The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles.

OBJECTIVES: To evaluate the clinical significance of nuchal translucency (NT) between the 95th-99th percentile in terms of typical and atypical chromosomal abnormalities (ACAs), associated fetal congenital defects and postnatal outcome. METHODS: A retrospective cohort study of fetuses with NT between the 95th-99th percentile. Data regarding the rate of associated fetal defects, genetic abnormalities and postnatal outcome were collected. RESULTS: A total of 306 cases of fetuses with an NT between the 95th-99th percentiles were included. The overall rate of genetic abnormalities was 12.1% (37/306). Chromosomal abnormalities were found in 10.1% (31/306) of cases and 2% were ACA (6/306). Within this group, two were pathogenic Copy Number Variants (CNVs) and four were single gene disorders. The overall rate of fetal congenital defects was 13.7% (42/306). All ACAs were found in fetuses with congenital defects. Postnatally, a new diagnosis of a single gene disorder was made in 0.85% of cases (2/236). CONCLUSIONS: The presence of an NT between the 95th-99th percentiles carries a 10-fold increased risk of fetal defects, representing an indication for referral for a detailed fetal anatomy evaluation. The risk of ACA is mainly related to the presence of fetal defects, irrespective of the combined test risk.

Is antiarrhythmic therapy safe in twin pregnancies?

AIM: The optimal treatment for foetal supraventricular tachycardia (SVT) in twin pregnancies is unclear because of the possible impact on the second twin. This review compared a foetus we treated with antiarrhythmic drugs with the previous case studies. METHODS: Our case was a dichorionic diamniotic twin pregnancy, where one twin developed foetal hydrops secondary to SVT at 22 weeks of gestation. We searched PubMed to look for previous cases of SVT in twin pregnancies. RESULTS: Treatment with transplacental antiarrhythmic therapy from 22 to 36 weeks of gestation successfully resolved the SVT in our affected twin without any impact on the healthy twin or mother. We only found seven similar cases of SVT in twin pregnancies from 1999 to 2017. Although there was no consensus on the treatment that should be provided, none of the studies reported side effects in the twins or the mothers. CONCLUSION: Despite a lack of data on SVT in twin pregnancies, our case, and the previous cases we identified, allowed us to conclude that transplacental antiarrhythmic treatment can successfully achieve cardioversion in the affected twin. It can do this without side effects for the healthy foetus or the mother, even if the treatment lasts for a long period of time.

Umbilical Vein Blood Flow in Uncomplicated Pregnancies: Systematic Review of Available Reference Charts and Comparison with a New Cohort.

The objectives of the study were (1) to perform a systematic review of the available umbilical vein blood flow volume (UV-Q) reference ranges in uncomplicated pregnancies; and (2) to compare the findings of the systematic review with UV-Q values obtained from a local cohort. Available literature in the English language on this topic was identified following the PRISMA guidelines. Selected original articles were further grouped based on the UV sampling sites and the formulae used to compute UV-Q. The 50th percentiles, the means, or the best-fitting curves were derived from the formulae or the reported tables presented by authors. A prospective observational study of uncomplicated singleton pregnancies from 20+0 to 40+6 weeks of gestation was conducted to compare UV-Q with the results of this systematic review. Fifteen sets of data (fourteen sets belonging to manuscripts identified by the research strategy and one obtained from our cohort) were compared. Overall, there was a substantial heterogeneity among the reported UV-Q central values, although when using the same sampling methodology and formulae, the values overlap. Our data suggest that when adhering to the same methodology, the UV-Q assessment is accurate and reproducible, thus encouraging further investigation on the possible clinical applications of this measurement in clinical practice.

Finasteride and fertility: case report and review of the literature.

Although millions of men have taken or are taking finasteride, there are no documented cases of successful pregnancy in the literature after discontinuation of the drug. Early studies did not show significant influence of finasteride on semen parameters, whereas some recent observations have suggested that in subfertile patients, the effects of the drug might be amplified. Therefore, counseling is particularly difficult for men taking finasteride and planning pregnancy. We report the case of a couple whose male partner had used finasteride for approximately 10 years and who presented for primary infertility. The first semen analysis, carried out 3 months after finasteride cessation, revealed severe oligospermia. One month later, sperm concentration increased, and the following month, the couple spontaneously conceived. A healthy baby was delivered at full term. To the best of our knowledge, this is the first case of successful full-term pregnancy and live birth after long-term use of finasteride, which suggests that treatment with finasteride, even after several years, does not prevent normal conception. However, caution should be advised with the use of finasteride in male partners of couples who are attempting to become pregnant.

The association of first trimester uterine arteries Doppler velocimetry with different clinical phenotypes of hypertensive disorders of pregnancy: a longitudinal study.

Introduction: Current classification of hypertensive disorders of pregnancy (HDP) is mostly based on temporal classification differentiating HDP according to early and late onset of the disease. However, epidemiological and clinical data suggest that there are two different clinical phenotypes of HDP that coexist at any gestational age: HDP associated to intrauterine growth restriction (HDP-IUGR) and HDP associated to appropriate for gestational age fetal growth (HDP-AGAf). The aim of the study was to evaluate the association of first trimester uterine arteries (UtA) by Doppler velocimetry, and maternal risk factors with HDP according to two different classifications: one based on gestational age at delivery (early- and late-HDP), and one based on longitudinal ultrasound evaluation of fetal growth (HDP-IUGR and HDP-AGAf), independently of the gestational age. Methods: Maternal characteristics and mean pulsatility index (PI) of UtA were collected at 11-13 gestational weeks. A longitudinal ultrasound follow-up of fetal growth in each trimester and clinical outcome were obtained in 4290 singleton pregnancies. Results: UtA-PI was significantly higher in women who developed HDP-IUGR (n = 22) and the odds ratio (OR) to develop HDP-IUGR from 25 to 39 weeks was 8.6 (p < .0001). HDP-AGAf (n = 112) was significantly associated with a higher BMI, multiparity, and maternal age, but not with UtA-PI (OR 1.3; p = .2). In women with an abnormal UtA-PI, the odds of developing early (n = 15) and late-HDP (n = 119) were 3.0 (p = .03) and 1.7 (p = .002), respectively. The AUCs for HDP-IUGR and early-HDP were 0.84 and 0.71, respectively. Discussion: UtA Doppler velocimetry in the first trimester was strongly associated with HDP-IUGR all along gestation, as a proxy of placental insufficiency, and showed no association with HDP-AGAf. Our findings suggest an efficacy of first trimester UtA Doppler velocimetry to identify HDP-IUGR independently of the gestational age, and a limited value for HDP not associated with intrauterine growth restriction (IUGR).