Increased nuchal translucency after low-risk noninvasive prenatal testing: What should we tell prospective parents?

Three decades ago, the observation that first trimester fetuses with excess fluid accumulation at the back of the neck were more likely to be aneuploid, gave rise to a new era of prenatal screening. The nuchal translucency (NT) measurement in combination with serum biomarkers and maternal age, resulted in the first trimester combined screening (FTCS) program. The introduction of noninvasive prenatal testing (NIPT) over the past decade has introduced the option for parents to receive highly sensitive and specific screening information for common trisomy from as early as 10 weeks gestation, altering the traditional pathway FTCS pathway. The retention of the 11-13-week NT ultrasound remains important in the detection of structural anomalies; however, the optimal management of pregnancies with a low-risk NIPT result and an isolated increased NT measurement in an era of advanced genomic testing options is a new dilemma for clinicians. For parents, the prolonged period between the initial diagnosis in first trimester, and prognostic information at each successive stage of investigations up to 22-24 weeks, can be emotionally challenging. This article addresses the common questions from parents and clinicians as they navigate the uncertainty of having a fetus diagnosed with an increased NT after a low-risk NIPT result and presents suggested approaches to management.

Incidental Fetal Ultrasound Findings: Interpretation and Management.

Ultrasonography is a common component of prenatal care worldwide and is often used in early pregnancy to determine gestational age, number of fetuses, fetal cardiac activity, and placental location. Patients and their families may also consider ultrasonography a social event, as it provides confirmation and reassurance of a normal pregnancy. Ultrasound screening is typically scheduled in the second trimester to visualize fetal anatomy and confirm gestational age. Most ultrasound examinations are reassuring, but some incidentally identify structural anomalies and soft markers for aneuploidy, making it necessary for health care providers to correctly interpret these findings. The health care provider's ability to prepare patients prior to the ultrasound and deliver the necessary information needed to make informed decisions regarding any follow-up screening or diagnostic testing is critical to reducing parental anxiety. Preparation for the anatomic survey should include counseling for normal and abnormal findings. The ethical concepts of patient autonomy and shared decision making are used as a guide in providing this critical information and enabling informed choices during follow-up for incidental ultrasound findings.

Midwives' attitudes to and knowledge about a newly introduced foetal screening method.

A number of screening procedures are offered by midwives during pregnancy and the number is increasing rapidly. The measurement of nuchal translucency is a fairly new ultrasound method for antenatal screening, primarily for Down syndrome. The results give a better risk calculation than maternal age alone and can mean a decrease in the number of invasive procedures needed to identify this syndrome prenatally. The aim of this study was to gain insight into the midwives' point of view concerning the introduction of the method in two different hospitals. In one hospital it had been introduced as part of a research project while in the other it had been integrated as an offer in the antenatal care programme. A questionnaire was sent to the 80 midwives working in the antenatal clinics serving these two hospitals. A total of 79% of the questionnaires were answered. The results indicate that in both districts, the similarities are greater than the differences with regard to the midwives' education, knowledge and their own opinions of their ability to inform pregnant women about the method. Although most of the respondents were positive to it, a number of midwives felt that, in general, information about foetal diagnosis was a difficult part of their work, mentioning both ethical and practical aspects. This highlights the need for continuing education, standardized policy and an ongoing ethical debate.