Higroma quístico y translucencia nucal aumentada como marcadores de anomalías cromosómicas

Moisés Huamán G; Alberto Sosa O; Mercedes Campanero

doi:10.31403/rpgo.v58i43

Authors

Moisés Huamán G ILSAR (Instituto Latinoamericano de Salud Reproductiva, Lima, Perú
Alberto Sosa O CEUSP, Valencia, Venezuela
Mercedes Campanero ILSAR (Instituto Latinoamericano de Salud Reproductiva, Lima, Perú

DOI:

https://doi.org/10.31403/rpgo.v58i43

Abstract

Objectives: To determine the importance of nuchal translucence in fetuses 11 to 13 +6 weeks, identifying characteristics, association with chromosomal anomalies and differences between cystic hygroma and increased nuchal translucency. Design: Prospective cross-sectional study. Setting: Instituto Latinoamericano de Salud Reproductiva, Lima, Peru. Participants: Pregnant women and their fetuses with prenatal cytogenetic diagnosis. Interventions: Between 2007 and June 2012, 266 cases with prenatal cytogenetic diagnosis had 230 amniocentesis after 14 gestational weeks and 36 chorionic villi biopsy (CVS) between 11-13 gestational weeks. Main outcome measures:
Prenatal ultrasound markers. Results: One hundred and six cases of chromosomal abnormalities (39.9%) were found. Cystic hygroma (CH) was more often found than nuchal translucency (NT) (30.8% versus 11.3%) associated with chromosomal abnormalities (68.3% versus 31%), corresponding to HQ sensitivity (S) 45%, positive predictive value (PPV) 62%, likehood ratio+ (LR+) 2.4, and for increased TN S 11%, PPV 40%, LR+ 1. CH was associated in 35.7% to monosomy X, and NT to trisomy. Conclusions: CH was the most common chromosomal abnormalities’ marker found between 11 and 13 +6 weeks and had greater predictive value than increased NT. Each would represent separate entities requiring differentiation.

Key words: Cystic hygroma, nuchal translucency, chromosome abnormality.

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References

Snijders RJM, Nicolaides KH. Sequential screening: ultrasound markers for fetal chromosomal defects. Carnforth, UK: Pathernon Publishing. 1996:109-13.

Pandya PP, Snijders RJM, Johnson SJ, Brizot M, Nicolaides KH. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. BJMO. 1995;102:957-62.

Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry

in a one stop clinic: a review of three years prospective experience. BJOG. 003b;110:281-6.

Kypros H, Nicolaides KH, Falcón O. La ecografía de las 11–13+6 semanas. Londres: Fetal Medicine Foundation, 2004.

lllescas T, Pérez J, Martínez P, Santacruz B, Adiego B, Barrón E. Translucencia nucal aumentada y cariotipo normal. Rev chil obstet ginecol. 2010;75(1):3-8.

Taipale P, Hiilesmaa V, Salonen R, Ylöstalo P. Increased nuchal translucency as a marker for fetal chromosomal defects. N Engl J Med. 1997;337:1654-8.

Montilla L, Petrosino P, Sotolongo A, P. Rosati ML. Guariglia L. Prognostic value of ultrasound findings of fetal cystic hygroma detected in early pregnancy by transvaginal sonography. Ultrasound Obstet Gynecol. 2000;16:245-50.

Moreno UF, Castillo J. Higroma quístico fetal. Rev Obstet Ginecol Venez. 2003;63(3):153-6.

von Kaisenberg CS, Nicolaides KH, Brand-Saberi B. Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Human Reprod. 1999;14(3):823–6.

von Kaisenberg CS, Wilting J, Dök T, Nicolaides KH, Meinhold- Heerlein I, Hillemanns P, Brand-Saberi B. Lymphatic capillary hypoplasia in the skin of fetuses with increased

nuchal translucency and Turner’s syndrome: comparison with trisomies and controls. Molecular Hum Reprod. 2010;16(10):778–89.

Zurita JA. Opinión y revisión: translucencia nucal (TN) y otros marcadores ultrasonográficos y bioquímicos entre las 10 y 14 semanas de gestación. Ultrasonografía

Embrio-Fetal, Venezuela. 2005;1:7-14.

Bohlandt S, von Kaisenberg CS, Wewtzer K, Christ B, Nicolaides KH, Brand-Saber B. Hyaluronan in the nuchal skin of chromosomally abnormal fetuses. Human Reprod.

;15(5):1155–8.

Sananes N, Guigue V, Kohler M, Bouffet N, Cancellier M, Hornecker F, Hunsinger MC, Kohler A, Mager C, Neumann M, Schmerber E, Tanghe M, Nisand I, Favre R. Nuchal

translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of 12 910 euploid pregnancies. Ultrasound Obstet Gynecol. 2010;35:273–9.