High Fetal Fraction on First Trimester Cell-Free DNA Aneuploidy Screening and Adverse Pregnancy Outcomes. 2020

Lydia L Shook, and Mark A Clapp, and Penelope S Roberts, and Sarah N Bernstein, and Ilona T Goldfarb
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, Massachusetts.

To test the hypothesis that high fetal fraction (FF) on first trimester cell-free deoxyribonucleic acid (cfDNA) aneuploidy screening is associated with adverse perinatal outcomes. This is a single-institution retrospective cohort study of women who underwent cfDNA screening at <14 weeks' gestation and delivered a singleton infant between July 2016 and June 2018. Women with abnormal results were excluded. Women with high FF (≥95th percentile) were compared with women with normal FF (5th-95th percentiles). Outcomes investigated were preterm birth, small for gestational age, and hypertensive disorders of pregnancy. A total of 2,033 women met inclusion criteria. The mean FF was 10.0%, and FF >16.5% was considered high (n = 102). Women with high FF had a greater chance of delivering a small for gestational age infant <fifth percentile, with an adjusted odds ratio of 2.4 (95% confidence interval: 1.1-4.8, p = 0.039). There was no significant association between high FF and either preterm birth or hypertensive disorders of pregnancy. Women with a high FF in the first trimester are at increased risk of delivering a small for gestational age infant <fifth percentile. Further investigation into the clinical implications of a high FF is warranted.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007236 Infant, Small for Gestational Age An infant having a birth weight lower than expected for its gestational age.
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011256 Pregnancy Outcome Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; or SPONTANEOUS ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO. Outcome, Pregnancy,Outcomes, Pregnancy,Pregnancy Outcomes
D011261 Pregnancy Trimester, First The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation. Early Placental Phase,Pregnancy, First Trimester,Trimester, First,Early Placental Phases,First Pregnancy Trimester,First Pregnancy Trimesters,First Trimester,First Trimester Pregnancies,First Trimester Pregnancy,First Trimesters,Phase, Early Placental,Phases, Early Placental,Placental Phase, Early,Placental Phases, Early,Pregnancies, First Trimester,Pregnancy Trimesters, First,Trimesters, First
D005260 Female Females
D005333 Fetus The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN. Fetal Structures,Fetal Tissue,Fetuses,Mummified Fetus,Retained Fetus,Fetal Structure,Fetal Tissues,Fetus, Mummified,Fetus, Retained,Structure, Fetal,Structures, Fetal,Tissue, Fetal,Tissues, Fetal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073888 Cell-Free Nucleic Acids Nucleic acids (DNA or RNA) found circulating in SERUM; PLASMA; or other BODY FLUIDS. Circulating Cell-Free Nucleic Acid,Circulating Nucleic Acid,Cell-Free DNA,Cell-Free Deoxyribonucleic Acid,Cell-Free Nucleic Acid,Cell-Free RNA,Cell-Free Ribonucleic Acid,Circulating Cell-Free Nucleic Acids,Circulating DNA,Circulating Nucleic Acids,Circulating RNA,cfDNA,cfRNA,cirDNA,cirRNA,Acid, Cell-Free Deoxyribonucleic,Acid, Cell-Free Ribonucleic,Acid, Circulating Nucleic,Acids, Circulating Nucleic,Cell Free DNA,Cell Free Deoxyribonucleic Acid,Cell Free Nucleic Acid,Cell Free Nucleic Acids,Cell Free RNA,Cell Free Ribonucleic Acid,Circulating Cell Free Nucleic Acid,Circulating Cell Free Nucleic Acids,DNA, Cell-Free,DNA, Circulating,Deoxyribonucleic Acid, Cell-Free,Nucleic Acid, Cell-Free,Nucleic Acid, Circulating,Nucleic Acids, Cell-Free,Nucleic Acids, Circulating,RNA, Cell-Free,RNA, Circulating,Ribonucleic Acid, Cell-Free
D000081182 Noninvasive Prenatal Testing The analysis of cell-free fetal DNA or the DNA from fetal cells that are biopsied from a pregnant woman’s blood, to screen for genetically-determined traits and genetic abnormalities. Noninvasive Prenatal Diagnosis,Noninvasive Prenatal Screening,Prenatal Cell-Free DNA Screening,Prenatal cfDNA Screening,Prenatal Cell Free DNA Screening,Prenatal Diagnosis, Noninvasive,Prenatal Screening, Noninvasive,Prenatal Testing, Noninvasive,cfDNA Screening, Prenatal

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