Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy
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Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefore, there is a need for noninvasive testing options that can test twin pregnancies at an early gestational age and ideally test the twins individually. Case presentation: A pregnant woman opted for cell-based NIPT at GA 10 + 5. As cell-based NIPT is not established for use in twins, the test was provided in a research setting only, when an ultrasound scan showed that she carried dichorionic twins. Materials and Methods: Fifty mL of peripheral blood was sampled, and circulating fetal cells were enriched and isolated. Individual cells were subject to whole-genome amplification and STR analysis. Three fetal cells were analyzed by chromosomal microarray (aCGH). Results: We identified 20 fetal cells all sharing the same genetic profile, which increased the likelihood of monozygotic twins. aCGH of three fetal cells showed the presence of two X chromosomes and a gain of chromosome Y. CVS from both placentae confirmed the sex chromosomal anomaly, 47,XXY and that both fetuses were affected. Conclusion: NIPT options can provide valuable genetic information to twin pregnancies that help the couples in their decision-making on prenatal testing. Little has been published about the use of cell-based NIPT in twin pregnancies, but the method may offer the possibility to obtain individual cell-based NIPT results in dizygotic twins.
Original language | English |
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Article number | 842092 |
Journal | Frontiers in Genetics |
Volume | 13 |
ISSN | 1664-8021 |
DOIs | |
Publication status | Published - 2022 |
Bibliographical note
Publisher Copyright:
Copyright © 2022 Jeppesen, Hjortshøj, Hindkjær, Hatt, Petersen, Singh, Schelde, Andreasen, Christensen, Lildballe and Vogel.
- cell-based NIPT, cell-free NIPT, circulating fetal cells, extravillous trophoblasts, klinefelter syndrome, sex chromosome anomaly, twin pregnancy
Research areas
ID: 309122695