Umbilical artery Thrombosis: A case report of prenatal diagnosis and systematic review of the literature.

Umbilical Artery Thrombosis (UAT) is an extremely rare complication of pregnancy strongly associated with severe fetal distress and death. The pathogenesis is still unclear but it is often associated with anatomical cord abnormalities that leads to blood stasis and thrombosis formation. Other possible risk factors are maternal thrombophilia, autoimmune disease, gestational diabetes, hypertension disorders of pregnancy and Rh-alloimmunization. The most common clinical symptom is the reduction of fetal movements. The diagnosis is histopathological, but it can be suspected by clinical and prenatal ultrasound findings. Generally, the first choice therapy is the immediate delivery with cesarean section. This study reported a case of a spontaneous intrauterine UAT in a low-risk pregnancy and a systematic review of the literature on clinical, ultrasound and histopathological findings of UAT, in order to help clinicians in the diagnostic process and management of this rare complication.

Invasive prenatal diagnosis in the era of cell-free fetal DNA: experience at a single center.

BACKGROUND: We aimed to assess procedure-related risk of fetal loss associated with amniocentesis and chorionic villus sampling and compare amniocentesis and chorionic villus sampling with cell-free fetal DNA in identifying chromosomal abnormalities. METHODS: A retrospective observational study on 4712 women with singleton pregnancy who underwent invasive prenatal diagnosis, from January 2010 to December 2019. Postprocedural miscarriage rate (before 24+0 weeks gestation) was determined for the whole population and for the group of women aged ≥35 years who underwent the procedure for the sole maternal age. RESULTS: Miscarriage rate following amniocentesis and chorionic villus sampling were 0.50% and 1.25%, respectively. In our population of women undergoing invasive procedure for advanced maternal age cell-free fetal DNA would have identified only the 49 cases of trisomy 21, 13 and 18, whereas the other 21 more subtle chromosomal anomalies, diagnosed by amniocentesis and chorionic villus sampling, would have been missed. CONCLUSIONS: Patients who opt for cell-free fetal DNA test should be informed of the screening nature of the test and the possibility of false positive results. Invasive prenatal testing has probably lower risks than previously reported and has unquestionable advantages such as the certainty of diagnosis and the ability to detect a higher number of chromosomal abnormalities, when compared with cell-free fetal DNA.

Elevated nuchal translucency, is it time to discuss the cut off?

OBJECTIVE: We aimed to evaluate pregnancy and postnatal outcomes of fetuses with NT between 95th and 99th percentile at first trimester and whether they could benefit from further investigations rather that routine scans. METHODS: Multicenter retrospective observational study which involved all cases with NT between 95th and 99th percentile from January 2015 to December 2020. Unfavorable outcome was considered as: miscarriage or intrauterine fetal death (IUFD), chromosomal abnormality/genetic syndrome, major malformation or neurodevelopmental delay. Study population outcomes were compared with general population. RESULTS: The rate of unfavorable outcome was 25.44% (167 out of 667). We reported: 6 (0.90%) second trimester miscarriage or IUFD, 90 (13.49%) chromosomal abnormalities/genetic syndromes, 57 (8.55%) major malformations, 13 (1.95%) cases of neurodevelopmental delay. The incidence of chromosomal abnormalities/genetic syndromes and major malformations were significantly higher (OR 6.99 (IC 95% 4.33-11.28), P < 0.001 and OR 17.77 (IC 95%7.22-43.75), P < 0.001 respectively) compared to the general population. The incidence of neurodevelopmental delay was not increased (OR of 0.64 CI 95% 0.33-1.24 P = 0.185). CONCLUSIONS: Fetuses with NT between 95th and 99th percentile have an increased risk of pregnancy and postnatal adverse outcomes. According to our data it is reasonable to consider a lower cut of NT (NT > 95th percentile) for offering further investigations such as detailed ultrasound scan, fetal echocardiography and counseling where the option of performing fetal karyotype and CGH array should be discussed.

Obstetric and Neonatal Outcomes in Mild Idiopathic Polyhydramnios.

Background: Idiopathic polyhydramnios is a controversial clinical condition, as data on perinatal outcomes are conflicting and vary depending on the severity of the condition. The aim of the present study was to compare obstetric and neonatal outcomes between pregnant women with mild idiopathic polyhydramnios and a control population. Methods: A retrospective cohort study was performed at a single university hospital comparing the obstetrics and neonatal outcomes of pregnancies with mild idiopathic polyhydramnios (n = 109) and control pregnancies (n = 2550). Results: Cesarean section (CS) was significantly increased in the group with polyhydramnios compared to controls (46% vs. 32%, respectively, p = 0.047) due to a higher rate of emergency CS in the polyhydramnios group (p = 0.041) because of abnormal cardiotocography (7.3% vs. 2.9%; p = 0.018) or labor dystocia (8.2% vs. 2.9%; p = 0.006). No statistically significant difference was found in the Apgar score, in the rate of neonatal hypoxia, or in the incidence of macrosomia between groups. In four cases, additional diagnoses of anomalies were made after birth, with a rate of 3.2%, which is comparable to the general population. Conclusion: Besides an increased risk of CS, patients with mild idiopathic polyhydramnios should be reassured regarding maternal and feto-neonatal outcomes. The management of pregnancies with stable mild idiopathic polyhydramnios should not differ from uncomplicated pregnancies, except for the need for increased labor surveillance.

Ductus venosus Doppler assessment: do the results differ between the sagittal and the transverse approach?

OBJECTIVE: To compare the ductus venosus (DV) pulsatility index for veins (PIV) obtained in a mid-sagittal plane with that obtained in an oblique transverse plane of the fetal abdomen. METHODS: Prospective observational study in singleton uncomplicated pregnancies undergoing an ultrasound examination between 24 and 34 weeks of gestation. Pregnancies complicated by fetal anomalies, fetal growth restriction, or oligohydramnios were excluded. Two consecutive recordings of DV Doppler waveform were obtained in each woman: one in a mid-sagittal plane, and the other in an oblique transverse plane of the fetal abdomen. The peak velocity during ventricular systole (S-wave) and diastole (D-wave), the velocity during atrial contraction (a-wave), and the time-averaged maximum velocity (TAmax) were measured, and the PIV was calculated. The paired t-test was used to compare results obtained with the two approaches. A change of the DV-PIV of 0.10 or more was considered clinically relevant. RESULTS: The DV waveform was successfully obtained in 53 women (mean gestational age 28.5 weeks). The mean DV-PIV was 0.57 (±0.16 SD) in the sagittal plane and 0.54 (±0.16 SD) in the transverse plane. The mean difference (0.03) was statistically significant (p = .04), but not clinically relevant. The sagittal S-, D-, and a-wave velocities and TAmax were significantly higher in the sagittal plane compared to the transverse plane, with an increase of 12, 8, 8, and 10%, respectively (p < .05). CONCLUSIONS: The difference in the DV-PIV obtained in a mid-sagittal plane compared to a transverse plane of the fetal abdomen is small and not clinically significant. The higher DV flow velocities observed in the sagittal plane are likely the result of a better alignment with the vessel obtained using this plane. These findings have implications for clinical practice and for research.

Screening for Common Fetal Trisomies in Twin Pregnancies: First-Trimester Combined, Cell-Free DNA, or Both?

OBJECTIVE: To examine the distribution of risks for fetal trisomies after first-trimester combined screening in twins and to investigate different strategies for clinical implementation of cell-free DNA (cfDNA) testing. METHODS: We retrospectively analyzed all twin pregnancies undergoing first-trimester combined screening over a 10 years' period. The population was stratified according to various risk cut-offs, and we examined different screening strategies for implementation of cfDNA testing in terms of impact on invasive testing rate, cfDNA test failure rate, and economic costs. RESULTS: We included 572 twin pregnancies: 480 (83.92%) dichorionic and 92 (16.08%) monochorionic. Performing a first-line combined screening and offering cfDNA testing to the group with a risk between 1 in 10 and 1 in 1,000, would lead to an invasive testing rate of 2.45%, and cfDNA testing would be performed in 22.20% of the population. This strategy would be cost-neutral compared to universal combined screening alone. CONCLUSIONS: First-trimester combined screening results can be used to stratify twin pregnancies into different risk categories and select those that could be offered cfDNA testing. A contingent screening strategy would substantially decrease the need for invasive testing in twins and it would be cost-neutral compared to combined testing alone.