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Smith-Lemli-Opitz Syndrome

Study finds link between maternal PCOS and aneuploidy screening outcomes during pregnancy

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Although Polycystic Ovary Syndrome (PCOS) may impact certain aspects of aneuploidy screening outcomes and pregnancy health, it does not appear to have a significant effect on the risk of Smith-Lemli-Opitz Syndrome (SLOS) specifically, according to a study.

Aneuploidy refers to the presence of an abnormal number of chromosomes in a cell and is responsible for certain birth defects and genetic disorders. Aneuploidy screening tests, conducted in the first and second trimesters, are important for identifying potential risks to the developing fetus.

The case-control study involved 90 pregnant women with PCOS and 90 healthy pregnant women. Researchers assessed various factors, including Free Beta-Human Chorionic Gonadotropin (Free-β-HCG), inhibin-A, Alpha Fetoprotein (AFP), HCG, Plasma Protein A (PAPP-A), and Unconjugated Estriol (UE3) levels, as well as the risks of specific aneuploidies such as trisomy 13, trisomy 18, trisomy 21, SLOS, Neural Tube Defects (NTD), and pre-eclampsia.

Levels of Free-β-HCG, inhibin-A, and AFP were significantly higher in women with PCOS compared to the healthy control group, and the risks of pre-eclampsia and trisomy 18 were found to be elevated in women with PCOS. However, no significant differences were observed in the levels of HCG, PAPP-A, UE3, and the risks associated with trisomy 13, trisomy 18, trisomy 21, SLOS, and NTD between the 2 groups.

Reference
Haivadi NH, Jahanian Sadatmahalleh S, Razavinia F, et al . Effect of maternal polycystic ovary syndrome (PCOS) on screening of aneuploidy in the first and second trimesters. J Ovarian Res. 2023;16(1):167. doi: 10.1186/s13048-023-01251-w. PMID: 37605237; PMCID: PMC10441707.

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