Outcomes following the detection of fetal edema in early pregnancy prior to non-invasive prenatal testing.

OBJECTIVE: To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non-invasive prenatal testing (NIPT). METHODS: A retrospective study of women undergoing pre-NIPT ultrasound with fetal crown-rump length (CRL) of 28 to 44 mm was conducted at a tertiary obstetric ultrasound clinic in Melbourne, Australia. Cases of reported fetal edema were included, and subclassified as isolated nuchal edema (>2.2 mm) or generalized edema/hydrops by two operators blinded to outcomes. RESULTS: We identified 104 cases of fetal edema. Nuchal edema and generalized edema were present in 40 (38.5%) and 64 (61.5%) cases, respectively. Relevant chromosomal anomalies were identified in 19.2% (20/104), occurring in 10.0% (4/40) of the nuchal edema and 25.0% (16/64) of the generalized edema/hydrops cases. Structural anomalies with normal karyotype occurred in four (3.8%) additional cases. Miscarriage occurred in four cases (3.8%) and termination of pregnancy in 18 cases (17.3%). Among cases that reached the 11 to 13+6 weeks ultrasound, the edema resolved in 81.9% and these cases had less adverse outcomes than those with NT≥3.5 mm (10.9% vs 76.5%, P < .001). CONCLUSIONS: Fetal edema in early pregnancy is associated with a high incidence of structural and/or chromosomal abnormalities; these rates increase with progressive severity.

How to perform a sonographic morphological assessment of the fetus at 11-14 weeks of gestation.

INTRODUCTION: First-trimester ultrasound is widely accepted as part of standard care in many countries. With improvements in equipment, expertise and increasing number of technical studies describing imaging techniques, the detection rate for major fetal anomalies in the first trimester continues to rise and can be as high as 60% in high-risk populations. METHODS: We set out to create a systematic pictorial guide for trained ultrasound providers to describe the common anatomical structures that are identifiable in the first trimester with provided images. In addition to normal anatomical structures, a number of anomalies with high detection rates are listed. CONCLUSION: A large proportion of the major fetal abnormalities can be detected in the first trimester. A systematic approach is essential to ensure that anomalies are equally likely to be detected for patients of any risk background.