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Abstract Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

Introduction and Objectives: To compare fetal images obtained at the first- and second-trimester ultrasound scan when applying the Cardiovascular System Sonographic Evaluation Algorithm (CASSEAL)., Methods: Using the CASSEAL protocol, nine sequential axial views were acquired in B-mode and color Doppler at the first- and second-trimester ultrasound scans, visualizing the main components of the extended fetal cardiovascular system. Images were compared qualitatively between both trimesters., Results: We obtained comparable images for all the nine axial views described in the CASSEAL protocol, with few differences and limitations., Conclusions: The CASSEAL protocol is reproducible in the first trimester, and could help in the early detection of fetal cardiovascular abnormalities. It represents a promising additional tool in order to increase the CHD detection rate.

Purpose: Aberrant right subclavian artery is an anatomical variation with a prevalence of around 0.5-1.5% of the general population, being more frequently found among people with chromosomopathies, especially, trisomy 21. Despite being an anatomical finding, and thus, constant through the whole pregnancy, its value in the diagnosis of aneuploidies during the first trimester of pregnancy has been little studied. The aim of this study is to evaluate the reliability of the first-trimester ultrasound in the diagnosis of ARSA and its utility in the early diagnosis of aneuploidies., Methods: This was a descriptive, observational, cross-sectional study that included all fetuses with sonographic diagnosis of ARSA between 2011 and 2018., Results: There were 257 cases of ARSA diagnosed. The first-trimester ultrasound showed the following results in the detection of ARSA: sensitivity of 68% (CI 95% 60.8%-74.5%), specificity of 99.9% (CI 95% 99.9%-100%), positive predictive value of 93.7% (CI 95% 88.1%-96.8%), and negative predictive value of 99.6% (CI 95% 99.5%-99.7%). Due to the presence of ARSA, two cases of trisomy 21, that would have been missed in the first trimester, were diagnosed, using ARSA as a soft marker and modifying the risk obtained by the combined screening as part of the genetic sonogram of the first trimester., Conclusions: ARSA visualization during the first-trimester ultrasound is trustworthy and it can improve the detection of trisomy 21 in some cases of aneuploidy missed during the combined screening of the first trimester., (© 2021. The Author(s).)

Objective: Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31 microdeletions (Koolen-de Vries syndrome) using chromosomal microarrays (CMA)., Patients and Methods: We present four foetuses with 17q21.31 microdeletion. All showed CNS anomalies in the third trimester, three had ventriculomegaly, and one hypogenesis of corpus callosum at 31 weeks of pregnancy., Results: Array-SNPs and CGH-array were performed on uncultured amniocytes and peripheral blood revealing a 17q21.31 microdeletion., Conclusions: Prenatal CNS anomalies (mainly ventriculomegaly) at third trimester, in spite of isolate, should be considered a prenatal ultrasound marker of this syndrome. This kind of malformations raise the possibility of an underlying genetic conditions including 17q21.31 microdeletion; thus, CMA should be taken into consideration when offering prenatal genetic counselling., (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Aim: Analyze if the evaluation of aberrant right subclavian artery in the prenatal echography has improved the detection of chromosomal, genetic and/or morphological abnormalities in our population., Methods: Descriptive, observational, cross-sectional study of the cases of aberrant right subclavian artery diagnosed in our Prenatal Diagnosis Unit between January of 2011 and December of 2018., Results: Two hundred and fifty-seven cases of aberrant right subclavian artery were diagnosed and among them, 179 were considered isolated cases and thus were confirmed after birth. The detection of aberrant right subclavian artery did not improve itself neither the diagnosis of trisomy 21 in the second trimester of pregnancy nor other chromosomal or genetic abnormalities, including the not isolated cases. There were two cases of trisomy 21 diagnosed in the second trimester that presented major sonographic disorders and an inadequate examination during the first trimester. When aberrant right subclavian artery was associated with soft markers of aneuploidy in the second trimester, any case was a trisomy 21. Aberrant right subclavian artery seems to be associated with some minor and major heart defects, especially ventriculoseptal defect and aneurismatic ductus, and in some cases, also with clubfeet., Conclusion: When an adequate screening of aneuploidies and a thorough ultrasound have been performed during the first trimester, aberrant right subclavian artery hardly helps to perform other diagnosis in the second trimester., (© 2020 Japan Society of Obstetrics and Gynecology.)

Objective: To compare the effectiveness of a cervical pessary and vaginal progesterone to prevent spontaneous preterm births in pregnant women with cervical lengths 25 mm or less as measured by transvaginal ultrasonography., Methods: This was a multicenter, open-label, randomized, noninferiority trial. Women with singleton pregnancies and a short cervix (25 mm or less) measured transvaginally at the second-trimester ultrasonogram were invited to participate. They were computer-randomized (one to one) into cervical pessary placement or treatment with vaginal progesterone (200 mg/24 hours). The primary outcome was spontaneous preterm delivery before 34 weeks of gestation. The noninferiority margin was set at 4% with a 0.025 one-sided α level and a statistical power of 80%. That is, if the 95% CI upper bound exceeded 4%, the pessary could not be deemed noninferior. A sample size of 254 women was required to show noninferiority of the pessary to progesterone., Results: The trial was conducted from August 2012 to April 2016 with the participation of 27 Spanish hospitals. A total of 254 patients were enrolled and 246 included in the intention-to-treat analysis. Demographic and baseline characteristics were similar across groups. The rate of spontaneous delivery before 34 weeks of gestation was 14% (n=18/127) in the pessary group and 14% (n=17/119) in the progesterone group with a risk difference of -0.11% (95% CI -8.85% to 8.62%; P=.99), that is, noninferiority was not shown for the pessary. The incidence of increased vaginal discharge (87% vs 71%, P=.002) and discomfort (27% vs 3%, P<.001) was significantly higher in the pessary group., Conclusion: A cervical pessary was not noninferior to vaginal progesterone for preventing spontaneous birth before 34 weeks of gestation in pregnant women with short cervixes., Clinical Trial Registration: EU Clinical Trials Register, 2012-000241-13; ClinicalTrials.gov, NCT01643980.

Aim: Detection of cell-free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell-free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described., Methods: Two cohorts of patients with positive combined screening were compared: the first one (years 2012-2013, 5747 patients) from a period of time in which the protocol valid until March 2016 - that included the use of invasive procedures - was applied; and the second one in which the current protocol - that included NIPT versus invasive procedures - was applied (first 7 months after protocol implementation, 898 patients)., Results: Comparison of both periods resulted in a 60.5% reduction of invasive procedures (P < 0,001) preserving the same chromosomopathy detection rate. The ratio of positive invasive procedures-indicated invasive procedures was improved by 15% in the first period to 50% in the second period (P = 0.01)., Conclusion: NIPT introduction has caused a significant reduction of 60.5% of IP in high chromosomopathy risk patients after combined screening without modifying detection rate., (© 2018 Japan Society of Obstetrics and Gynecology.)

Objective: Clarify the prognosis of the prenatal ultrasound diagnosis of umbilical cord cysts at any gestation trimester and to assess the ultrasound findings and chromosomal alterations associated to this entity., Materials and Methods: Between 2003 and 2015 a multicenter study was carried out, collecting, in five centers in Spain, the associated findings and perinatal outcomes of 27 cases of umbilical cord cysts, regardless of gestational age of diagnosis. A bibliographic review was conducted to identify previous studies in order to compare them with our data., Results: In our sample, the prognosis of this finding and the neonatal outcome, when isolated, is favorable, regardless of gestational age at diagnosis, multiple or unique presentation or vanishing or persistent cysts., Conclusions: It is important to properly assess the umbilical cord cyst and when is diagnosed, it is recommended to conduct a meticulous ultrasound examination searching for other associated malformations. In our study the prognosis of this finding seems to be favorable when isolated. Also, there is no relation between prognosis and gestation weeks at diagnosis. On the other hand, when we find this entity with associated anomalies, it is recommended to assess the need to carry out a karyotype., (Copyright © 2017. Published by Elsevier B.V.)

The Publisher regrets that this article is an accidental duplication of an article that has already been published, DOI of original article: http://dx.doi.org/10.1016/j.ejogrb.2016.07.485. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Objective: The aim of this study was to assess intra and interobserver reproducibility of placental volume and vascularization during the first trimester of pregnancy studied by three dimensional ultrasonography and angio power Doppler., Study Design: This is a prospective study in 69 singleton pregnancies. Once the bi-dimensional protocol study was carried out, we performed a 3D-US (three-dimensional ultrasonography) of the placenta by abdominal ultrasonography. The Virtual Organ Computer-Aided Analysis program was used to evaluate the placental volume (PV), the placental quotient (PQ: placental volume/crown-rump length) and the vascular indices (vascularization index VI, flow index FI and vascularization-flow index VFI). The intraobserver and interobserver variability were respectively expressed as an intraclass correlation coefficient (Intra-CC) and interclass correlation coefficient (inter-CC)., Results: Intraobserver correlation for PV was excellent with an Intra-CC of 0.97 while an Inter-CC of 0.71 demonstrated less agreement between observers. In the same way, PQ showed better intraobserver than interobserver correlation, with an Intra-CC of 0.97 and an inter-CC of 0.67. The analyzed vascular indices had both excellent intraobserver and interobserver correlation coefficients, with values of 0.98 and 0.96 for VI, 0.93 and 0.89 for FI and 0.97 and 0.95 for VFI, respectively., Conclusion: Our study demonstrate an excellent intra and inter-observer reproducibility for vascular indices and a good reproducibility of the evaluated Doppler indices with intra-CC higher than 0.90. PV and PQ were also reproducible most of all within the same observer. As a conclusion, first trimester tridimensional sonography is a reproducible tool for the systematic study of placental vascularization., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Background: Premature birth is considered one of the main problems in modern Obstetrics. It causes more than 50 % of neonatal mortality; it is responsible for a large proportion of infant morbidity and incurs very high economic costs. Cervical length, which can be accurately measured by ultrasound, has an inverse relationship with the risk of preterm birth. As a result, having an effective intervention for asymptomatic patients with short cervix could reduce the prematurity. Although recently published data demonstrates the effectiveness of vaginal progesterone and cervical pessary, these treatments have never been compared to one another., Methods/design: The PESAPRO study is a noncommercial, multicenter, open-label, randomized clinical trial (RCT) in pregnant women with a short cervix as identified by transvaginal ultrasonography at 19 to 22 weeks of gestation. Patients are randomized (1:1) to either daily vaginal progesterone or cervical pessary until the 37th week of gestation or delivery; whichever comes first. During the trial, women visit every 4 weeks for routine questions and tests. The primary outcome is the proportion of spontaneous preterm deliveries before 34 weeks of gestation. A sample size of 254 pregnant women will be included at 29 participating hospitals in order to demonstrate noninferiority of placing a pessary versus vaginal progesterone. The first patient was randomized in August 2012, and recruitment of study subjects will continue until the end of December 2015., Discussion: This trial assesses the comparative efficacy and safety between two accepted treatments, cervical pessary versus vaginal progesterone, and it will provide evidence in order to establish clinical recommendations., Trial Registration: EU Clinical Trials Register EudraCT2012-000241-13 (Date of registration: 16 January 2012); ClinicalTrials.gov Identifier NCT01643980 (Date of registration: 12 June 2012).

Background: Right aortic arch is the most common abnormality of the aortic arch, excluding aberrant right subclavian artery. Its importance lies in its association with genetic syndromes, another important congenital heart defects, and that may cause clinical symptons from vascular rings., Objective: Was to describe the prenatal clinical presentation, the correlation with postnatal findings and postnatal development of the fetus., Methods: Observational retrospective analysis of 18 cases of right aortic arch diagnosed prenatally between the years 2005-2011., Results: 5 pregnancies were interrupted because of ultrasound findings associated with poor prognosis. In 13 cases were term infants, with a good correlation between prenatal and postnatal findings, and the prognosis was excellent in cases in which the prenatal diagnosis of right aortic arch was isolated., Conclusions: In our experience, right aortic arch is a rare condition, but it can be associated with important congenital heart defects (heart disease or vascular rings) and/or other morphological anomalies in the fetus, in which case it should be ruled out chromosomal or genetic syndrome. If prenatally is considered an isolated finding, after careful ultrasound assessment by obstetricians and pediatric cardiologists, it is likely that evolution will be favorable postnatally.

Introduction: The value of a single umbilical artery (SUA) in first trimester ultrasound is not well established. The aim of our study was to determinate the relevance of diagnosis of single umbilical artery in first trimester ultrasound as an early marker suggesting the presence of malformations or associated chromosomopathies., Material and Methods: Retrospective study of clinical cases of SUA diagnosed at the University Hospital Puerta de Hierro in Madrid (Spain) during the first trimester ultrasound between September 2008 and September 2012., Results: Prevalence of SUA was 1.1% in single pregnancies and 3.3% in twin pregnancies. Sensitivity, specificity, false positive rate, and false negative rate for the finding in the first trimester were 84.2, 99.8, 0.2, and 15.7%, respectively. 17.6% of cases had associated malformations. With an ultrasound in the 16th week most of the cases with significant fetal malformation were diagnosed., Discussion: SUA is a useful marker in the first trimester for fetal malformation pathology, as it will allow detecting a large number of cases with malformations before 20 weeks of gestation.

Objective: To study the perinatal results in our population, following the prenatal ultrasound diagnosis of a single umbilical artery (SUA), as this alteration is associated with fetal malformations, chromosomal abnormality, and poor perinatal results., Materials and Methods: A retrospective review of all obstetric ultrasounds carried out between October 2000 and December 2003 in our service, obtaining the postnatal results of the fetuses diagnosed with an SUA., Results: From a total of 5,987 pregnant patients examined by ultrasound scan at 20th week, an SUA was found in 40 cases, representing an incidence of 0.7%. Of these, 84.6% were normal pregnancies at birth and 15.4% presented other malformations and/or chromosomal abnormalities. No aneuploidy was found in pregnancies where there were no other associated findings in the ultrasound scan at 20 weeks. All cases with serious congenital malformations accompanying the SUA were diagnosed prenatally. There was a 5% of perinatal mortality rate among our fetuses with SUA, which represents a mortality rate 10 times greater than the overall rate among our patients., Conclusions: The ultrasound discovery of an SUA implies the meticulous search for other associated malformations, and in the absence of these, the risk of a chromosomal abnormality is very low, unless it is a high-risk patient. However, the growth and wellbeing of the fetus must be carefully monitored in the last 3 months, although the ultrasound scan does not show any other associated alterations.