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Objective To assess the clinical significance of 16p13.11 microduplications encompassing NDE1 gene and study the genotype-phenotype correlation. Methods Sixty-one patients and 6, 144 controls who had undergone chromosome microarray analysis（CMA）for neurocognitive impairment or other reasons were analyzed and then divided into three groups: a group of patients with neurocognitive impairment, a prenatal group with abnormal nervous systems, and a prenatal group with normal nervous systems. The fetuses carrying 16p13.11 microduplications were followed up, and the detection rates for the three groups were statistically analyzed. Results 16p13.11 microduplications were not detectable in the group of patients with neurocognitive impairment and the prenatal group with abnormal nervous systems. However, 16p13.11 microduplications encompassing NDE1 gene were detectable in 13 fetuses in the prenatal group with normal nervous systems. Of these, one pregnancy was terminated because of fetal heart defect, the others chose to continue their pregnancy, and no other structural abnormalities were observed in the fetuses. A follow-up on postnatal health of the newborns revealed no apparent abnormalities. There was no significant difference in the detection rate of 16p13.11 microduplication among the three groups （P > 0.05）. Conclusions Combined with the characteristics of low penetrance, 16p13.11 microduplications encompassing the entire NDE1 gene may be benign variants;however, more large-scale studies are needed to evaluate the associated clinical phenotypes. Follow-up to adulthood is recommended for prenatal cases with 16p13.11 microduplication. [ABSTRACT FROM AUTHOR]

Objective To provide further data for clinical treatment of rare autosomal trisomy (RATs), through the analysis of the results of RATs screened by non-invasive prenatal examination (NIPT). Method A total of 85, 525 pregnant women who received NIPT in Maternity and Child Health Hospital Affiliated to Anhui Medical University from January 1, 2018 to June 1, 2022 were selected. Invasive diagnosis was performed for women with high risk results and pregnancy outcome was followed. Result Among the 85, 525 samples, 182 cases of high risk of RATs were detected. A total of 136 cases chose for further diagnosis, and 7 cases were confirmed, including 2 cases of T2, 1 case of T7, 1 case of T9, 1 case of T15, and 2 cases of T16. Positive predictive value (PPV) were 50%, 3.13%, 12.5%, 33.3%, and 12.5%, respectively, and the PPV of other chromosomes was 0. The total PPV was 5.15%. Detailed follow-up was conducted in 121 high-risk pregnant women, and 116 (95.87%) had a live birth, the incidence of fetal growth restriction (FGR) and preterm birth (PTB) were 25.62%, 20.66% respectively. Conclusion RATs screened by NIPT has a lower PPV, but the high risk of RATs has important clinical significance, suggesting that pregnant women are at increased risk of FGR and PTB and need enhanced ultrasound follow-up. [ABSTRACT FROM AUTHOR]