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Non-invasive prenatal screening for Emanuel syndrome
Yuqin Luo1,2, Jie Lin2, Yixi Sun1,2
11Department of Reproductive Genetics, Women's Hospital,School of Medicine, Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China.
Molecular Cytogenetics
|March 12, 2020
Summary
Non-invasive prenatal screening (NIPS) effectively detected Emanuel syndrome, validating its use for chromosome microduplication detection. Invasive testing confirmed NIPS results and identified parental balanced rearrangement carriers.
Area of Science:
- Prenatal diagnostics
- Cytogenetics
- Genetics
Background:
- Emanuel syndrome is a rare genetic disorder.
- Non-invasive prenatal screening (NIPS) offers a less invasive approach to prenatal diagnostics.
- Accurate detection of chromosomal abnormalities is crucial for genetic counseling.
Purpose of the Study:
- To validate the accuracy of NIPS in detecting Emanuel syndrome.
- To assess the clinical performance of NIPS for chromosome microduplication detection.
- To confirm NIPS findings using invasive methods.
Main Methods:
- Non-invasive prenatal screening (NIPS) was performed.
- Positive NIPS results for Emanuel syndrome were confirmed via amniocentesis or cordocentesis.
- Fetal and parental samples were analyzed using karyotyping, FISH, and SNP Array.
Main Results:
- NIPS identified two cases with chromosomal abnormalities (11q23.3q25 and 22q11.1q11.21).
- Invasive testing confirmed small supernumerary marker chromosomes (sSMC) and double duplications in fetuses.
- Mothers were identified as balanced carriers of a t(11;22) translocation.
Conclusions:
- NIPS is effective in identifying Emanuel syndrome.
- Positive NIPS results may suggest a parental balanced rearrangement.
- Confirmatory testing following positive NIPS is essential for diagnostic accuracy.
