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.

Prenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations.

PURPOSE: To: (1) Evaluate intrauterine MRI (iuMRI) findings in fetuses with suspected cCMV and correlate these with final diagnosis(es). (2) Correlate iuMRI in cases of confirmed cCMV with clinical outcomes. METHODS: Retrospective cohort of iuMRI referrals for suspected cCMV between 2010 and 2018. Confirmed cCMV defined as positive amniotic fluid or postnatal CMV polymerase chain reaction (PCR) test and excluded cCMV defined by negative postnatal PCR. RESULTS: Twenty-nine singleton fetuses had iuMRI for suspected cCMV (median gestation 28 weeks (IQR 24-32). No postnatal outcome (n = 6) and no cCMV ascertainment (n = 5) provided 18 cases for analysis. cCMV positive (n = 11): three fetal deaths occurred, one spontaneous and two terminations of pregnancy (TOP), one for microcephaly and one for extensive polymicrogyria; 4/ 8 survivors had normal US and iuMRI with normal newborn hearing screen (AABR)/ neurological examination; two had polymicrogyria and cerebral palsy (CP) GMFCS II and V; 1 had isolated ventriculomegaly and failed newborn AABR; 1 had ventriculomegaly with germinolytic cysts, normal AABR and development at 3/12. cCMV negative (n = 7): Germinolytic cysts were present in 4 cases with 2/4 also having callosal hypogenesis and postnatal genetic and clinical diagnosis of mitochondrial disorder. The third and fourth had a normal newborn metabolic screen and neurological examination. Three deaths were due to toxoplasmosis (n = 1), TOP for severe ventriculomegaly (n = 1) and bilateral schizencephaly (n = 1). CONCLUSIONS: Polymicrogyria in fetuses with cCMV, undetected with prenatal US, was associated with CP. Germinolytic cysts were non-specific for cCMV and due to mitochondrial disorders when callosal hypogenesis was present.