What can be hidden behind negative NIPT? Trisomy 18 mosaicism and complex fetal anomalies – case report

Smooth endoplasmic reticulum aggregations in all retrieved oocytes causing recurrent multiple anomalies: case report

Laparoscopic Hysterectomy for Failed Labor Induction Abortion Is Neither Frugal nor Innovative.

Aims: An epignathus is a rare form of congenital teratoma, originating from the base of the skull,most commonly the hard palate,or mandible.It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions.It is usually not associated with chromosomal aberrations.We present a case of prenatal diagnosed epignathus associated with a gonosomal pentasomy 49,XXXXY. Case: A I-Gravida,0-Para was referred to our unit with a suspected gastroschisis at 26+6 weeks gestation. Performed detailed ultasound scan revealed a large mixed echogenic mass seen in continuation with the mouth in the midline. Due to the appearance an epignathus was suspected.No other fetal anomalies were detected. Karyotyping showed a 49,XXXXY karyotype of the fetus.The couple decided to carry the pregnancy on after detailed counselling about the result. A caesarean section was necessary and performed at 29+0 weeks gestation due to a pathological Doppler and CTG.Because of the enormous epignathus intubation of the newborn was not possible. A tracheostomy was performed for ventilation and oxygenation, which failed and the newborn died 30min. after birth. Conclusion: Prenatal diagnosis by ultrasound has improved perinatal management.This should include as well in this case the assessment of the tumor size and spread in order to establish an accurate prognosis as well as to anticipate likely problems which have to be encountered during pregnancy or at the time of delivery.To our knowledge this is the first reported case of an prenatal diagnosed epignathus with a pentasomy 49,XXXXY.

Background: Epignathus is a rare form of congenital teratoma, originating from the base of the skull, most commonly the hard palate, or mandible. It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions. It is usually not associated with chromosomal aberrations. We present a case of prenatally diagnosed epignathus associated with a gonosomal pentasomy 49,XXXXY. Case: A 34-year-old gravida 1, para 0 was referred to our unit with a sonographically suspected gastroschisis at 26+6 weeks’ gestation. A detailed ultrasound scan revealed a large mixed echogenic mass seen in continuation with the mouth in the midline. Based on the appearance, an epignathus was suspected. No other fetal anomalies were detected. Karyotyping showed a 49,XXXXY karyotype of the fetus. The couple decided to continue the pregnancy after detailed counseling about results and prognosis. A cesarean section was necessary and performed at 29+0 weeks’ gestation due to a pathological Doppler and cardiotocogram. Because of the enormous epignathus intubation of the newborn was not possible. A tracheostomy was performed for ventilation and oxygenation, which failed and the newborn died 30 min after birth. Conclusion: Prenatal diagnosis by ultrasound has improved perinatal management. This should include assessment of the tumor size and spread in order to establish an accurate prognosis and to anticipate likely problems which are to be encountered during pregnancy or at the time of delivery. To our knowledge, this is the first reported case of a prenatally diagnosed epignathus with a gonosomal pentasomy 49,XXXXY.

Case reports and case series have linked umbilical vein varices (UVVs) with adverse pregnancy outcomes. Newer case reports and series suggest better perinatal outcomes in cases with an isolated UVV. The purpose of this literature review is to determine if there is commonality in management, outcomes, and association in pregnancy with UVV and fetal aneuploidy, growth restriction, demise, thrombosis, and turbulent flow. Secondly, we will review the diagnosis, pathophysiology, differential diagnosis, and incidence of UVV. A literature search was undertaken using the search engines PubMed, CINAHL, and Embase. The search terms used were "umbilical vein" AND "varix" OR "umbilical varix" AND "fetal death" OR "fetal demise" AND "guideline" AND "outcome" OR "abnormality" OR "abnormalities". There were 169 abstracts identified. We identified 392 cases of UVV from our literature review. There is a higher risk of fetal anomalies, fetal aneuploidy, and intrauterine fetal demise in pregnancies with UVV. The risk for fetal growth restriction is in the higher range of normal. Turbulence in and thrombosis of the UVV are concerning developments that influence fetal surveillance. Pregnancies with a UVV are more likely to have fetal anomalies, aneuploidy, and IUFD. We propose an antenatal assessment and management plan and recommendations for the timing of delivery. Our aim is to analyze existing literature to identify and combine case reports and case series of umbilical vein varix and analyze fetal and perinatal outcomes.

BACKGROUND Fetal triploidy is a rare, lethal disorder characterized by an extra set of haploid chromosomes resulting in 69 chromosomes (69, XXX; 69, XXY; or 69, XYY). Fetal anomalies and occasionally maternal complications such as hypertension result in a high fetal loss rate during gestation. It is estimated to be present in 1: 250 000 pregnancies at 20 weeks, and very few survive to term. Diagnosis is suspected by antepartum ultrasound and confirmed by invasive testing of fetal cells by karyotype. Management includes pregnancy termination or pregnancy continuation based on the patient's choice. Whether a cesarean delivery should be performed for a nonmaternal indication in a triploid pregnancy is controversial. CASE REPORT A 17-year-old primagravida presented at 33 weeks post-last menstrual period with several weeks of lower abdominal pain and nausea. She had received prenatal care at an outside facility and had a second-trimester ultrasound. She declined amniocentesis for definitive fetal karyotyping. On arrival at our hospital, an ultrasound revealed multiple fetal anatomic anomalies. She developed nonreassuring fetal surveillance and underwent cesarean delivery at 37 weeks. The infant died on day 20 of life. CONCLUSIONS Triploidy is a condition that results in ultrasound-detectable anomalies early in the first half of pregnancy. Noninvasive prenatal screens are unreliable for definitive triploid detection. Confirmation of a fetal chromosomal disorder requires an invasive test such as an amniocentesis. Knowing that the fetus has a lethal disorder allows 2 important options: first, a pregnancy termination; second, declining a cesarean delivery. This case illustrates that refusing the amniocentesis changes the entire course of the pregnancy management.

An obstructed labour due to fetal congenital anomaly - Case report

Objective To report on a unique medical situation after self-obtained use of misoprostol in a country where abortion is illegal.Case A 29-year-old woman was seen at 12 weeks' gestation with a history of use of 10,800 μg of misoprostol orally and vaginally over the preceding six weeks. She had experienced mild-to-moderate pelvic pain but no vaginal bleeding. Because the pregnancy was intrauterine and viable, surgical termination could not be carried out. The risks of fetal congenital anomalies due to in utero exposure to misoprostol were discussed with the patient. A detailed ultrasonography at 16 weeks' gestation revealed no anomaly. Vaginal delivery at 38 weeks' gestation resulted in the birth of a baby without discernible congenital anomalies.Conclusions In countries where abortion is illegal, women should be informed about the risks associated with unsupervised self-induced abortion with misoprostol.

PurposeTurner syndrome (TS), also known as congenital ovarian hypoplasia syndrome, is a sex chromosome abnormality caused by a complete/partial absence of the second sex chromosome with complete X chromosome. The most common findings by prenatal ultrasonography of TS include thickened nuchal translucency, cystic hygroma, cardiovascular system abnormalities, urinary system diseases, and growth retardation.Case PresentationWe present a unique case of TS with the ultrasonographic features of dorsal skin edema on both feet and a progressive slow growth of humerus length (HL) and femur length (FL) at the second trimester of spontaneous pregnancy. We performed an extensive review of prenatal ultrasound features of TS cases from MEDLINE (PUBMED) published in English between 2000 and 2024 to prove this case’s uniqueness. A 29-year-old pregnant woman with her second pregnancy after a previous missed abortion presented as the prenatal ultrasound exam for fetal structural anomalies at 24+3 weeks gestation revealed an edema of the dorsal skin on both feet and a short long bone of both femur and humerus for gestational age. Nuchal translucency (NT) measurement at week 13+6 was 1.3mm, and fetal echocardiography at week 24+2 showed normal. There were no markedly abnormal findings in the results of non-invasive prenatal test (NIPT) cell-free fetal DNA (cff-DNA) at 14+6 weeks. Then, amniocentesis was performed and the results confirmed Turner syndrome with a 45,X karyotype. The final review included 11 with a total number of 884 cases identified, among which central lymphedema such as increased nuchal translucency or cystic hygroma is the typical finding with TS by ultrasonographic examination. Peripheral lymphedema resulting in fetal substantial swelling in feet was reported in 3 cases. Fetal feet edema accompanied with growth retardation are extremely rare.ConclusionPeripheral lymphedema such as feet edema accompanied with long bone-involved growth retardation is rare but recognized features by prenatal ultrasonography, which should be considered as an index of chromosomal abnormalities in fetus with TS.

Thanatophoric dwarfism is a rare osteochondrodysplasic classified into two types I and II. It is due to a mutation in the FGFR3 (fibroblast growth factor receptor 3) gene located on the short arm of chromosome 4. This morphological anomaly is always lethal, and molecular biology is used to diagnose it with certainty. We report the case of a 25-year-old nulliparous woman with no particular history, whose ultrasound scan at 38 weeks' amenorrhea, performed as part of standard prenatal surveillance, led to the diagnosis of NT type I in the face of highly suggestive fetal dysmorphic images. These included macrocephaly and extremely shortened limbs associated with curved femurs. A 33 cm long, 2600 g dwarf neonate was extracted from the pelvis and admitted to the neonatal intensive care unit for severe respiratory distress at birth, with death at 7 days. Background: Thanatophoric dwarfism is a rare osteochondrodysplasic classified into two types I and II. It is due to a mutation in the FGFR3 (fibroblast growth factor receptor 3) gene located on the short arm of chromosome 4. Methods: We report the case of a 25-year-old nulliparous woman with no particular history, whose ultrasound scan at 38 weeks' amenorrhea. Results: A 33 cm long, 2600 g dwarf neonate was extracted from the pelvis and admitted to the neonatal intensive care unit for severe respiratory distress at birth, with death at 7 days. Conclusions: NT is a major fetal morphological anomaly for which antenatal diagnosis is imperative. In the absence of molecular biology, obstetrical ultrasonography, sometimes coupled with radiography of the uterine contents, enables NT to be diagnosed and other types of micromelic dwarfism to be ruled out. Keywords: thanatophoric dwarfism , morphological anomaly ,surgery, case report.

Double aortic arch represents a congenital vascular malformation that is characterized by the development of a complete vascular ring around the esophagus and trachea due to an anomaly in the development of branchial arteries. We present the case of a 31-year-old gravida that was referred for fetal ultrasound anomalies screening at 22 weeks and six days of gestation. Routine ultrasound scanning of the fetus revealed a structural aortic arch anomaly consistent with a double aortic arch, with no other cardiac and diextracardiac congenital structural malformations. Knowledge of embryology and imaging spectrum of aortic arch anomalies that are able to form vascular rings around the trachea and esophagus are essential for an accurate antenatal diagnosis and therefore, for a correct clinical management.

BackgroundHeterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia.Case presentationA G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb’s rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG.ConclusionSequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.

Plain Language SummaryAcute fatty liver of pregnancy (AFLP) is a rare but potentially life-threatening obstetric condition characterized by acute maternal hepatic failure. Intrapartum fetal surveillance is routinely performed using cardiotocography (CTG) to evaluate fetal heart rate patterns and assess oxygenation status. Typically, fetal hypoxia during labor is associated with uterine tachysystole or increased contractile stress. In this case report, we describe a pregnant woman with AFLP whose fetus exhibited signs of distress on CTG despite weak uterine contractions and a non-progressive labor. This presentation suggests alternative pathophysiological mechanisms underlying fetal hypoxia. First, AFLP is associated with maternal metabolic acidosis, which impairs oxygen transfer across the placenta by altering the diffusion gradient. Second, the condition may lead to maternal hypovolemia, resulting in reduced uteroplacental perfusion. Finally, placental lipid accumulation and microthrombotic processes further compromise blood flow. The combination of these factors can rapidly lead to fetal hypoxia even in the absence of significant uterine activity. In the reported case, prompt recognition of abnormal CTG findings led to expedited delivery by emergency cesarean section, with favorable maternal and neonatal outcomes. Understanding these mechanisms is essential for accurate interpretation of CTG findings and timely clinical intervention in similar high-risk scenarios.

21st World Congress on Ultrasound in Obstetrics and Gynecology, 18-22 September 2011, Los Angeles, USA: presentations and awards

Prenatal ultrasound is widely used to screen for structural anomalies before birth. While this is traditionally done in the second trimester, there is an increasing use of first-trimester ultrasound for early detection of lethal and certain severe structural anomalies. To evaluate the diagnostic accuracy of ultrasound in detecting fetal structural anomalies before 14 and 24 weeks' gestation in low-risk and unselected pregnant women and to compare the current two main prenatal screening approaches: a single second-trimester scan (single-stage screening) and a first- and second-trimester scan combined (two-stage screening) in terms of anomaly detection before 24 weeks' gestation. We searched MEDLINE, EMBASE, Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Arts & Humanities Citation Index and Emerging Sources Citation Index (Web of Science) from 1 January 1997 to 22 July 2022. We limited our search to studies published after 1997 and excluded animal studies, reviews and case reports. No further restrictions were applied. We also screened reference lists and citing articles of each of the included studies. Studies were eligible if they included low-risk or unselected pregnant women undergoing a first- and/or second-trimester fetal anomaly scan, conducted at 11 to 14 or 18 to 24 weeks' gestation, respectively. The reference standard was detection of anomalies at birth or postmortem. Two review authors independently undertook study selection, quality assessment (QUADAS-2), data extraction and evaluation of the certainty of evidence (GRADE approach). We used univariate random-effects logistic regression models for the meta-analysis of sensitivity and specificity. Eighty-seven studies covering 7,057,859 fetuses (including 25,202 with structural anomalies) were included. No study was deemed low risk across all QUADAS-2 domains. Main methodological concerns included risk of bias in the reference standard domain and risk of partial verification. Applicability concerns were common in studies evaluating first-trimester scans and two-stage screening in terms of patient selection due to frequent recruitment from single tertiary centres without exclusion of referrals. We reported ultrasound accuracy for fetal structural anomalies overall, by severity, affected organ system and for 46 specific anomalies. Detection rates varied widely across categories, with the highest estimates of sensitivity for thoracic and abdominal wall anomalies and the lowest for gastrointestinal anomalies across all tests. The summary sensitivity of a first-trimester scan was 37.5% for detection of structural anomalies overall (95% confidence interval (CI) 31.1 to 44.3; low-certainty evidence) and 91.3% for lethal anomalies (95% CI 83.9 to 95.5; moderate-certainty evidence), with an overall specificity of 99.9% (95% CI 99.9 to 100; low-certainty evidence). Two-stage screening had a combined sensitivity of 83.8% (95% CI 74.7 to 90.1; low-certainty evidence), while single-stage screening had a sensitivity of 50.5% (95% CI 38.5 to 62.4; very low-certainty evidence). The specificity of two-stage screening was 99.9% (95% CI 99.7 to 100; low-certainty evidence) and for single-stage screening, it was 99.8% (95% CI 99.2 to 100; moderate-certainty evidence). Indirect comparisons suggested superiority of two-stage screening across all analyses regarding sensitivity, with no significant difference in specificity. However, the certainty of the evidence is very low due to the absence of direct comparisons. A first-trimester scan has the potential to detect lethal and certain severe anomalies with high accuracy before 14 weeks' gestation, despite its limited overall sensitivity. Conversely, two-stage screening shows high accuracy in detecting most fetal structural anomalies before 24 weeks' gestation with high sensitivity and specificity. In a hypothetical cohort of 100,000 fetuses, the first-trimester scan is expected to correctly identify 113 out of 124 fetuses with lethal anomalies (91.3%) and 665 out of 1776 fetuses with any anomaly (37.5%). However, 79 false-positive diagnoses are anticipated among 98,224 fetuses (0.08%). Two-stage screening is expected to correctly identify 1448 out of 1776 cases of structural anomalies overall (83.8%), with 118 false positives (0.1%). In contrast, single-stage screening is expected to correctly identify 896 out of 1776 cases before 24 weeks' gestation (50.5%), with 205 false-positive diagnoses (0.2%). This represents a difference of 592 fewer correct identifications and 88 more false positives compared to two-stage screening. However, it is crucial to acknowledge the uncertainty surrounding the additional benefits of two-stage versus single-stage screening, as there are no studies directly comparing them. Moreover, the evidence supporting the accuracy of first-trimester ultrasound and two-stage screening approaches primarily originates from studies conducted in single tertiary care facilities, which restricts the generalisability of the results of this meta-analysis to the broader population.