of management of those fetuses with an early and severe affection. In this review, we explored to which extent genetic syndromes can cause FGR fetuses without structural defects. The most common chromosomal abnormalities (Triploidies and Trisomy 18), submicroscopic chromosomal anomalies (22q11.2 microduplication syndrome) and single gene disorders (often associated with mild ultrasound findings) related to early and severe FGR had been analysed. Finally, we addressed the impact of epigenetic marks on fetal growth, a matter of growing importance. At the end of this review, we should be able to provide an adequate counseling to parents in terms of diagnosis, prognosis and management of those pregnancies.

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Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

Genetic syndromes associated with isolated fetal growth restriction

2020

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“…In a report that included 3 cases of third-trimester fetuses with trisomy 21, Wong and Levine [14 ]noted an absent or reversed end-diastolic UA flow without any other signs of placental insufficiency and in the presence of a reassuring biophysical profile. Floeck et al [9 ]also examined the UA PI in a small series of third-trimester fetuses with trisomy 21. Between 30 and 34 weeks' gestation, UA PI was above the 95th centile in 74% of the 27 cases and in 64% of the 11 cases between 34 weeks and term, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…However, only a few studies have focused on this issue. In a more recent study, Flöck et al [9 ]examined 281 fetuses with trisomy 21 after 20 weeks' gestation. It was found that umbilical artery measurements were abnormal in about 40% of the cases.…”

Section: Introductionmentioning

confidence: 99%

Increased Umbilical Artery Pulsatility Index in Third-Trimester Fetuses with Trisomy 21

Wagner

Sonek²,

Hoopmann³

et al. 2015

Fetal Diagn Ther

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Objective: To examine the umbilical arterial Doppler flow patterns in late third-trimester fetuses with trisomy 21. Methods: This is a retrospective study on fetuses with trisomy 21 that were evaluated after 33 weeks' gestation at the Department of Obstetrics and Gynaecology of the University of Tuebingen, Germany. The umbilical and the middle cerebral artery (UA and ACM) pulsatility index (PI) measurements and the abdominal circumference were transformed into z-values. Results: Forty-two fetuses met the study criteria.The mean gestational age at the time of the first and the second visit was 35.0 and 36.6 weeks, respectively. The mean UA PI was 1.31 and 1.38, which corresponds to z-values of 2.20 and 2.70. In 24 (57.1%) cases, both PI measurements were above the 95th centile. A linear regression analysis demonstrated that the mean of both UA PI was not dependent on the abdominal circumference or on any other examined maternal and pregnancy characteristics. The mean ACM PI at the first and the second visit was 1.62 and 1.48, respectively, corresponding to mean z-values of -0.59 and -0.75, and in none of the cases was it below the 5th centile. Conclusion: In half of the third-trimester fetuses with trisomy 21, the resistance in the UA is increased - even in the absence of placental insufficiency.

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“…La aneuploidía más común entre los recién nacidos vivos es la trisomía 21 o síndrome de Down (SD) 1,2 , con una frecuencia general de 1:600. Hasta hace tres décadas, la única manera de realizar la detección prenatal era considerar la edad de la paciente como factor de riesgo o el hallazgo de malformaciones sospechosas durante el segundo y el tercer trimestres.…”

Section: Introductionunclassified

“…Durante el segundo y el tercer trimestres se han descrito numerosos signos sugerentes de SD: pielectasia, pie en sandalia, cardiopatía congénita, arteria subclavia derecha anómala, atresia duodenal, braquicefalia, ventriculomegalia, hipoplasia del hueso nasal, edema prenasal, edema retronucal, huesos largos cortos, intestino hiperecogénico y macroglosia 4 ; sin embargo, solo recientemente se han descrito alteraciones en el Doppler de la arteria umbilical en los fetos con SD 1,5 .…”

Section: Introductionunclassified

Doppler de arteria umbilical en fetos con síndrome de Down

Bustos-Vidal¹,

Herrera-Alcaíno²

2024

RECHOG

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La aneuploidía más común entre los recién nacidos vivos es el síndrome de Down (SD). En estos niños el crecimiento está disminuido, con una frecuencia del 25% de restricción del crecimiento intrauterino, pero no se ha establecido el papel de la insuficiencia placentaria. El objetivo es estudiar la resistencia placentaria a través del Doppler de arteria umbilical con índice de pulsatilidad (IP) y el tiempo medio de desaceleración (t/2), y el posible efecto de la insuficiencia placentaria en fetos con SD. Método: Se realizó Doppler en la arteria umbilical en 78 fetos con SD, se midieron el IP y el t/2, y se compararon los resultados con los pesos de nacimiento. Resultados: Se estudiaron 78 fetos con SD con 214 mediciones Doppler. El t/2 y el IP estaban alterados en el 71,5% y el 65% de las mediciones, respectivamente. La incidencia de t/2 alterado aumenta con la edad gestacional desde un 28,6% a las 15-20 semanas hasta un 89,3% sobre las 36 semanas (p < 0,01); cifras similares se observan para el IP. La clasificación de los pesos fue: 64% adecuados, 12% grandes y 24% pequeños para la edad gestacional. La última medición de t/2 antes del parto era normal en el 17% y estaba alterada en el 83%. En el caso del IP, los valores fueron normales en el 27% y anormales en el 73%. El peso de nacimiento, la edad gestacional y el porcentaje de niños adecuados para la edad gestacional eran significativamente mayores en el grupo con Doppler normal que en el grupo con Doppler alterado. El z-score del t/2 estaba marcadamente alterado (−2.23), pero el del peso de nacimiento solo estaba algo disminuido (−0,39). La mortalidad perinatal fue del 10%, significativamente mayor cuando el flujo diastólico era ausente o reverso. Conclusiones: El estudio demuestra que los fetos con SD tienen una alta incidencia de alteración del Doppler umbilical para el IP y el t/2, lo cual sugiere una insuficiencia placentaria grave. Este deterioro parece iniciarse hacia el final del segundo trimestre y aumenta con la edad gestacional. Sin embargo, en estos fetos, la insuficiencia placentaria produce una ligera caída en el crecimiento fetal. Como hipótesis general pensamos que en los fetos con SD hay datos claros de insuficiencia placentaria, pero habría algún factor que les protegería de una restricción grave del crecimiento.

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Conflicting umbilical artery Doppler findings in fetuses with trisomy 21

Abstract: Fetuses with trisomy 21 often present with elevated UA PI in the late second or third trimester, irrespective of small for gestational age growth, malformations or histopathological findings of impaired placentation.

Cited by 11 publications

References 23 publications

Genetic syndromes associated with isolated fetal growth restriction

Genetic syndromes associated with isolated fetal growth restriction

Increased Umbilical Artery Pulsatility Index in Third-Trimester Fetuses with Trisomy 21

Doppler de arteria umbilical en fetos con síndrome de Down

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