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Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.These findings suggest that in the first trimester, the extent of the spinal defect, the cerebrospinal fluid leakage to a large, but skin-covered, meningocele and fixation of the spinal cord at the lesion are not sufficient to determine downward hindbrain displacement and the development of secondary signs for open spina bifida.Therefore, we suggest a careful evaluation of the fetal cerebral features if a meningocele is detected. The presence of the skin covering the lesion may not be evident in the first trimester, but the absence of intracranial open spina bifida markers may indicate a ‘closed’ spinal defect, which generally associates a good neurological outcome. Also, studies aimed to investigate the accuracy of the intracranial features for open spina bifida detection should consider the possibility of ‘closed’ myelomeningoceles to avoid incorrect correlations.

Background We studied the correlation between prenatal diagnosis and postmortem investigations in pregnancies terminated for renal malformations. Methods Over a 5-year period, 77 cases of termination of pregnancy (TOP) for renal malformations were reviewed. Chromosomal anomalies ( n  = 9) and cases without conventional or virtual autopsy were excluded ( n  = 15). In 53 cases, prenatal ultrasound diagnosis and conventional autopsy findings were compared. In addition, we compared the accuracy of conventional and virtual autopsy findings in 17 cases. Results Full agreement was observed in 60.4 % (32/53) of cases. In 26.4 % (14/53) of the cases, the presence of additional malformations did not alter the final diagnosis. However, in 11.3 % (6/53) the final diagnosis was adjusted because of major additional findings. One case showed a total disagreement. Conventional and virtual autopsy were in full agreement in 52.9 % (9/17). Postmortem magnetic resonance imaging (MRI) description and detection of malformations was less complete and failed to correctly diagnose 5/17 cases (29.4 %). In 17.6 % (3/17) of the cases, postmortem MRI revealed malformations not confirmed by conventional autopsy. Conclusions A high correlation between prenatal ultrasound and postmortem investigations was observed. Conventional autopsy remains the gold standard to reveal additional major and minor malformations, leading to a correct final diagnosis. The added value of virtual necropsy for renal pathology was limited.

Correspondence to Dr Cátia Filipa Martins, paixaocatia@gmail.com Description A healthy 25-year-old primigravida, without a history of teratogenic exposition, presented to our hospital with a first trimester routine ultrasonographic examination showing two major fetal defects: gastrosquisis (figure 1 and video 1) and ectopia cordis (video 2). Pentalogy of Cantrell must be adequately evaluated for appropriate prenatal counselling and postnatal management of individual cases. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach.

This study aims to evaluate the value of prenatal ultrasound diagnosis by comparing it with the results of the fetopathological examination in case of therapeutic interruption of pregnancy for fetal indication. We conducted a retrospective descriptive and analytical study carried out over a three-year period from January 2013 to December 2015. It involved 66 fetuses autopsied after therapeutic interruption of pregnancy for fetal indication. Fetopathological examination confirmed ultrasound results in 63 cases (95.4%). In 18 cases (27.2%) there was a full match between the results of the prenatal diagnosis and those of the autopsy. Nine percent of fetal malformations were detected in the first trimester. The majority of malformations (72%) were detected in the second timester. Neurological malformations were the most frequent (60%), dominated by hydrocephalus and anencephaly. This study shows that, in our clinical context, even if ultrasound diagnosis is often non-exhaustive, its signs indicating the need for interruptions of pregnancy are correct. Fetopathological examination is used, in this case, to detect unknown malformations, making it possible to specify the diagnosis and to implement a strategy for subsequent pregnancies.

Aim To compare the efficacy of different intervals of misoprostol administration (simultaneously vis-à-vis 24 h), after mifepristone, in women undergoing medical termination of pregnancy up to gestation of 49 days. Methods Eighty eligible women with single intrauterine pregnancy of ≤7 weeks of gestation requesting abortion were randomized to receive either 200 mg of mifepristone orally and 400 μg of misoprostol vaginally simultaneously (Group 1) or at 24-h interval (Group 2).Women who had no bleeding after the drugs were offered a second dose of misoprostol 24 h after the first dose. All patients were followed up on day 14. Primary outcome measure was the complete abortion rate. Secondary outcome measures were the induction–abortion interval, adverse effects, especially bleeding, and treatment acceptability rate. Treatment was considered a failure if surgical intervention was needed for any indication. Results Complete abortion was achieved in 38 women [95%; 95% confidence interval (CI) 88%, 100%] in Group 1 and 39 women (97.50%; 95% CI 93%,100%) in Group 2 ( p  = 0.56). A second dose of misoprostol was needed in two patients in Group 1 and in only one patient in Group 2. The induction–abortion interval was 6.50 ± 1.48 h in Group 1 and 5.95 ± 1.81 h in Group 2 ( p  = 0.13). The difference in frequency of adverse effects in the two groups was statistically insignificant ( p  = 0.18). The treatment acceptability rate was 97.50% in Group 1 and 95% in Group 2 ( p  = 0.56). Conclusion Simultaneous administration of mifepristone and 400 μg vaginal misoprostol is an effective alternative to standard regimens for medical abortion up to 49 days of gestation.

Hydrometrocolpos, occurring in approximately 1/6000 newborn girls, can be caused by a stenotic urogenital sinus, a severe cloacal malformation, but also by other conditions such as an imperforate hymen, a midline vaginal septum and vaginal atresia. The prenatal differential diagnosis of this wide spectrum of conditions is not easy and requires a multidisciplinary approach with follow-up scans and MRI to access the severity of the condition. A non-consanguineous couple was referred in the first pregnancy at 30 weeks. The father, 30 years of age, of Kaukasian origin, and the mother of Asian origin, 26 years of age. Ultrasound at 30 weeks revealed ambiguous genitalia (with suspicion of clitoral hypertrophy), a septated structure located behind the bladder compatible with hydrometrocolpos with a uterine malformation (uterus didelphys), a single umbilical artery, mild ascites and growth on the tenth centile. The differential diagnosis included a vaginal atresia, a urogenital sinus and a more severe cloacal malformation. After serial scans, MRI and counselling by an experienced surgeon the preferential diagnosis of a cloacal malformation was made and a late pregnancy termination was performed. Pathological examination revealed: low vaginal atresia with uterus didelphys, anal atresia with rectovaginal fistula and a normal urinary tractus. The differential diagnosis between hydrometrocolpos due to vaginal atresia or due to a more severe cloacal malformation is not straightforward. Care should be taken in decision making and counselling patients with these complex prenatal malformations.

Objectives: To compare the general characteristics and clinical outcome of women who underwent medical termination of pregnancy preceded or not by feticide. Methods: A total of 146 women of diverse gestational ages, who had received a sonographic or genetic diagnosis of fetal abnormality incompatible with postnatal life and chose to legally terminate their pregnancy, had labor induced following feticide (n = 82) or without having feticide performed (n = 64). Results: The number of obstetrical procedures was higher (p = 0.001) in the feticide group. Time of labor induction and complications were similar in both groups. Conclusion: Feticide does not alter the clinical obstetrical course of women undergoing medical termination of pregnancy, and poses no risk to maternal health regardless of gestational age.

Different techniques are used in fetal cardiology, and their accuracy has been demonstrated on several occasions. Color Doppler US has proved to be a reliable and valuable tool in the diagnosis of fetal cardiac abnormalities. Magnetic resonance imaging (MRI) of the fetal heart has, so far, played no role in prenatal diagnostics. We report on a truncus arteriosus communis diagnosed prenatally during a screening ultrasound at 22 weeks of gestation. In addition to real-time ultrasound and color Doppler echocardiography, fetal MRI was performed. Fetal echocardiography arose suspicion of a type I common trunk. Fetal MR showed solely a widened vessel coursing retrocardially and additionally an inhomogeneous fluid distribution of the lung not shown on prenatal US. After termination of pregnancy at 23 weeks of gestation, MR fetography and autopsy were performed, and both found a type II common trunk. MR autopsy of the heart was very reliable in this case and could be an alternative when fetal pathology is not available for different reasons. Postmortem MRI was also able to demonstrate the inhomogeneous fluid distribution in the lung, which was confirmed by autopsy. Fetal and postmortem MR was reliable in the detection of an inhomogeneous fluid distribution in the lung not shown on prenatal US, providing a relevant additional finding to US. Therefore, MRI should be used more often in fetal cardiology, although it still must be further developed.

Placental vascular communications can present a life-threatening problem in monochorionic twins when one fetus has a lethal anomaly. Although selective feticide is the best option for salvaging the normal twin, techniques normally employed (i.e. intracardiac potassium, air embolism) are not prudent given the common circulatory system. Furthermore, in monoamniotic, monochorionic twin gestations it is important to transect the umbilical cord completely to prevent entanglement of the dead fetus around the cord of the normal twin. We present two cases of monochorionic twins in which the cords were transected with a harmonic scalpel under ultrasonic guidance via one trocar. The harmonic scalpel is an instrument which can simultaneously coagulate and cut blood vessels or tissues. The cord ultrasonic transection procedure is a novel, minimally invasive technique which offers several advantages over the methods currently used for selective feticide in discordant monochorionic twin gestations.

Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy and CNVs is routine during the investigation of fetal structural anomalies, but there is little information on the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. We therefore aimed to evaluate the proportion of fetuses with structural abnormalities that had identifiable variants in genes associated with developmental disorders when assessed with whole-exome sequencing (WES). In this prospective cohort study, two groups in Birmingham and London recruited patients from 34 fetal medicine units in England and Scotland. We used whole-exome sequencing (WES) to evaluate the presence of genetic variants in developmental disorder genes (diagnostic genetic variants) in a cohort of fetuses with structural anomalies and samples from their parents, after exclusion of aneuploidy and large CNVs. Women were eligible for inclusion if they were undergoing invasive testing for identified nuchal translucency or structural anomalies in their fetus, as detected by ultrasound after 11 weeks of gestation. The partners of these women also had to consent to participate. Sequencing results were interpreted with a targeted virtual gene panel for developmental disorders that comprised 1628 genes. Genetic results related to fetal structural anomaly phenotypes were then validated and reported postnatally. The primary endpoint, which was assessed in all fetuses, was the detection of diagnostic genetic variants considered to have caused the fetal developmental anomaly. The cohort was recruited between Oct 22, 2014, and June 29, 2017, and clinical data were collected until March 31, 2018. After exclusion of fetuses with aneuploidy and CNVs, 610 fetuses with structural anomalies and 1202 matched parental samples (analysed as 596 fetus-parental trios, including two sets of twins, and 14 fetus-parent dyads) were analysed by WES. After bioinformatic filtering and prioritisation according to allele frequency and effect on protein and inheritance pattern, 321 genetic variants (representing 255 potential diagnoses) were selected as potentially pathogenic genetic variants (diagnostic genetic variants), and these variants were reviewed by a multidisciplinary clinical review panel. A diagnostic genetic variant was identified in 52 (8·5%; 95% CI 6·4–11·0) of 610 fetuses assessed and an additional 24 (3·9%) fetuses had a variant of uncertain significance that had potential clinical usefulness. Detection of diagnostic genetic variants enabled us to distinguish between syndromic and non-syndromic fetal anomalies (eg, congenital heart disease only vs a syndrome with congenital heart disease and learning disability). Diagnostic genetic variants were present in 22 (15·4%) of 143 fetuses with multisystem anomalies (ie, more than one fetal structural anomaly), nine (11·1%) of 81 fetuses with cardiac anomalies, and ten (15·4%) of 65 fetuses with skeletal anomalies; these phenotypes were most commonly associated with diagnostic variants. However, diagnostic genetic variants were least common in fetuses with isolated increased nuchal translucency (≥4·0 mm) in the first trimester (in three [3·2%] of 93 fetuses). WES facilitates genetic diagnosis of fetal structural anomalies, which enables more accurate predictions of fetal prognosis and risk of recurrence in future pregnancies. However, the overall detection of diagnostic genetic variants in a prospectively ascertained cohort with a broad range of fetal structural anomalies is lower than that suggested by previous smaller-scale studies of fewer phenotypes. WES improved the identification of genetic disorders in fetuses with structural abnormalities; however, before clinical implementation, careful consideration should be given to case selection to maximise clinical usefulness. UK Department of Health and Social Care and The Wellcome Trust.