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.

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.

Objectives: To assess the incidence and outcomes of genetic polymorphism in high-risk obstetric and subfertile populations. Methods: From January 2017 to February 2019, 78 patients were detected to have genetic polymorphisms. 35% are high-risk obstetric women who were followed up until their outcomes and 65% are from the subfertile group who are currently being followed up with assisted reproductive techniques. Results: Out of the pregnancies 89% delivered, 4% had miscarriages and 7% are being followed up with high-risk fetomaternal surveillance. Polymorphisms identified in only the subfertile population include Yqh+, Iqh+, 9qh-, Pstk+, 47XXY[1]/46XY[19] and 45XX, t(13, 14)(q12.1, q11.2).The incidence of detected aberrations in this group are Yqh+(4%), Yqh-(12%), Iqh+(2%), 9qh+(32%), 9qh-(4%), Pstk+(8%), 13pstk+(46%), 14pstk+(40%), 15pstk+ (50%), 21pstk+(58%), 22pstk+(42%), 14PSQ(2%), 47XXY[1]/ 46XY[19](2%) and 45XX, t(13, 14)(q12.1, q11.2)(2%). The incidence of genetic abnormalities in the subfertile population consists of Yqh+(4%), Yqh-(10%), 9qh+(24%), 9qh-(4%), Pstk+(8%), 13pstk+(26%), 14pstk+(24%), 15pstk+(34%), 21pstk+(36%), 22pstk+(26%), 47XXY(1)/46XY(19)(2%) and 45XX, t(13, 14)(q12.1, q11.2)(2%). The commonest abnormalities identified in the high risk obstetric group include 9qh+, 13pstk+, 14pstk+, 15pstk+, 21pstk+ and 22pstk+. The incidence of genetic abnormalities consists of Yqh-(4%), 9qh+(15%), 13pstk+(48%), 14pstk+(30%), 15pstk+(30%), 21pstk+(41%), 22pstk+(26%), and 14PSQ(4%). Genetic abnormalities associated with delivery of a low birth weight neonate are 9qh+, 13pstk+, 14pstk+, 15pstk+, 21pstk+ and 22pstk+. Incidence of recurrent miscarriages in this high risk population had underlying genetic abnormalities of Yqh+, 1qh+, 9qh+, pstk+, 13pstk+, 14pstk+, 15pstk+, 21pstk+, 22pstk+ and 14PSQ. Conclusions: Genetic polymorphism is responsible for bad pregnant and fertility outcome in high risk population. Further studies are needed to identify genetic variations and their contribution to bad outcomes. OP05.07Outcomes 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 oedema on early ultrasound prior to non-invasive prenatal testing (NIPT). Design: Retrospective cohort study. Setting: Tertiary obstetric ultrasound clinic in Melbourne, Australia. Population: Women undergoing pre-NIPT ultrasound examination from January 2013-November 2018 with fetal crown-rump length (CRL) of 28-43 mm. Methods: Cases of reported fetal oedema or increased nuchal thickness were included. Clinical information was collected from the clinic's patient management database. Oedema was subclassified as isolated nuchal oedema (>2.2 mm) or generalised oedema/hydrops by two operators blinded to pregnancy outcomes. Main Outcome Measures: Incidence of chromosomal or structural defects following the detection of fetal oedema. Results: We identified 104 cases of reported fetal oedema with a CRL between 28-44 mm. Nuchal oedema and generalised oedema were present in 40 (38.5%) and 64 (61.5%) cases respectively. Outcomes were available in 93 cases (89.4%). Relevant chromosomal anomalies were identified in 21.5% (20/93), occurring in 12.1% (4/33) of the nuchal oedema and 26.7% (16/60) of the generalised oedema/hydrops cases. Structural anomalies with normal karyotype were found in an additional four (4.3%) cases. Miscarriage occurred in four (4.3%) cases and termination of pregnancy in 18 cases (19.4%). Oedema resolved by 11-13+6 weeks in 81.9% and these cases had less adverse outcomes than those with NT[?]3.5 mm (10.9% vs 76.5%, p<0.001). Conclusions: Fetal oedema in early pregnancy is associated with a high incidence of structural or chromosomal abnormalities, and these rates increase with progressive severity.