TY - JOUR
T1 - Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy
AU - Jeppesen, Line Dahl
AU - Hjortshøj, Tina Duelund
AU - Hindkjær, Johnny
AU - Hatt, Lotte
AU - Petersen, Olav Bjørn
AU - Singh, Ripudaman
AU - Schelde, Palle
AU - Andreasen, Lotte
AU - Christensen, Rikke
AU - Lildballe, Dorte L.
AU - Vogel, Ida
N1 - Publisher Copyright:
Copyright © 2022 Jeppesen, Hjortshøj, Hindkjær, Hatt, Petersen, Singh, Schelde, Andreasen, Christensen, Lildballe and Vogel.
PY - 2022/3
Y1 - 2022/3
N2 - 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.
AB - 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.
KW - cell-based NIPT
KW - cell-free NIPT
KW - circulating fetal cells
KW - extravillous trophoblasts
KW - klinefelter syndrome
KW - sex chromosome anomaly
KW - twin pregnancy
UR - http://www.scopus.com/inward/record.url?scp=85127681996&partnerID=8YFLogxK
U2 - 10.3389/fgene.2022.842092
DO - 10.3389/fgene.2022.842092
M3 - Journal article
C2 - 35360877
AN - SCOPUS:85127681996
SN - 1664-8021
VL - 13
JO - Frontiers in Genetics
JF - Frontiers in Genetics
M1 - 842092
ER -