Antenatal findings and early postnatal outcomes in pregnancies with trisomy 21: a 10 year retrospective review at a tertiary centre.

OBJECTIVE: To examine the antenatal imaging features, intrapartum findings and early postpartum course of pregnancies with trisomy 21 (T21) at a tertiary hospital in the United Kingdom. METHODS: Women with pregnancies diagnosed with T21 on antenatal or post-mortem/postnatal karyotyping, from February 2010-2020. Outcome measures included antenatal imaging findings, fetal growth restriction (FGR), birthweight, mode of delivery and early neonatal outcomes. RESULTS: 76 women were included. There were six intrauterine deaths and 70 livebirths. Thirty-eight (50%) had an antenatal diagnosis and twenty-five (33%) had a suspected diagnosis but declined further testing. The diagnosis was unanticipated in 13 (17%). Cardiac anomalies (35.5%) were the most common antenatal anomaly. Doppler abnormalities were apparent in 48/73 (68%). Eighteen (25.7%) had antenatal FGR. The majority were delivered by Caesarean section, and 21.4% of babies weighed

Super-resolution Reconstruction MRI Application in Fetal Neck Masses and Congenital High Airway Obstruction Syndrome.

OBJECTIVE: Reliable airway patency diagnosis in fetal tracheolaryngeal obstruction is crucial to select and plan ex utero intrapartum treatment (EXIT) surgery. We compared the clinical utility of magnetic resonance imaging (MRI) super-resolution reconstruction (SRR) of the trachea, which can mitigate unpredictable fetal motion effects, with standard 2-dimensional (2D) MRI for airway patency diagnosis and assessment of fetal neck mass anatomy. STUDY DESIGN: A single-center case series of 7 consecutive singleton pregnancies with complex upper airway obstruction (2013-2019). SETTING: A tertiary fetal medicine unit performing EXIT surgery. METHODS: MRI SRR of the trachea was performed involving rigid motion correction of acquired 2D MRI slices combined with robust outlier detection to reconstruct an isotropic high-resolution volume. SRR, 2D MRI, and paired data were blindly assessed by 3 radiologists in 3 experimental rounds. RESULTS: Airway patency was correctly diagnosed in 4 of 7 cases (57%) with 2D MRI as compared with 2 of 7 cases (29%) with SRR alone or paired 2D MRI and SRR. Radiologists were more confident (P = .026) in airway patency diagnosis when using 2D MRI than SRR. Anatomic clarity was higher with SRR (P = .027) or paired data (P = .041) in comparison with 2D MRI alone. Radiologists detected further anatomic details by using paired images versus 2D MRI alone (P < .001). Cognitive load, as assessed by the NASA Task Load Index, was increased with paired or SRR data in comparison with 2D MRI. CONCLUSION: The addition of SRR to 2D MRI does not increase fetal airway patency diagnostic accuracy but does provide improved anatomic information, which may benefit surgical planning of EXIT procedures.

Fetal Hemivertebra at 11 to 14 Weeks' Gestation.

Hemivertebra appears as an angulation of the spine on a coronal section. We evaluated the prevalence of chromosomal defects and outcome of fetuses with hemivertebra detected in the first trimester over a 9-year period in a single tertiary referral unit. There were 10 cases; 9 had other anomalies. Seven couples opted for termination of pregnancy. One pregnancy ended in fetal demise at 16 weeks, and the 2 isolated cases continued the pregnancy with delivery at term. A karyotype analysis was performed in 8 fetuses: 5 found to be euploid and 3 having trisomy 18. Comprehensive ultrasound screening allows early prenatal detection and appropriate counseling.

Ultrasound Features and Management of Body Stalk Anomaly.

OBJECTIVES: This study describes the prenatal diagnosis of body stalk anomaly (BSA) in a large series of affected pregnancies and proposes an algorithm for the differential diagnosis of abdominal wall defects in the first trimester. METHODS: This was a retrospective study of all the cases of BSA diagnosed in our tertiary unit between 2009 and 2015. In all cases, we performed a detailed ultrasound examination with particular emphasis on the appearance of the amniotic membrane and content of the amniotic sac and the coelomic cavity. RESULTS: The study included 17 cases of BSA (15 singleton pregnancies, one dichorionic-diamniotic twin pregnancy discordant for BSA and one case of conjoined twins) at a median gestational age of 12+3 (range 11+0 to 16+6) weeks. In all cases, the liver and bowel were herniated into the coelomic cavity and the amniotic sac was intact containing the rest of the fetus with a normal amount of amniotic fluid; additionally, there was severe kyphoscoliosis and positional abnormalities of the lower limbs. The umbilical cord was absent, but umbilical vessels were seen with color Doppler running from the placenta to the fetus marginally to the eviscerated abdominal content. CONCLUSION: BSA can be easily diagnosed from 11 weeks' gestation. Examination of the amniotic membrane continuity, content of both the amniotic sac and coelomic cavity and a short umbilical cord help in differentiating this condition from other abdominal wall defects.

Bilateral neck cysts as an isolated sonographic finding in the antenatal detection of fetal aneuploidy: a case report.

Isolated fetal lateral neck cysts can represent a cystic hygroma or a developmental remnant cyst. In the absence of an increased nuchal translucency or associated malformations the risk of aneuploidy has been considered negligible. Still, dysmorphology in aneuploid fetuses might not be evident except at a later stage. We report on a case of isolated fetal bilateral neck cysts where aneuploidy was suspected and confirmed despite the lack of associated morphologic abnormalities.

Ultrasound findings after screening for Down syndrome using the integrated test.

OBJECTIVE: To evaluate the incidence and significance of fetal anomalies and "soft markers" after screening for Down syndrome using the integrated test. METHODS: This study is a retrospective study of 2,332 women at University College London Hospitals, United Kingdom. All women were screened for Down syndrome by the integrated test. Subsequently, a detailed anomaly scan was performed. All scan reports and screening results were analyzed statistically using SPSS 11.0 software. RESULTS: Sixty-eight (2.9%) patients were categorized as high risk. There were 12 cases affected by Down syndrome, 10 (10 of 68) in the high-risk group and two (two of 2,264) in the low-risk group. Soft markers or structural anomalies were found in 13.0% of the low-risk group, in 29.4% of the high-risk group, and in 50% of the fetuses affected by Down syndrome. Multiplying the likelihood ratio of each marker with the risk of Down syndrome from the integrated test reduced the false-positive rate of the integrated test from 2.5% to 1.8%, but was accompanied by a reduction in the detection rate from 83% to 75%. CONCLUSION: Absence of structural anomalies or markers should not prevent offering karyotyping to women in the high-risk group, because this would result in a significant reduction in the detection rate of Down syndrome. Women screened as low risk by the integrated test who have isolated soft markers should not be offered an amniocentesis.

Perinatal outcome in fetuses with megacystis in the first half of pregnancy.

OBJECTIVE: To present the outcome of a consecutive series of 19 fetuses referred to our center for megacystis in the first half of the pregnancy. STUDY DESIGN: Retrospective analysis. METHODS: 19 cases of early fetal megacystis were reviewed. Inclusion criteria were the visualization of an enlarged bladder with a maximum longitudinal diameter >10 mm and a gestational age of no more than 19 weeks. RESULTS: The median gestational age at diagnosis was 16 weeks (range 12-19 weeks). The median maximum longitudinal diameter of the fetal bladder at the time of diagnosis was 21 mm (range 11-35 mm). The fetal megacystis was associated with another extra renal anomaly in six cases (30%). There was no fetus with abnormal karyotype. Termination of pregnancy was performed in 11 cases because of the severity of the renal disease. One spontaneous intrauterine death occurred. A vesicoamniotic shunt was inserted in three cases, two of which died in utero. The surviving fetus that was shunted died in the neonatal period from acute renal failure. In the remaining four fetuses, resolution of the megacystis occurred spontaneously (n = 2) or following serial single-needle aspiration (n = 2). One of these had renal insufficiency requiring kidney transplantation. CONCLUSION: The outcome of fetuses with early obstructive uropathy is poor, with or without in utero therapy. Pathophysiology, clinical presentation and outcome of fetuses with early uropathy may differ from those previously described in the latter part of pregnancy.