Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome
Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the diagnostic process for Prader–Will...
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MDPI AG
2023-02-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/4/580 |
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| author | Da Kyung Hong Ji Eun Park Kyung Min Kang Sung Han Shim So Hyun Shim You Jung Han Hee Young Cho Dong Hyun Cha |
| author_facet | Da Kyung Hong Ji Eun Park Kyung Min Kang Sung Han Shim So Hyun Shim You Jung Han Hee Young Cho Dong Hyun Cha |
| author_sort | Da Kyung Hong |
| collection | DOAJ |
| description | Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the diagnostic process for Prader–Willi syndrome (PWS), we aim to describe the need for additional prenatal diagnostic testing for confirming UPD in fetuses diagnosed with RATs via NIPT and its clinical implications. NIPT was performed using the massively parallel sequencing (MPS) method, and all pregnant women with RATs underwent amniocentesis. After confirming the normal karyotype, short tandem repeat (STR) analysis, methylation-specific PCR (MS-PCR), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were performed to detect UPD. Overall, six cases were diagnosed with RATs. There was a suspicion of trisomies of chromosomes 7, 8, and 15 in two cases each. However, these cases were confirmed to have a normal karyotype using amniocentesis. In one of six cases, PWS caused by maternal UPD 15 was diagnosed using MS-PCR and MS-MLPA. We propose that in cases where RAT is detected by NIPT, UPD should be considered following trisomy rescue. Even if amniocentesis confirms a normal karyotype, UPD testing (such as MS-PCR and MS-MLPA) should be recommended for accurate assessment, as an accurate diagnosis can lead to appropriate genetic counseling and improved overall pregnancy management. |
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| issn | 2075-4418 |
| language | English |
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| publishDate | 2023-02-01 |
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| spelling | doaj.art-fb64abee88b743d68790f5b52c8c7a942023-11-16T19:59:56ZengMDPI AGDiagnostics2075-44182023-02-0113458010.3390/diagnostics13040580Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi SyndromeDa Kyung Hong0Ji Eun Park1Kyung Min Kang2Sung Han Shim3So Hyun Shim4You Jung Han5Hee Young Cho6Dong Hyun Cha7Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaGenetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaGenetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaGenetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaDepartment of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaDepartment of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaDepartment of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaDepartment of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of KoreaRare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the diagnostic process for Prader–Willi syndrome (PWS), we aim to describe the need for additional prenatal diagnostic testing for confirming UPD in fetuses diagnosed with RATs via NIPT and its clinical implications. NIPT was performed using the massively parallel sequencing (MPS) method, and all pregnant women with RATs underwent amniocentesis. After confirming the normal karyotype, short tandem repeat (STR) analysis, methylation-specific PCR (MS-PCR), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were performed to detect UPD. Overall, six cases were diagnosed with RATs. There was a suspicion of trisomies of chromosomes 7, 8, and 15 in two cases each. However, these cases were confirmed to have a normal karyotype using amniocentesis. In one of six cases, PWS caused by maternal UPD 15 was diagnosed using MS-PCR and MS-MLPA. We propose that in cases where RAT is detected by NIPT, UPD should be considered following trisomy rescue. Even if amniocentesis confirms a normal karyotype, UPD testing (such as MS-PCR and MS-MLPA) should be recommended for accurate assessment, as an accurate diagnosis can lead to appropriate genetic counseling and improved overall pregnancy management.https://www.mdpi.com/2075-4418/13/4/580noninvasive prenatal testuniparental disomyPrader–Willi syndromemethylation analysisrare autosomal trisomyamniocentesis |
| spellingShingle | Da Kyung Hong Ji Eun Park Kyung Min Kang Sung Han Shim So Hyun Shim You Jung Han Hee Young Cho Dong Hyun Cha Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome Diagnostics noninvasive prenatal test uniparental disomy Prader–Willi syndrome methylation analysis rare autosomal trisomy amniocentesis |
| title | Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome |
| title_full | Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome |
| title_fullStr | Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome |
| title_full_unstemmed | Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome |
| title_short | Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome |
| title_sort | prenatal diagnosis of uniparental disomy in cases of rare autosomal trisomies detected using noninvasive prenatal test a case of prader willi syndrome |
| topic | noninvasive prenatal test uniparental disomy Prader–Willi syndrome methylation analysis rare autosomal trisomy amniocentesis |
| url | https://www.mdpi.com/2075-4418/13/4/580 |
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