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- W2978341785 abstract "Noonan syndrome (NS) is the most commonly reported single gene disorder associated with nuchal translucency (NT) above the 99th centile in the first trimester. In our Unit from 2002 to 2017 just 3 cases were identified, all after birth. The aim of the study was to evaluate how the introduction of a systematic screening protocol could increase prenatal diagnoses of NS. From April 2017 all the fetuses with NT measurement ≥ 3.5 mm in the first trimester were tested for standard and molecular karyotype by chorionic villous sampling (CVS). Those with normal karyotype and nuchal fold (NF) thickness ≥ 6 mm at 16 weeks were also tested for NS. NS panel tests consisted of PTPN11, SOS1, BRAF, RAF1, MAP2K1, MAP2K2, KRAS, NRAS, SHOC2, HRAS, RIT1, CBL, LZTR1 and SOS2 genes analysis. Genetic counselling was offered and outcome of pregnancy was recorded for all cases. Nine fetuses were included in the study. Median NT measurement was 6.4 mm (range 3.5-10.9 mm); median NF was 7.6 mm (range 6-11.8 mm). Two fetuses were positive for NS (2/9, 22%) and the median NT value in this subgroup was higher than in the remaining 7 fetuses (8.7 vs 5.3 mm, p= 0.04), while no difference was found for NF value. In detail: one NS fetus at 20 weeks showed trigonocefaly, bilateral pleural effusion, micrognathia and bilateral pyelectasia and ended with intrauterine demise at 22 w; the other NS case developed myocardial hypertrophy and parents opted for termination of pregnancy at 20 w after genetic counselling. A systematic screening protocol allows prenatal identification of NS with an incidence of 22% in screen positive fetuses (euploids with persistent lymphatic disorder). Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W2978341785 created "2019-10-10" @default.
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- W2978341785 date "2019-09-30" @default.
- W2978341785 modified "2023-10-18" @default.
- W2978341785 title "P01.10: Incidence of Noonan syndrome in fetuses with persistent increased nuchal translucency, normal karyotype and normal Array‐CGH: a prospective study" @default.
- W2978341785 doi "https://doi.org/10.1002/uog.20883" @default.
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