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Published on: August 17, 2022
16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up
Yuchun Pan1, Yu Hu1, Chonglan Gao1
1Department of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic and Science and Technology of China, Chengdu, 611731, Sichuan, China.
Background:
16p13.11 Microduplication is a rare genetic disorder with variable expression and incomplete penetrance, primarily reported in adults and children, with limited information available on fetal cases. This study aims to analyze the characteristics of prenatal diagnosis indications and postnatal follow-up in fetuses with 16p13.11 microduplication, and to explore the genotype-phenotype correlation for improving genetic counseling and patients' care.
Methods:
A total of 4552 pregnant women who underwent amniocentesis for SNP-array were retrospectively analyzed at the prenatal diagnosis department of Chengdu Women's and Children's Central Hospital from March 2022 to February 2024.
Results:
SNP-array identified a microduplication at the 16p13.11 region in 14 fetuses, with sizes ranging from 0.8 to 1.65 Mb. Among the indications for prenatal diagnosis, Case 1, 13, 14 (3/14) presented a high-risk screening result for Down syndrome, Case 5, 8, 10,11 (4/14) demonstrated advanced maternal age, Case 7 (1/14) demonstrated abnormal reproductive history, Case 4 (1/14) demonstrated the pregnant woman was a known carrier of the 16p13.11 microduplication, and Case 2, 3, 6, 9, 12 (5/14) demonstrated ultrasound structural abnormalities. Only 5/14 underwent family verification, and all were inherited from one parent. 2/14 chose to terminate pregnancy, while the remaining cases resulted in term delivery. During follow-up, all but three cases showed no significant abnormalities: one had severe sensorineural hearing loss, one exhibited mild developmental delay, and one was diagnosed with a ventricular septal defect.
Conclusions:
These findings indicate that fetuses with 16p13.11 microduplication typically exhibit a nonspecific prenatal phenotype but may be highly correlated with ultrasound abnormalities. Most affected individuals were in good health during follow-up. Furthermore, a systematic review of medical history, genetic diagnosis, and follow-up data could be useful for genetic counseling and patients' growth management.
Keywoeds:
16p13.11; microduplication; SNP-array; prenatal diagnosis; follow-up.
Insights
Prenatal diagnosis of 16p13.11 microduplication revealed nonspecific fetal phenotypes but frequent ultrasound abnormalities. Most infants with this genetic condition showed normal postnatal development, highlighting the importance of genetic counseling and follow-up.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Pediatrics
Background:
- 16p13.11 microduplication is a rare genetic disorder with limited data on fetal cases.
- Understanding prenatal diagnosis and postnatal outcomes is crucial for affected pregnancies.
Purpose of the Study:
- To analyze prenatal diagnosis indications for fetuses with 16p13.11 microduplication.
- To assess postnatal follow-up and explore genotype-phenotype correlations.
Main Methods:
- Retrospective analysis of 4552 pregnant women undergoing amniocentesis for SNP-array.
- Identification and characterization of 14 fetuses with 16p13.11 microduplication.
Main Results:
- Microduplications ranged from 0.8 to 1.65 Mb.
- Indications included high-risk screening, advanced maternal age, abnormal history, known carrier status, and ultrasound abnormalities.
- Most affected infants had normal postnatal follow-up, with a few exhibiting sensorineural hearing loss, developmental delay, or VSD.
Conclusions:
- Fetuses with 16p13.11 microduplication often present with nonspecific prenatal phenotypes but may show ultrasound abnormalities.
- Postnatal outcomes are generally favorable, emphasizing the value of systematic review for genetic counseling and patient management.
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