Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study.

OBJECTIVE: To define the residual risk of morbidity-related outcome in fetuses with nuchal translucency (NT) of 3.5 mm or more after normal genetic testing and mid-trimester anomaly scan. METHODS: A total of 114 fetuses with isolated NT of 3.5 mm or more, normal karyotype, and array-based comparative genomic hybridization (array-CGH) were included and divided in three groups: NT 3.5-4.5 mm, NT 4.5-6 mm, and NT greater than 6 mm. RASopathy testing and ultrasound follow up were performed in all fetuses. We evaluated: (1) incidence of genetic disorders; (2) incidence of structural abnormalities; (3) pregnancy outcome; (4) long-term pediatric outcome before (point 1) and after (point 2) a normal RASopathy testing and mid-trimester anomaly scan. RESULTS: After normal karyotype and array-CGH the residual risk of morbidity-related outcome was 24.64% for NT 3.5-4.5 mm, 25% for NT 4.5-6 mm and 76.47% for NT more than 6 mm. After a normal RASopathy testing and mid-trimester anomaly scan the residual risks decreased to 7.14%, 8.69%, and 33.3% in the three groups, respectively. CONCLUSION: In fetuses with an NT of 3.5 mm or more and both normal karyotype and array-CGH, the rate of morbidity-related outcome depends on NT size. A normal RASopathy testing and mid-trimester ultrasound are reassuring but the residual risk of morbidity-related outcome is increased compared with the general population, particularly if NT is greater than 6 mm.

Selective perfusion of coronary vasculature in preterm sheep: a methodological innovation undermined by unfavourable operation of the foramen ovale.

Antenatal cardiac intervention affords new prospects for hypoplastic left heart syndrome. Its success, however, may come not only from absence of impediments to blood flow but also from a sufficiently developed cardiac wall. Here, we examined the feasibility to perfuse selectively the fetal coronary circulation for treatment with growth promoting agents. Pregnant sheep (94-114 days gestation, term 145 days) were used. An aortic stop-flow procedure was developed for intracoronary access in the nonexposed fetus and human mesenchymal stem cells and their exosomes served as test agents. We found that aortic stop-flow ensures preferential distribution of fluorescent microspheres to the heart. However, intracoronary administration of stem cells or exosomes was detrimental, with fetal demise occurring around surgery or at variable intervals afterwards. Coincidentally, stop-flow caused by itself a marked rise of intraluminal pressure within the occluded aorta along with histological signs of coronary obstruction. We conclude that it is feasible to perfuse selectively the coronary circulation of the preterm fetus, but treatments are not compatible with survival of the animals. The cause for failure is found in the absence of hemodynamic compensation to stop-flow via a left-to-right shunt. This unexpected event is attributed to a largely membranous foramen ovale, characteristic of sheep, that collapses under pressure.

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.

Detailed fetal anatomy assessment in the first trimester at 11, 12 and 13 weeks of gestation.

OBJECTIVE: The aim of the present observational study was to evaluate the feasibility of a morphological scan and determine the detection rate of fetal organs, structures and systems in the first trimester of pregnancy. METHODS: 977 single pregnant women attending our Fetal Medicine Section to undergo first trimester screening for aneuploidies were enrolled and divided into three groups depending on gestational age and crown-rump-length measurement. Scans targeted on a total of 26 fetal anatomical structures were performed by a single operator. RESULTS: The overall detection rate was 96% at 11 weeks and reached 100% at 12 and 13 weeks, with a significant statistical difference between 11 and 12/13 weeks for the majority of the investigated fetal anatomical structures. CONCLUSIONS: Evaluation of most part of the fetal anatomical structures is feasible with high accuracy in the first trimester. Visualization of the majority of the targeted fetal organs improves from 11 to 13 weeks.

Does nuchal translucency thickness in the first trimester predict GDM onset during pregnancy?

BACKGROUND AND AIMS: This study was planned to evaluate whether increased nuchal translucency (NT) thickness in the first trimester of gestation can be related to onset of gestational diabetes mellitus (GDM) during pregnancy. METHODS: From January 2006 to August 2008, a group of 678 singleton pregnancies who had developed GDM has been selected as a study group among a total of 3966 pregnant women who had undergone first trimester screening for aneuploidies at 11-14 weeks of gestation. A group of 420 single pregnant women with physiological pregnancy were enrolled as control group. Both fetal structural and karyotype's anomalies were excluded in the two groups. NT was mesured by a Fetal Medicine Foundation certificated operator; GDM was diagnosed at 24-28 weeks of gestation following Carpenter and Coustan criteria. In the analyses of continuos variables, study and control group were compared by Student's t-test and Anova test. RESULTS: There was no significative difference (p = 0.585) between NT values in the study (mean = 1.56) and control group (mean = 1.54). CONCLUSIONS: NT thickness does not show a significative increase in those women who subsequently develop GDM. Therefore, NT assessment does not prove to be an useful ultrasound parameter for predicting GDM onset during pregnancy.

Prenatal diagnosis of abdominal aortic aneurysm.

We report a rare case of congenital abdominal aortic aneurysm diagnosed early prenatally.