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.

First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans.

OBJECTIVE: to validate the use of the first trimester scan not just as a screening tool for chromosomal anomalies, but also as a method to identify the major anatomic anomalies using 10 standardized scans. METHODS: five years of prospective study analyzing the fetal anatomy of 5924 patients with a singleton pregnancy during the first trimester screening for chromosomopathies. A check list of 10 predetermined scans had been used. The follow up consisted of two more scans in the second and third trimester, according to the local protocol, and a final evaluation of neonatal outcome at birth. RESULTS: in the 5924 examined patients, the percentage of major malformations is 0.74%, most of all discovered in the first trimester (47.7%). The Detection Rate for the malformations related to the nervous system is about 50% and for the malformations of the abdomen, heart and skeleton is slightly lower (43.5%). CONCLUSIONS: first trimester ultrasound using 10 standardized scans is a valid screening method for chromosomopathies and also an effective method to identify many of the major fetal anato - mical anomalies.

Evaluation of endometrial urocortin secretion for prediction of pregnancy after intrauterine insemination.

BACKGROUND: Urocortin is a neuropeptide produced by the human endometrium and has biological effects putatively important for promoting blastocyst implantation. We measured urocortin concentrations in samples of endometrial wash fluid collected from women with unexplained infertility who underwent intrauterine insemination (IUI). METHODS: Patients 28-42 years of age (n = 71) were consecutively enrolled after a complete clinical evaluation. Endometrial wash fluid was retrieved before IUI, at the time of ultrasound evaluation of endometrial thickness. Urocortin concentrations were assayed with a specific ELISA. RESULTS: After IUI, 28 patients (39%) became pregnant. Urocortin concentrations were significantly higher in women who became pregnant than in those who did not (0.38 microg/L vs 0.13 microg/L, P <0.0001). At a cutoff of 0.321 microg/L, urocortin results were positive in 61% [95% confidence interval (CI), 41%-78%] of women who had successful implantation and negative in 98% (95% CI, 88%-99.6%) of those who did not. The pregnancy rate for women with urocortin concentrations >0.32 microg/L was 94%, which differed significantly (P <0.05) from the overall pregnancy rate of 39% in the study population. CONCLUSIONS: Urocortin is measurable in endometrial wash fluid, and its concentrations before IUI are higher in women who subsequently achieve pregnancy. These data suggest that the probability of having a successful pregnancy-producing IUI may be better estimated by measuring urocortin in endometrial wash fluid.