![]() ![]() With the introduction of chromosomal microarray, a higher resolution of the genome can be achieved compared to conventional karyotyping, and therefore, a prenatal microarray is nowadays used as a standard tool if structural anomalies are seen on fetal ultrasound scan. Before prenatal microarray was available, chromosomal karyotyping was the standard technique to perform when soft markers or structural anomalies were seen on fetal ultrasound scan. One of the techniques used in prenatal diagnostic testing is chromosomal microarray (array comparative genomic hybridization, CGH or single nucleotide polymorphism, SNP array). Even with a normal microarray, fetuses with an isolated increased NT had a 28.8% risk of either pregnancy loss or an affected child. Seven out of 73 live-born children showed an adverse outcome (9.6%).Ĭonclusions: Prenatal microarray in fetuses with isolated increased NT had a 5% (2/40) increased diagnostic yield compared to conventional karyotyping. In 73 fetuses with an isolated increased NT, 21 pregnancies showed abnormal postnatal outcome (21/73, 28.8%), 29 had a normal outcome (29/73, 40%), and 23 were lost to follow-up (23/73, 31.5%). Totally, 40 of 73 fetuses received prenatal microarray of whom 3 fetuses had an abnormal microarray result: two pathogenic findings (2/40) and one incidental carrier finding. Totally, 73 of 77 fetuses with normal karyotype did not show additional anomalies on an early first trimester ultrasound. Seventy-seven fetuses showed normal karyotype (52%). Results: Totally, 149 of 166 women opted for prenatal testing. The follow-up time after birth was maximally 4 years. Additionally, all ongoing pregnancies of fetuses with normal karyotype were followed up with regard to postnatal outcome. Materials and Methods: A prospective study was performed, in which 166 women, pregnant with a fetus with isolated increased NT (ranging from 3.5 to 14.3 mm with a mean of 5.4 mm) were offered karyotyping and subsequent prenatal microarray when karyotype was normal. Our study researched the diagnostic yield of prenatal microarray in a cohort of fetuses with isolated increased NT (defined as NT ≥ 3.5 mm) and questioned whether prenatal microarray is a useful tool in determining the adverse outcomes of the pregnancy. When the karyotype is normal, fetuses are still at risk for structural anomalies and genetic syndromes. ![]() 4Department of Human Genetics, Amsterdam UMC, Universiteit van Amsterdam, Amsterdam, Netherlandsīackground: Increased nuchal translucency (NT) is associated with aneuploidy.2Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.1Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands. ![]()
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