Prenatal Sonographic Findings Research Articles

Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis - clinical report of 3 new cases and review of the literature.

Our objective was to present the experience on prenatal diagnosis of 1p36 terminal deletion, and further delineated the fetal presentation of the syndrome. This was a retrospective analysis of three new prenatal cases with pure 1p36 terminal deletion detected by chromosome microarray analysis (CMA) at a single Chinese medical center. We also reviewed 11 published prenatal cases with similar deletion sizes. Clinical data of all cases including indications for invasive testing, sonographic findings, maternal factors, and pregnancy outcomes were reviewed and analyzed. Three new cases with pure 1p36 terminal deletion were prenatal diagnosed by CMA, the sizes of the deletion were 1.3 Mb, 5.0 Mb, and 4.9 Mb respectively. All cases were detected because of abnormal ultrasound findings, including central nervous system (CNS) abnormalities, congenital heart disease (CHD) and fetal growth restriction. Two pregnancies were terminated, and one was live-born but died three months after birth. The 1p36 terminal deletion results in many clinical manifestations, but the specificity of clinical features are not high. Prenatal sonographic findings such as CNS, CHD may act as suggestive signs of 1p36 deletion or other microdeletion/duplication syndromes.

Bladder prolapse through a patent urachus presenting as an umbilical mass in the newborn: characteristic prenatal sonographic findings and the diagnostic benefit of postnatal cystography.

Bladder prolapse through a patent urachus is rare. We present a newborn with an unusual exophytic, erythematous umbilical mass. Voiding cystography readily demonstrated continuity of the bladder dome with the umbilical mass, confirming bladder prolapse through a patent urachus. The diagnosis of bladder prolapse was rapidly made in a second newborn with similar imaging and clinical findings and confirmed by cystography. We discuss the embryology of this condition including the association with a vesico-allantoic cyst in utero. Pre- and postnatal images are presented. The use of cystography in diagnosis is emphasized.

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

Ganglionic eminence abnormalities on fetal MR imaging are associated with cerebral malformations. Their presumed genetic basis and associated postnatal outcomes remain largely unknown. We aimed to elucidate these through a multicenter study. Between January 2010 and June 2020, seven hospitals in 2 countries performing fetal MR imaging examinations identified fetal MR imaging studies demonstrating ganglionic eminence enlargement, cavitation, or both. Cases with no genetic diagnosis, no whole exome sequencing, or no outcome of a liveborn child were excluded. Head size was classified as large (fronto-occipital diameter > 95th centile), small (fronto-occipital diameter <5th centile), or normal. Twenty-two fetuses with ganglionic eminence abnormalities were identified. Of 8 with large heads, 2 were diagnosed with MTOR mutations; 1 with PIK3CA mutation-producing megalencephaly, polymicrogyria, polydactyly, hydrocephalus (MPPH) syndrome; 3 with TSC mutations; 1 with megalencephaly capillary malformation syndrome; and 1 with hemimegalencephaly. Cardiac rhabdomyoma was present prenatally in all cases of TSC; mutation postaxial polydactyly accompanied megalencephaly capillary malformation and MPPH. Of 12 fetuses with small heads, 7 had TUBA1A mutations, 1 had a TUBB3 mutation, 2 had cobblestone lissencephaly postnatally with no genetic diagnosis, 1 had a PDHA1 mutation, and 1 had a fetal akinesia dyskinesia sequence with no pathogenic mutation on trio whole exome sequencing. One of the fetuses with a normal head size had an OPHN1 mutation with postnatal febrile seizures, and the other had peri-Sylvian polymicrogyria, seizures, and severe developmental delay but no explanatory mutation on whole exome sequencing. Fetal head size and extracranial prenatal sonographic findings can refine the phenotype and facilitate genetic diagnosis when ganglionic eminence abnormality is diagnosed with MR imaging.

Prenatal sonographic findings and management of placental mesenchymal dysplasia

Prenatal sonographic findings and management of placental mesenchymal dysplasia

Prenatal detected Isolated Congenital Coronary Artery Fistula (ICCAF) characteristics and impact on the fetal hemodynamic situation: Systematic literature review

Background: Detection of an Isolated Congenital Coronary Artery Fistula (ICCAF) is rarely seen prenatally. We aimed to describe prenatal characteristic and try identify possible prognostic parameters that could guide prenatal assessment and improve counseling. Methods and Findings: A systematic literature review was performed. PubMed database was reviewed for publications using the terms “isolated (congenital) coronary artery fistula, coronary-cameral fistula”. Papers with full description of the parental fistula characteristics were included for evaluation. 22 publications fulfilled search criteria describing a total of 25 pregnancies. Mean gestational age at diagnosis was 25.4 weeks of gestation (range: 19 and 38). ICCAF predominantly drained into the right side of the heart (81.5%) and in most cases into the right atrium in 52.4% (11/21). Prenatal sonographic findings included: Enlargement of the originated coronary artery in all cases (100%), enlargement of the draining structure in 8 (32%), cardiomegaly in 5 (20%), turbulent jet in 6 (24%), to-and-fro flow in the ascending aorta in 6 (24%) and a hydrops fetalis in 2 (8%), of the reviewed subjects. Prenatal findings of high volume shunting through the fistula, hydrops fetalis or aneurysm were associated with a more serious negative impact on fetal outcome. Conclusion: Prenatal diagnosis of an ICCAF requires an examination of the affected fetal hemodynamic situation by the fistula. Significant derangements in cardiac function, may have relevant postpartale consequences. Evaluation of the coronary artery circulation and possible prognostic parameters as the presence of a cardiomegaly, isolated cardiac chamber enlargement, to-and-fro flow in the aortic arch, dilatation of one of the great vessels, the size, tortuosity, length of the fistula and hydrops fetalis should be examined and targeted management be performed.

Early detection of Emanuel syndrome: a case report

Abstract Objectives Emanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies. Case presentation Here, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination. Conclusions Every anatomical difference should always be further investigated in order to achieve the correct diagnosis.

Trizomi 13 ve 18 ile ilişkili prenatal sonografik bulgular; tek bir merkezde prenatal tanı konmuş olguların sunumu

Purpose: In this retrospective study, we aimed to evaluate the prenatal sonographic findings of the fetuses with trisomy 13 and 18. Materials and Methods: The sonographic findings of fetuses which were prenatally diagnosed as trisomy 13 and 18 were retrospectively reviewed in two years’ period at a single tertiary perinatal center. The most common findings for each aneuploidy were described. Results: Total 13 cases were diagnosed as trisomy 13 or 18 during two years’ period of which three cases were trisomy 13 and 10 cases were trisomy 18. Major sonographic abnormality associated with trisomy 13 was holoprosencephaly while cardiac abnormalities were the leading finding for trisomy 18. Conclusion: Trisomy 13 and 18 have major prenatal sonographic findings that may be detected with a targeted sonographic examination. Fetal cardiac and central nervous system abnormalities are the primary major findings associated with trisomy 13 and 18.

Fetal Meconium Peritonitis - Prenatal Findings and Postnatal Outcome: A Case Series, Systematic Review, and Meta-Analysis.

To describe the postnatal outcome of fetal meconium peritonitis and identify prenatal predictors of neonatal surgery. We retrospectively reviewed all fetuses with ultrasound findings suspicious for meconium peritonitis at a single center over a 10-year period. A systematic review and meta-analysis were then performed pooling our results with previous studies assessing prenatally diagnosed meconium peritonitis and postnatal outcome. Prenatal sonographic findings were analyzed to identify predictors for postnatal surgery. 34 cases suggestive of meconium peritonitis were diagnosed at our center. These were pooled with cases from 14other studies yielding a total of 244 cases. Postnatal abdominal surgery was required in two thirds of case (66.5 %). The strongest predictor of neonatal surgery was meconium pseudocyst (OR [95 % CI] 6.75 [2.53-18.01]), followed by bowel dilation (OR [95 % CI] 4.17 [1.93-9.05]) and ascites (OR [95 % CI] 2.57 [1.07-5.24]). The most common cause of intestinal perforation and meconium peritonitis, found in 52.2 % of the cases, was small bowel atresia. Cystic fibrosis was diagnosed in 9.8 % of cases. Short-term neonatal outcomes were favorable, with a post-operative mortality rate of 8.1 % and a survival rate of 100 % in neonates not requiring surgery. Meconium pseudocysts, bowel dilation, and ascites are prenatal predictors of neonatal surgery in cases of meconium peritonitis. Fetuses with these findings should be delivered in centers with pediatric surgery services. Though the prognosis is favorable, cystic fibrosis complicates postnatal outcomes.

Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter)

Introduction. Partial trisomy of chromosome 12 long arm is rare condition with significant clinical impact and is usually diagnosed postnatally. Case report. We present prenatal sonographic findings and molecular cytogenetic characterization of partial trisomy 12q and partial monosomy 2q in two consecutive pregnancies of a healthy non-consanguineous couple. A 35-year-old pregnant woman G3P1A1 was referred to genetic counseling due to sonographic anomalies detected in the fetus. First trimester ultrasound examination revealed hyperechogenic focus in the left cardiac ventricle, single umbilical artery, hyperechogenic bowel and unilateral clubfoot with knee joint ankylosis. Previous pregnancy of the couple was terminated at 26th gestation weeks due to multiple fetal anomalies: bilateral ventriculomegaly, corpus callosum hypoplasia, single umbilical artery and clubfoot. In G3P1A1, amniocentesis was performed and cytogenetic analyses revealed a derivative chromosome 2. Subsequent cytogenetic analyses of parental lymphocytes showed that paternal karyotype was normal, while maternal karyotype showed a der(2). Metaphase fluorescence in situ hybridization (FISH) studies demonstrated partial trisomy 12q24.2?12qter and partial monosomy 2q37.3?2qter in the fetus, resulting from an unbalanced segregation of a maternal balanced translocation t(2;12)(q37.3;q24.2). To date, this is the first such prenatally detected case. Literature search revealed three more cases of prenatally detected partial trisomy 12q and anomalies described were consistent with ones detected in present case. Our findings contribute to further clinical delineation of partial trisomy 12q. Conclusion. Prenatal detection of single umbilical artery, clubfoot, arthogryposis and ventriculomegaly should alert suspicion to chromosome 12q aberrations.

Incidence of congenital thoracic malformations detected by prenatal ultrasound.

The increased and earlier use of prenatal ultrasound has facilitated the detection of congenital thoracic malformations (CTMs). Our Pediatric Pulmonology Institute follows an increasing number of patients with CTMs. Thus, we aimed to evaluate and describe prenatal sonographic findings of CTM, and to estimate changes in detection rates of CTMs over a period of 16years. A retrospective, cross-section analysis of prenatal ultrasound (US) screening tests carried out in a large community-based clinic, comparing two periods: 2001-2007 and 2007-2017. A total of 34716 prenatal US were performed at a median gestational age of 15.4 weeks (range, 11.6-23.9) and 15.7 weeks (range, 12-33.6) in 2001-2007 and 2007-2017, respectively. In 2001-2007, 12016 prenatal US tests detected 19 CTMs, compared to 30 CTMs in 22 700 tests in 2007-2017. Detection rates did not change (1.58/1,000 in 2001-2007 versus 1.32/1,000 in 2007-2017, P = 0.64). The most common abnormality was congenital pleural effusion (CPE) (17 cases, 34.7%), followed by congenital pulmonary airway malformation) and congenital diaphragmatic hernia; 13 cases each, 26.5%. Twenty CTMs, mainly congenital diaphragmatic hernia and CPE, were associated with other fetal lesions. Congenital diaphragmatic hernia and CPE tend to appear with multiple lesions and warrant further attention. The incidence rates stayed stable when comparing the last decade to previous years. Thus, the increased referral of CTM can be attributed to an increase in the number of prenatal screening studies performed, rather than a true higher incidence.

Sirenomelia: Study of Three Cases

AbstractSirenomelia is a rare congenital anomaly which is an extreme example of caudal regression syndrome characterized by lower limb fusion, sacral and pelvic bony anomalies with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems (Kanagagiri et al. JMSCR 5(7), 2017). It is a sporadic occurence with no increased risk in subsequent pregnancies. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation (Mirzapur et al. Glob J Reprod Med 3(5):555624, 2018). Prenatal sonographic findings of sirenomelia (or mermaid fetus) were retrospectively reviewed in three proven cases.

Prenatally diagnosed de novo segmental amplification or deletion by microarray-based comparative genomic hybridization: A retrospective study

ObjectivePrenatal diagnosis of de novo segmental amplification or deletion by microarray-based comparative genomic hybridization (array CGH) is uncommon. The study aimed to know about the incidence, abnormal ultrasound findings, and pregnancy outcomes of prenatally diagnosed de novo segmental amplification or deletion by array CGH. Materials and methodsBetween January 2014 and December 2017, we analyzed pregnant women who received prenatal array CGH (SurePrint G3 Human CGH Microarray Kit, 8 × 60K) at Chang Gung Memorial Hospital, Taiwan. Clinical data on maternal age, reason for fetal karyotyping, sonographic findings, gestational age at delivery, newborn birth weight, and associated anomalies, if any, were obtained by chart review. ResultsA total of 836 specimens (814 amniotic fluid samples, 4 cord blood samples, 18 chorionic villi samples) were analyzed by array CGH during the study period. Of the 56 cases with abnormal array CGH results, 40 had segmental amplification or deletion, 12 had trisomy, three had monosomy, and one had sex chromosome aneuploidy. Of these 40 cases with segmental amplification or deletion, 30 were inherited and 10 were de novo occurrences. The incidence of de novo segmental amplification or deletion was 1.2% (10/836). Abnormal prenatal ultrasound findings occurred in 40% (4/10) of de novo segmental amplification or deletion cases. Among these 10 pregnancies, nine were voluntarily terminated between 22 and 26 weeks of gestation and one was delivered at term. ConclusionsPrenatal diagnosis of de novo segmental amplification or deletion by array CGH raises important genetic counseling issues. In our series, the incidence of de novo segmental amplification or deletion in prenatal samples was 1.2%. Abnormal prenatal sonographic findings occurred in 40% of these de novo segmental amplification or deletion cases. Of these de novo segmental amplification or deletion pregnancies, 90% were voluntarily terminated.

Examination of Prenatal Sonographic Findings: Intra-Abdominal Bowel Dilation Predicts Poor Gastroschisis Outcomes

Background: Gastroschisis is an anterior abdominal wall defect with variable outcomes. There are conflicting data regarding the prognostic value of sonographic findings. Objectives: The aim of this study was to identify prenatal ultrasonographic features associated with poor neonatal outcomes. Method: A retrospective review of 55 patients with gastroschisis from 2007 to 2017 was completed. Ultrasounds were reviewed for extra-abdominal intestinal diameter (EAID) and intra-abdominal intestinal diameter (IAID), echogenicity, visceral content within the herniation, amniotic fluid index, defect size, and abdominal circumference (AC). Ultrasound variables were correlated with full enteral feeding and the diagnosis of a complex gastroschisis. Results: Bivariate analysis demonstrated an increased time to full enteral feeds with increasing number of surgeries, EAID, and IAID. Additionally, there was a significant relationship between IAID and AC percentile with the diagnosis of complex gastroschisis. On multivariate analysis, only IAID was significant and increasing diameter had a 2.82 (95% CI 1.02–7.78) higher odds of a longer time to full enteral feeds and a 1.2 (95% CI 1.05–1.36) greater odds of the diagnosis of a complex gastroschisis. Conclusions: Based on these findings, IAID is associated with a longer time to full enteral feeding and the diagnosis of complex gastroschisis.

Antenatally detected ureterocele: Associated anomalies and postnatal prognosis

ObjectiveWe purposed to review prenatal diagnoses of ureterocele, to determine the sonographic findings and additional abnormalities, and to illustrate the pregnancy outcomes of these patients. Material and methodsWe reviewed the records of 24 patients with the diagnosis of ureterocele in our referral center between January 2010–March 2017. Prenatal sonographic findings, antenatal course, and postnatal follow-up were obtained. ResultsThe mean gestational age at first US diagnosis was 24.5 ± 2.9 weeks. 13 (54.1%) of fetuses were female, and 11 (45.9%) were male. Ureterocele was associated with the duplex kidney in 17 (70.8%), MCDK in 5 (20.8%) and hydronephrosis with a single system in 1 (4.2%) and pelvic kidney in 1 (4.2%) fetuses. Postnatal follow-up was achieved in 22 of 24 (91.6%) cases, and mean follow-up interval was 56 ± 14.2. Months. The diagnosis of ureterocele was confirmed in 22 (91.6%) cases postnatally. 15 of 22 (68%) cases were classified as extravesical ureterocele, and 7 (32%) cases were intravesical ureterocele. Postnatal confirmation of duplex kidney achieved in 16 of 17 (94.1%) patients. 17 (77.2%) patients were required surgical intervention, and 5 (22.8%) cases were managed conservatively. 15 of 16 (93.7%) cases who were diagnosed duplex kidney underwent surgery however 2 of 5 (40%) cases which were confirmed MCDK required an operation. Cystoscopic ureterocele incision was the initial approach for the surgical management and performed all of the cases which required surgery. It was curative in 10 of 17 (58.8%) patients and 7 (41.2%) cases needed to further operations. Ureteroselectomy and common-sheath ureteroneocystostomy was performed in 5 (29.1%) cases and. 2 (%11.7%) cases underwent partial nephrectomy. ConclusionUreterocele can be accurately diagnosed by prenatal sonography, and it is a significant clue for the diagnosis of a duplex kidney. Postnatal prognosis depends on associated anomaly and presence of reflux and upper pole function.

Isolated bladder exstrophy in prenatal diagnosis.

Isolated classic bladder exstrophy (CBE) is the most common variant of the bladder-exstrophy-epispadias complex (BEEC). The BEEC represents a spectrum ranging from isolated epispadias over CBE to the most severe form, cloacal exstrophy. We report on a series of 12 cases with CBE diagnosed prenatally and illustrate the spectrum of prenatal ultrasound findings with comparison to prior published reports on this entity. This was a retrospective study involving 12 fetuses with CBE at two large tertiary referral centers in Germany over a 14-year period (2004-2018). Median diagnosis was made with ultrasound in 24 + 5 (IQR25,75: 21 + 2, 29 + 0) weeks of gestation. All fetuses presented with the pathognomonic findings non-visualization of the fetal bladder and protruding abdominal mass below the umbilical cord insertion. All fetuses showed normal kidney anatomy and normal amniotic fluid throughout pregnancy. Epispadia was visible prenatally on ultrasound in 6/8 male fetuses. 1/12 Parents opted for termination of pregnancy, 11/12 fetuses were live born and received reconstructive surgery. Isolated CBE is an extremely rare prenatal sonographic finding. Prenatal diagnostics should exclude additional malformations within the spectrum of cloacal malformations.

The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China

Objective: To report the experience with first-trimester prenatal detection of pregnancies complicated by trisomy 18.Study design: Proven cases of trisomy 18 identified between 11 and 14 weeks of gestation were retrospectively reviewed. Information on maternal demographics, prenatal sonographic findings, indications for prenatal diagnosis and chromosomal analysis results was obtained by reviewing medical records.Results: During the 7-year period from January 2011 to December 2017, 89 cases of full trisomy 18 had first-trimester indications for prenatal diagnosis at Guangzhou Women and Children’s Medical Center. Eighty-five (95.5%) had abnormal sonographic findings in the first trimester. The most common finding was increased nuchal translucency (55.1%), followed by cystic hygroma (18.0%), omphalocele (14.6%), and fetalis hydrops (11.2%). Four cases (4.5%) were not associated with any abnormal first-trimester sonographic finding, and were diagnosed because of routine positive screening results for trisomy 18. A single case was diagnosed because of a positive cell-free DNA (cfDNA) result.Conclusion: These results demonstrate that a large number of fetuses with trisomy 18 have abnormal sonographic findings in the first trimester, and support the continued utility of first-trimester sonographic examination in the diagnosis of this trisomy even with the availability of cfDNA.

Table of Contents, Volume 176A, Number 10, October 2018

The following three articles for this Special Issue were previously published and can be found in their respective issues online:Non‐Pharmacological Treatment of Psychiatric Disorders in Individuals with 22q11.2 Deletion Syndrome; a Systematic ReviewErik Boothttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38612Expanding the Fetal Phenotype: Prenatal Sonographic Findings and Perinatal Outcomes in a Cohort of Patients with Confirmed 22q11.2 Deletion SyndromeJulie S. Moldenhauerhttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38665Elucidating the diagnostic odyssey of 22q11.2 deletion syndromeAnne S. Bassetthttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38645

Congenital dacryocystocele: sonographic evaluation of 11 cases

To report prenatal sonographic findings of congenital dacryocystocele. The medical records of all cases diagnosed with congenital dacryocystocele at a tertiary care center from 2003 to 2015 were reviewed retrospectively. Eleven cases of congenital dacryocystocele were analyzed. No accompanying fetal anatomic anomalies where detected. Mean maternal age at evaluation was 22years of age (range, 17-32years). Four of 10 cases were primigravidas. The mean gestational age at evaluation was 32.6weeks' gestational age. Ten out of 11 cases occurred in female fetuses (91%). Of the 11, 10 cases were unilateral and 1 was bilateral. The mean diameter at evaluation was 5.1mm. Spontaneous resolution occurred in 2 cases (18%). In the remaining 9 fetuses, postnatal diagnosis of dacryocystocele were confirmed by an ophthalmologist evaluation. Prenatally diagnosed congenital dacryocystocele may undergo spontaneous resolution before birth. However, a better understanding of the prenatal sonographic findings can help to appropriately orient parents of potentially affected fetuses. Referral to a pediatrician and pediatric ophthalmologist may be considered for complete evaluation and postnatal management.

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Of 41 cases, 30 cases (73%) were syndromic craniosynostosis, eight cases (20%) were non-syndromic craniosynostosis and the other three cases (7%) were secondary craniosynostosis of chromosomal deletion syndromes. The prenatal ultrasound detection rate was 61%. Half of the cases of syndromic craniosynostosis detected during the perinatal period were Pfeiffer syndrome; there were also six cases of Apert syndrome, three cases of Crouzon syndrome and other rare form of syndromic craniosynostosis (Beare-Stevenson syndrome, Saethre-Chotzen syndrome, cranioectodermal dysplasia, and thanatophoric dysplasia). Abnormal shape of the skull was the most common finding leading to prenatal diagnosis of craniosynostosis. Abnormal head biometry, which was the second most frequent finding, was closely correlated with deformation of the cranial shape. Three cases presented with ventriculomegaly and exophthalmos but normal cranial shape and size. The overall survival rate of infants with syndromic craniosynostosis was 79%, while all of the infants with non-syndromic craniosynostosis survived. In conclusion, prenatal diagnosis of craniosynostosis is difficult, especially when dysmorphic change of the fetal cranium is not evident. Abnormal head biometry and ventriculomegaly could potentially be additional markers of fetal craniosynostosis and consequently increase the prenatal detection rate.

Trisomy 22 with long spina bifida occulta

Introduction:Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies.Patient concerns:The unborn baby of a 35-year-old pregnant woman was found to have several anomalies during a prenatal sonographic scan, including intrauterine growth retardation, ventricular septal defect, flat facial profile, and unclear bilateral kidney structures.Diagnoses:The fetus was diagnosed as having complete non-mosaic trisomy 22 by chromosomal analysis.Interventions:The pregnancy was terminated at 24 weeks, and autopsy was permitted.Outcomes:Postmortem examinations revealed additional long-sectional spina bifida occulta and imperforate anus.Conclusions:This was the first time a case of spinal cord defect was reported in trisomy 22 fetuses. More attention should be paid to the spinal cord during sonographic examinations in trisomy 22 fetuses.