Chromosomal microarray in fetuses with increased nuchal translucency

TY - JOUR

T1 - Chromosomal microarray in fetuses with increased nuchal translucency

AU - Lund, I. C.B.

AU - Christensen, R.

AU - Petersen, O. B.

AU - Vogel, I.

AU - Vestergaard, E. M.

PY - 2015

Y1 - 2015

N2 - Objective: To assess the clinical value of using high-resolution chromosomal microarray (CMA) for the examination of genomic imbalances in prenatal uncultured chorionic villus samples from fetuses with increased nuchal translucency (NT) and a normal quantitative fluorescent polymerase chain reaction (QF-PCR) result, in a clinical setting in which more than 95% of pregnant women receive first-trimester combined screening. Methods: From January 2013 to July 2014, we included 132 chorionic villus samples from consecutive ongoing pregnancies, with fetal NT ≥ 3.5 mm at 11-13 weeks' gestation, from obstetric units (publicly funded healthcare) in Central and North Denmark Regions. DNA was extracted directly from the samples and examined with QF-PCR (n = 132) and 180 kb oligonucleotide array-based comparative genomic hybridization (n = 94). Results: In 38 cases, aneuploidies for chromosomes 18, 21 or X, or triploidy, were detected by QF-PCR. Among the 94 cases with a normal QF-PCR result, we detected pathogenic copy number variants (CNVs) by CMA in 12 fetuses (12.8% (95% CI, 7.5-21.0%)). In an additional three (3.2%) cases, CNVs with uncertain clinical significance were detected. Conclusion: CMA is a valuable diagnostic technique in pregnancies with isolated fetal NT ≥ 3.5 mm.

AB - Objective: To assess the clinical value of using high-resolution chromosomal microarray (CMA) for the examination of genomic imbalances in prenatal uncultured chorionic villus samples from fetuses with increased nuchal translucency (NT) and a normal quantitative fluorescent polymerase chain reaction (QF-PCR) result, in a clinical setting in which more than 95% of pregnant women receive first-trimester combined screening. Methods: From January 2013 to July 2014, we included 132 chorionic villus samples from consecutive ongoing pregnancies, with fetal NT ≥ 3.5 mm at 11-13 weeks' gestation, from obstetric units (publicly funded healthcare) in Central and North Denmark Regions. DNA was extracted directly from the samples and examined with QF-PCR (n = 132) and 180 kb oligonucleotide array-based comparative genomic hybridization (n = 94). Results: In 38 cases, aneuploidies for chromosomes 18, 21 or X, or triploidy, were detected by QF-PCR. Among the 94 cases with a normal QF-PCR result, we detected pathogenic copy number variants (CNVs) by CMA in 12 fetuses (12.8% (95% CI, 7.5-21.0%)). In an additional three (3.2%) cases, CNVs with uncertain clinical significance were detected. Conclusion: CMA is a valuable diagnostic technique in pregnancies with isolated fetal NT ≥ 3.5 mm.

KW - Array comparative genomic hybridization

KW - Chromosomal microarray

KW - Genomic imbalance

KW - Nuchal translucency

KW - Prenatal diagnosis

U2 - 10.1002/uog.14726

DO - 10.1002/uog.14726

M3 - Journal article

C2 - 25393210

AN - SCOPUS:84920861342

SN - 0960-7692

VL - 45

SP - 95

EP - 100

JO - Ultrasound in Obstetrics and Gynecology

JF - Ultrasound in Obstetrics and Gynecology

IS - 1

ER -