ABSTRACT
OBJECTIVE: To determine whether implementation of cell-free DNA (cfDNA) testing for aneuploidy as a first-tier test and subsequent abolition of first trimester combined testing (FCT) affected the first trimester detection (<14 weeks) of certain fetal anomalies. METHODS: We performed a geographical cohort study in two Fetal Medicine Units between 2011 and 2020, including 705 fetuses with prenatally detected severe brain, abdominal wall and congenital heart defects. Cases were divided into two groups: before (n = 396) and after (n = 309) cfDNA introduction. The primary outcome was the first trimester detection rate (<14 weeks) overall and for non-chromosomal anomalies solely. RESULTS: Overall, gastroschisis, AVSD and HLHS were detected more often in the first trimester in the before group compared to the after group, respectively 54.5% versus 18.5% (p = 0.004), 45.9% versus 26.9% (p = 0.008) and 30% versus 3.4% (p = 0.005). After exclusion of chromosomal anomalies identifiable through cfDNA testing, the detection of AVSD remained higher in the before group (43.3% vs. 9.5%, p = 0.02), leading to a possible earlier gestation at termination. The termination of pregnancy (TOP) rate did not differ among the groups. In the after group, referrals for suspected anomalies following a dating scan between 11 and 14 weeks significantly increased from 17.4% to 29.1% (p < 0.001). CONCLUSION: This study underscores the value of a scan dedicated to fetal anatomy in the first trimester as we observed a decline in the early detection of certain fetal anomalies (detectable in the first trimester) subsequent to the abolition of FCT.
Subject(s)
Cell-Free Nucleic Acids , Pregnancy Trimester, First , Humans , Female , Pregnancy , Adult , Cell-Free Nucleic Acids/blood , Cell-Free Nucleic Acids/analysis , Cohort Studies , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Aneuploidy , Prenatal Diagnosis/methods , Prenatal Diagnosis/statistics & numerical data , Early DiagnosisABSTRACT
OBJECTIVES: An increased nuchal translucency (NT) ≥3.5mm is a well-established marker for congenital anomalies and adverse pregnancy outcome between 11 and 14 weeks of gestation. Little is known about its performance as a screening tool before 11 weeks of gestation. We aimed to investigate in a prospective setting whether fetuses with an increased NT before 11 weeks of gestation are at risk for an adverse pregnancy outcome. METHODS: This is a prospective cohort study including pregnant women with a viable fetus with a NT≥2.5mm and a crown-rump-length (CRL) <45mm. All women were referred to our fetal medicine unit (FMU) and scheduled for a follow-up scan where the NT was remeasured after one week when the CRL was >45mm. Two groups were evaluated: cases with a normalized NT(<3.5mm) and cases with a persistently increased NT (≥3.5mm). We monitored the cases until four weeks after delivery. The main outcome was a composite adverse outcome of aneuploidies, other genetic disorders, structural anomalies and pregnancy loss. We performed subgroup analyses of NT thickness at inclusion and normalized or persistently increased NT at follow-up. RESULTS: We included 109 cases of which 35.8% (39/109) had an adverse pregnancy outcome. Of these 64.1% (25/39) were aneuploidies which corresponds to 22.9% (25/109) aneuploidies in total. The subgroups of NT thickness at inclusion of 2.5-3.4, 3.5-4.4 and ≥4.5mm showed abnormal outcomes in 22.0% (9/41), 40.0% (18/45), 52.2% (12/23) respectively. In fetuses with a normalized NT and without ultrasound abnormalities at follow-up scan, the incidence of adverse outcome was 8.5% (5/59), of which 5.1% (3/59) were aneuploidies. CONCLUSION: Fetuses with an early increased NT thickness are at considerable risk of an adverse pregnancy outcome, even if the NT normalizes after 11 weeks. Not all congenital anomalies can be diagnosed with routine first-trimester screening such as non-invasive prenatal testing and/or a first-trimester anomaly scan. Therefore, expectant parents should always be referred to a FMU for detailed ultrasonography. Invasive prenatal testing should be offered if an increased nuchal translucency of ≥2.5mm is observed before 11 weeks of gestation. This article is protected by copyright. All rights reserved.
