Objectives
To assess the association between low fetal fraction (FF) in prenatal cell‐free DNA (cfDNA) testing and adverse pregnancy outcomes.
Methods
We conducted a retrospective cohort study of participants of the TRIDENT‐2 study (Dutch nationwide government‐supported study offering cfDNA screening for fetal aneuploidies) who received a failed test result due to low FF (<4%) between April 2017 until February 2018. Outcome measures included pregnancy‐induced hypertension (PIH), pre‐eclampsia (PE), small for gestational age neonates (SGA), spontaneous preterm birth (sPTB), gestational diabetes mellitus (GDM), chromosomal aberrations, and congenital structural anomalies.
Results
Test failure due to low FF occurred in 295 women (1.12% of tests performed). Information regarding pregnancy outcomes was available for 96.3% of these women. The incidence of PIH, PE, SGA, sPTB, and GDM was 11.2%, 4.1%, 7.3%, 5.1%, and 14.8%, respectively. The prevalence of chromosomal aberrations and congenital structural anomalies was 1.4% and 4.1%, respectively. Incidences of PIH, PE ≥ 34 weeks of gestation, GDM, and prevalence of aneuploidy and congenital structural anomalies were higher in women with low FF compared to the general Dutch obstetric population.
Conclusion
Low FF is associated with adverse pregnancy outcomes. The value of FF in the prediction of these outcomes needs to be further established.
Objective
Low fetal fraction (LFF) in prenatal cell‐free DNA (cfDNA) testing is an important cause of test failure and no‐call results. LFF might reflect early abnormal placentation and therefore be associated with adverse pregnancy outcome. Here, we review the available literature on the relationship between LFF in cfDNA testing and adverse pregnancy outcome.
Method
A systematic literature search was conducted in MEDLINE and EMBASE up to November 1, 2020.
Results
Five studies met the criteria for inclusion; all were retrospective observational cohort studies. The cohort sizes ranged from 370 to 6375 pregnancies, with all tests performed in the first trimester or early second trimester. A 4% cutoff for LFF was used in two studies, two studies used the 5th and 25th percentiles, respectively, and one study used a variety of cutoff values for LFF. LFF in prenatal cfDNA testing was observed to be associated with hypertensive disease of pregnancy, small for gestational age neonates, and preterm birth. Conflicting results were found regarding the association between LFF and gestational diabetes mellitus.
Conclusions
LFF in cfDNA testing is associated with adverse pregnancy outcome,specifically pregnancy‐related hypertensive disorders, preterm birth, and impaired fetal growth related to placental dysfunction. Since the available evidence is limited, a large prospective cohort study on the relationship between fetal fraction and pregnancy outcomes is needed.
Objective: The purpose of this study was to describe effectiveness of and patient satisfaction with NovaSure ® endometrial ablation in patients with dysfunctional uterine bleeding. NovaSure procedures performed in the outpatient clinic (OPC) and the operating theater (OT) were compared. Design: This was a retrospective cohort study. Materials and Methods: The study was conducted on all NovaSure endometrial ablation procedures (n=112) performed between April 2007 and October 2008 on patients diagnosed with dysfunctional uterine bleeding in the Meander Medical Centre, Amersfoort, The Netherlands. Data were collected from medical records and a retrospective questionnaire. Main outcome measures were effectiveness: the presence of amenorrhea, dysmenorrhea and blood clots, and menstruation duration. Pain experience and patient satisfaction scores ranged from 0 to 10. Results: After NovaSure treatment an amenorrhea rate of 51.4% was found. The mean menstruation duration significantly decreased, as well as the presence of blood clots and dysmenorrhea (p<0.001). Mean patient satisfaction score was 8.5 and patient satisfaction was significantly higher in the OT group (p=0.027). A hysterectomy rate of 1.9% was noted after a follow-up period of 6 months up to 2 years. Conclusions: NovaSure endometrial ablation is an effective treatment option for patients with dysfunctional uterine bleeding, when performed in both the OPC and OT. NovaSure treatment in the OPC is good option for a selected patient population. Significantly lower patient satisfaction was found in the OPC, probably resulting from the pain experienced by these patients. High pain experience during menstruation prior to the NovaSure predicts for high pain experience of the NovaSure treatment. Therefore, treatment in the OPC is recommended only for patients without dysmenorrhea.
The Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with a hemizygous deletion of chromosome 4p16.3. It is characterized by pre-and postnatal growth restriction, microcephaly, profound learning disability and seizure disorder, a 'Greek helmet' facies, and closure defects (cleft lip or palate, coloboma of the eye and cardiac septal defects). Prenatal diagnosis of the WHS (deletion 4p syndrome) has been established after karyotyping mainly for intrauterine growth restriction often with hypospadias, facial clefting and diaphragmatic hernia. Here we report the prenatal diagnosis of WHS at 19 weeks with increased nuchal translucency at 12 weeks, but a favourable integrated screening test due to low levels of B-human chorionic gonadotrophin (hCG). Low levels of hCG have been previously reported in Wolf-Hirschhorn syndrome.
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