Dataset Information

Prenatal diagnosis and pregnancy outcome analysis of thickened nuchal fold in the second trimester.

ABSTRACT: To summarize the results of prenatal diagnoses and pregnancy outcomes of fetuses with thickened nuchal fold (TNF) in the second trimester.From 2009 to 2016, we studied 72 pregnant women with fetal nuchal fold (NF) measurements over 5?mm at 14 to 19?+?6 weeks or 6?mm at 20 to 28 weeks of gestation who received prenatal diagnosis. Karyotypes were first used to detect common chromosomal diseases, and then chromosome microarray analysis (CMA) was performed if karyotypes were normal. Prognoses were followed up by documentation in the hospital or over the telephone.In total, 12 fetuses with chromosomal defects, including 5 pathogenic copy number variants (CNVs) were detected. The risk of chromosomal defects when a TNF was associated with structural malformations (SMs) (35.5%) was much greater than that of an isolated TNF (3.7%) and a TNF associated with soft markers (0%). The rate of SMs when the NF measured ?10?mm was greater than that NF measured 5 to 7.9?mm or 8 to 9.9?mm. Totally 27 fetuses had adverse pregnancy outcome.A TNF is not only associated with a high risk of trisomy 21 but also with other chromosomal abnormalities, including pathogenic CNVs. The rates of SMs and adverse outcomes increase when the NF thickness increases.

SUBMITTER: Li L

PROVIDER: S-EPMC6257687 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

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Prenatal diagnosis and pregnancy outcome analysis of thickened nuchal fold in the second trimester.

Li Lushan L Fu Fang F Li Ru R Liu Zequn Z Liao Can C

Medicine 20181101 46

To summarize the results of prenatal diagnoses and pregnancy outcomes of fetuses with thickened nuchal fold (TNF) in the second trimester.From 2009 to 2016, we studied 72 pregnant women with fetal nuchal fold (NF) measurements over 5 mm at 14 to 19 + 6 weeks or 6 mm at 20 to 28 weeks of gestation who received prenatal diagnosis. Karyotypes were first used to detect common chromosomal diseases, and then chromosome microarray analysis (CMA) was performed if karyotypes were normal. Prognoses were f ...[more]

PMID: 30431620

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Project description:Background: Increased nuchal translucency (NT) is an important biomarker associated with increased risk of fetal structural anomalies. It is known to be contributed by a wide range of genetic etiologies from single-nucleotide variants to those affecting millions of base pairs. Currently, prenatal diagnosis is routinely performed by karyotyping and chromosomal microarray analysis (CMA); however, both of them have limited resolution. The diversity of the genetic etiologies warrants an integrated assay such as genome sequencing (GS) for comprehensive detection of genomic variants. Herein, we aim to evaluate the feasibility of applying GS in prenatal diagnosis for the fetuses with increased NT. Methods: We retrospectively applied GS (> 30-fold) for fetuses with increased NT (?3.5?mm) who underwent routine prenatal diagnosis. Detection of single-nucleotide variants, copy number variants, and structural rearrangements was performed simultaneously, and the results were integrated for interpretation in accordance with the guidelines of the American College of Medical Genetics and Genomics. Pathogenic or likely pathogenic (P/LP) variants were selected for validation and parental confirmation, when available. Results: Overall, 50 fetuses were enrolled, including 34 cases with isolated increased NT and 16 cases with other fetal structural malformations. Routine CMA and karyotyping reported eight P/LP CNVs, yielding a diagnostic rate of 16.0% (8/50). In comparison, GS provided a twofold increase in diagnostic yield (32.0%, 16/50), including one mosaic turner syndrome, eight cases with microdeletions/microduplications, and seven cases with P/LP point mutations. Moreover, GS identified two cryptic insertions and two inversions. Follow-up study further demonstrated the potential pathogenicity of an apparently balanced insertion that disrupted an OMIM autosomal dominant disease-causing gene at the insertion site. Conclusions: Our study demonstrates that applying GS in fetuses with increased NT can comprehensively detect and delineate the various genomic variants that are causative to the diseases. Importantly, prenatal diagnosis by GS doubled the diagnostic yield compared with routine protocols. Given a comparable turnaround time and less DNA required, our study provides strong evidence to facilitate GS in prenatal diagnosis, particularly in fetuses with increased NT.

Dataset Information

Prenatal diagnosis and pregnancy outcome analysis of thickened nuchal fold in the second trimester.

Publications

Prenatal diagnosis and pregnancy outcome analysis of thickened nuchal fold in the second trimester.

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