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. 2022 Dec 7;22(1):913.
doi: 10.1186/s12884-022-05267-w.

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

Meiying Cai  1 , Yanting Que  2 , Xuemei Chen  1 , Yuqing Chen  1 , Bin Liang  1 , Hailong Huang  3 , Liangpu Xu  4 , Na Lin  5
Affiliations

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

Meiying Cai et al. BMC Pregnancy Childbirth. .

Abstract

Objectives: 16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described. Here, we have analyzed prenatal ultrasound phenotypic characteristics associated with 16p13.11 microdeletion/microduplication, in order to improve the understanding, diagnosis and monitoring of this disease in the fetus.

Methods: A total of 9000 pregnant women who underwent invasive prenatal diagnosis for karyotyping and SNP-array were retrospectively analyzed in tertiary referral institutions from October 2016 to January 2022.

Results: SNP-array revealed that 20 fetuses had copy number variation (CNV) in the 16p13.11 region, out of which 5 had 16p13.11 microdeletion and the rest showed microduplication, along with different ultrasound phenotypes. Furthermore, 4/20 cases demonstrated structural abnormalities, while the remaining 16 cases were atypical in ultrasound. Taken together, 16p13.1 microdeletion was closely related to thickened nuchal translucency, while 16p13.11 microduplication was more closely associated with echogenic bowel. Only 5/15 fetuses were verified by pedigree, with one case of 16p13.11 microdeletion being de novo, and the other cases of 16p13.11 microduplication were inherited from one parent. In 4/20 cases, the pregnancy was terminated. Except for one case with short stature and another one who underwent lung cystadenoma surgery, no abnormalities were reported in the other cases during follow-up.

Conclusion: Fetuses with 16p13.11 microdeletion/microduplication had no characteristic phenotype of intrauterine ultrasound and was in good health after birth, thus providing a reference for the perinatal management of such cases.

Keywords: 16p13.11; Nuchal translucency; Phenotypic characteristics; SNP-array; microdeletion/microduplication.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
16p13.11 microdeletion/microduplication detected using SNP-array. SNP-array revealed 16p13.11 microdeletion in fetus E2510, E2703, P5107, R2823 and R3676, 16p13.11 microduplication in fetus E2797, E3061, P2758, P3650, P5980, P6436, P8174, R358, R476, R857, R1046, R1460, R2229, R3115, and R3753
See this image and copyright information in PMC

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