Stina Lou, Anna Ryberg, Naja Becher, Ida Charlotte Bay Lund, Ida Vogel
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Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.
Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.
Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results. Interviews were analyzed using reflexive thematic analysis.
Results: Four women terminated pregnancy following the MosT16 CVS result, emphasizing the emotional burden of waiting for amniocentesis and concerns about fetal involvement and FGR risk. Four women opted to await amniocentesis following which one terminated pregnancy due to fetal involvement, while three continued their pregnancies (one normal result, two low-percentage fetal involvement results). During pregnancy, all three fetuses were small for gestational age, and the concerns about their growth were burdensome for expectant parents. Two women delivered prematurely, but all three described their babies as healthy.
Conclusion: The prenatal MosT16 CVS result represents a critical decision point, requiring consideration of both fetal involvement and FGR risk. Thus, genetic counseling should be combined with counseling from obstetrics/fetal medicine specialists.
期刊介绍：
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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