Search

Aim Methods Results Conclusions In Japan, noninvasive prenatal testing (NIPT) has been performed by facilities accredited by the Japanese Society of Obstetrics and Gynecology since 2013. However, since 2016, with the implementation of NIPT, which can only be performed by blood sampling, non‐obstetricians have been involved in prenatal testing. Therefore, in July 2022, a new government‐involved NIPT certification system based on Health Sciences Council guidelines was introduced to ensure access to prenatal testing information for pregnant women.This survey was conducted in February 2023 and was the first survey after the certification system implementation. We conducted a web‐based survey of 1227 pregnant women and nursing mothers who underwent NIPT after July 2022 to evaluate their experiences.Respondents were categorized by certification status as certified (C: 56%), non‐certified (non‐C: 23%), or uncertain (Q: 20%). The C group with a higher mean age at examination (35.0 ± 4.5 years) paid lower examination fees, received longer pre‐ and post‐examination explanations, and underwent more weekday examinations (80%) than the other groups. Most respondents, 67%, 48%, and 53% in the C, non‐C, and Q groups, respectively (p < 0.0001), stated that “NIPT needs to be regulated by the government or academic societies.” The non‐C group was more likely to say, “Insufficient post‐test explanations at the laboratory made me more anxious,” than the other groups when the testing results were non‐negative (p = 0.015).Despite government regulation, some pregnant women choose convenience over certified facilities, risking inadequate care. The government should ensure that NIPT is a safe option for all pregnant women. [ABSTRACT FROM AUTHOR]

Non‐immune hydrops fetalis represents the end‐stage status of a variety of diseases, including metastatic tumors. We report a case of non‐immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non‐immune hydrops fetalis associated with multiple nodular lesions. [ABSTRACT FROM AUTHOR]

A 35‐year‐old woman (gravida 1, para 0) was admitted to our hospital at 28 weeks' gestation with vaginal bleeding from placenta previa. Severe fetal bradycardia was observed during fetal heart rate monitoring. Ultrasonography showed widely dilated veins on the fetal surface of the placenta and an extraordinarily low umbilical artery peak systolic velocity in the Doppler study. Umbilical cord torsion was suspected. On the subsequent day, we performed a cesarean section due to worsening fetal heart rate patterns. Umbilical artery blood gas analysis indicated severe acidemia (pH 7.063), and umbilical cord torsion was confirmed at the placental cord insertion site. Diagnosing UCT prenatally is challenging; however, it can be suspected by scanning for the widely dilated veins on the fetal placental surface, termed as the “Sunset Sign,” an abnormally low umbilical artery peak systolic velocity, and other fetal Doppler abnormalities. [ABSTRACT FROM AUTHOR]

We report a case of fetal nasal chondromesenchymal hamartoma (NCMH) first noted on prenatal ultrasound at 34 weeks. A solid‐cystic mass which predominantly hyperechoicgenic and relatively clear margin, was located on the left nasal cavity and pharynx, with anterior extension and moderate blood flow. Further follow‐up ultrasound examination depicted an enlargement of the tumor. Fetal magnetic resonance imaging (MRI) showed an inhomogeneous signal lesion involving the ethmoid sinuses, nasal cavity, and pharynx. The infant, delivered via cesarean section at 37 + 5 weeks, required urgent neonatology intervention due to respiratory difficulties. Neonatal MRI and computer tomography were subsequently performed at 1 day after birth. Surgical excision occurred at 7 days, confirming NCMH via histological examination. Awareness of this entity, is essential to avoid potentially harmful therapies, especially in prenatal period. Considered NCMH in diagnosis when fetal nasal masses presenting with predominantly high‐level echo, well‐defined margins and moderate vascularity. [ABSTRACT FROM AUTHOR]

Aims: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center. Methods: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow‐up were analyzed retrospectively. Results: Nine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene‐negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first‐year survival rate of the cases was 88.8%. Conclusions: Cardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family. [ABSTRACT FROM AUTHOR]

Background and Purpose: The application of classical cytogenetic and DNA‐based molecular techniques to detect cell lineages of mosaicism derived from cultured or noncultured fetal cells may result in discordant results. This retrospective study aimed to assess the inconsistent diagnostic outcomes, technical availability, and limitations of chromosomal microarray analysis (CMA) and karyotyping for mosaicism. Methodology: A total of 75 fetuses diagnosed with mosaicism by karyotype analysis or CMA were selected, and the results from both the methods were compared and further analyzed. Results: A total of 42 (56%, 42/75) CMA results were consistent with karyotypes, consisting of 22 cases of mosaic sex chromosomal abnormalities, 8 routine autosomal aneuploidy cases, 8 other autosome aneuploidy cases, 3 large cryptic genomic rearrangements, and 1 small supernumerary marker chromosome. Discrepancy between karyotype analysis and CMA was observed in 33 (44%, 33/75) mosaicisms involving 15 sex chromosomal abnormalities, 1 routine autosomal aneuploidies, 5 other autosome aneuploidy cases, 8 large cryptic genomic rearrangements, and 4 small supernumerary marker chromosomes. Conclusion: Considering the disparities between methods as well as the cell populations analyzed, both CMA and karyotype analysis have their own advantages and disadvantages. Therefore, CMA should ideally be used in combination with karyotyping to detect more cases of mosaicism than using either test alone. [ABSTRACT FROM AUTHOR]

Aim: To investigate the detectability of noninvasive prenatal screening (NIPS) with conventional sequencing depth to detect fetal copy number variants. Methods: We performed a retrospective study in a total of 19 144 pregnant women. Their cell‐free plasma DNA were assessed for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, and genome‐wide copy number variants by NIPS at conventional sequencing depth. Results: Three hundred seventy‐four cases (2.0%, 374/19 144) with abnormal results were detected, which including 84 cases (0.4%, 84/19 144) with high risk of trisomy 21, 18, and 13, 90 cases (0.5%, 90/19 144) with high risk of sex chromosome abnormalities (SCA), and 44 cases (0.2%, 44/19 144) with high risk of other chromosome aneuploidies. One hundred fifty‐six cases (0.8%, 156/19 144) with high risk of copy number variations (CNVs) were also detected. In following prenatal diagnosis, composite positive predictive value (PPV) of trisomy 21, 18, and 13 was 69.6% (48/69). The PPV of SCAs was 37.3% (19/51). And the PPVs for CNVs was detected as 51.0% (<5 Mb), 71.4% (5 Mb ≤ CNV ≤10 Mb), 56.5% (>10 Mb). Finally, a follow‐up about the pregnancy outcomes were conducted for all available cases. Conclusions: NIPS yielded high PPVs for trisomy 21, 18, and 13 aneuploidies and moderate PPVs for SCAs and CNVs. The screening effectiveness was closely related to the size of CNV fragments. Larger CNVs, especially larger than 5 Mb, could be detected more accurately by NIPS in our analytic technique. Meanwhile, diagnostic confirmation by microarray analysis was highly recommended. [ABSTRACT FROM AUTHOR]

Objective: To describe our individualized management protocol for women with an antenatal diagnosis of vasa previa (VP) and to report maternal and neonatal outcomes in patients managed according to our protocol. Methods: A retrospective study of prospectively collected data of antenatally diagnosed VP managed at our hospital between 2014 and 2021. Obstetric and neonatal outcomes were reviewed and analyzed. Results: Fourteen cases of antenatally diagnosed VP in 5150 total deliveries were analyzed (0.3%) Five cases (36%) of VP were diagnosed during the routine fetal morphological ultrasound screening, and nine cases (64%) were referred to our hospital due to perinatal complications. There were nine cases that required hospitalization (due to fetal growth restriction [FGR] [1], preterm labor [3], patients' request [5]). The other five were asymptomatic. Eight patients were delivered by scheduled cesarean section at around 36 weeks and only three neonates were admitted to NICU with transient tachypnea of newborn. However, six patients required CS before the scheduled dates because of other complications (preterm labor [3], abnormal cardiotocogram patterns [1], FGR [1] and twin pregnancy [1]). Four neonates born by CS before their scheduled dates were admitted to NICU. No cases required prolonged hospitalization and there were no serious neonatal complications. Conclusion: Individualized management may lead to favorable outcomes with VP. Outpatient management may be considered in patients without risk factors. However, maternal hospitalization and earlier scheduled CS should be considered in symptomatic patients or those at risk for preterm delivery. [ABSTRACT FROM AUTHOR]

Objective: This study examined how clients' selection and preference for noninvasive prenatal testing (NIPT) for aneuploidy changed with genetic counseling (GC) performed by certified geneticists at a primary hospital specializing in obstetrics, where other multiple prenatal genetic tests options were available. Methods: A total of 334 couples who underwent GC between 2017 and 2019 were included in the study. The average age of the pregnant women who underwent GC was 35.1 years. Results: Among the 95 couples (28.4%) who wanted NIPT at the start of GC, 10 (10.5%) switched to other tests, and 4 (4.2%) chose not to undergo any test. Among the 106 (31.7%) couples who wanted the combination of ultrasonography and the serum marker test, 12 (11.3%) chose not to undergo the test. Among the 92 (27.5%) couples who were undecided before GC, 21 (22.8%) wanted NIPT, 31 (33.7%) selected combined tests, and 18 (19.6%) did not undergo any test. Conclusion: We have demonstrated the significance of GC before prenatal genetic testing under widespread use of NIPT. Ideally, obstetric facilities should provide GC, or at least, pre‐counseling at their own facilities, and offer multiple prenatal genetic testing options or refer to other facilities for the same. [ABSTRACT FROM AUTHOR]

Aim: Assessment of the fetal adrenal gland (FAG) size and middle adrenal artery (MAA) Doppler parameters in pregnancy recovered from Coronavirus Disease (COVID‐19) and comparison of the values with the healthy control group. Methods: Thirty‐eight pregnant women who had recovered from COVID‐19 infection and 76 healthy control group between 33 and 35 weeks of gestation were involved in this case–control study. Fetuses were examined for fetal biometry, fetal well‐being, adrenal gland dimensions, and Doppler parameters 4–6 weeks after the diagnosis of COVID 19 infection. FAG dimensions were measured in two planes and MAA blood flow velocity was evaluated with pulsed Doppler. Pregnant women with COVID‐19 infection were grouped according to the National Institutes of Health for the severity of the disease, and those with mild and moderate infections were examined in the study. Results: The total adrenal gland (TAG) height, fetal zone (FZ) length and width, and MAA‐Peak Systolic Velocity (MAA‐PSV) were significantly higher, and the MAA‐Pulsatility Index (MAA‐PI) was significantly lower in the COVID‐19 group (p < 0.05). The lower in MAA‐PI and the higher in MAA‐PSV, the width of the FZ, and width of the TAG were found to be significant in the moderate group compared to the mild groups (p < 0.05). Conclusion: COVID‐19 pregnancies might cause early maturation of the FAG and its vasculature depends on the intrauterine stress due to the hyper‐inflammation, so fetuses exposed to maternal COVID‐19 suggested to have an increase in blood flow to the adrenal gland and fetal adrenal size. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to characterize the pathological types, diagnosis, chromosomal abnormalities, and postnatal clinical manifestations of right and double aortic arch malformations in fetuses. Methods: In this retrospective study, all fetuses diagnosed with right or double aortic arch anomalies for whom conventional two‐dimensional echocardiography combined with spatio‐temporal image correlation was performed at our tertiary referral center between December 2012 and December 2021 were included. Results: In total, 234 fetuses with aortic arch abnormalities were identified. Forty‐one cases lost to follow‐up. One hundred ninety‐three cases were included in this study. One hundred eighty‐seven cases with right aortic arch. Six cases with double aortic arch. Most cases of right aortic arch with aberrant left subclavian artery (77/101, 76.2%) were isolated lesions, whereas most of those with mirror‐image branching (45/75, 60%) were associated with intracardiac or extracardiac anomalies. Chromosomal abnormalities were screened prenatally in 113 fetuses with right aortic arch, among whom three with aberrant left subclavian artery (3/63, 4.8%) and eight with mirror‐image branching (8/50, 16%) had chromosome anomalies (p < 0.05). Furthermore, three cases had microdeletion 22q11.2 and these were significantly associated with intracardiac malformations. Conclusions: Most cases of isolated right aortic arch do not present with clinical symptoms except isolated left subclavian artery and isolated left brachiocephalic trunk. In addition, the risk of chromosomal abnormalities in patients with isolated right aortic arch is very low. We recommend that pregnant women should be informed of the risks and benefits of undergoing invasive prenatal chromosomal detection. [ABSTRACT FROM AUTHOR]

Objective: To identify the additional diagnostic value of CNV‐seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis. Method: This was a systematic review conducted in accordance with PRISMA criteria. In order to clarify related research, PubMed, Web of Science databases (including Core Collection, BIOSIS Previews, MEDLINE, and so on), The Cochrane Library and Wiley Online Library were searched with the terms: "prenatal diagnosis," "CNV‐seq," "karyotyping," published from January 2010 to May 2022. No language restrictions. RenMan 5.4 was used for the meta‐analysis. Results: Eight studies were included in this systemic review and meta‐analysis, including 11 091 pregnant women with high‐risk pregnancy factors or with structurally abnormal fetus under ultrasound. CNV‐seq detected a 2% (95% CI, −0% to 4%) additional chromosomal anomalies over conventional karyotyping in the six series. A 4% (95% CI, 3%–6%) pooled mean incremental yield of pathogenic CNVs by CNV‐seq over karyotyping was observed, with a 1%–16% range. Conclusion: CNV‐seq, applied in prenatal diagnosis, may detect more chromosomal abnormalities when compared with karyotyping. With the advantages of wide coverage, high throughput, high resolution, no culture, good compatibility, and adjustable sequencing depth, CNV‐seq has high application value in prenatal diagnosis. [ABSTRACT FROM AUTHOR]

We report here a fatal oligohydramnios case, which was suspected due to autosomal recessive polycystic kidney disease at first, but genetic analysis using chorionic tissue and umbilical cord after stillbirth led to the diagnosis of 17q12 deletion syndrome. Subsequent genetic analysis of the parents showed no 17q12 deletion. In this case, if the fetus had autosomal recessive polycystic kidney disease, the recurrence rate in the next pregnancy was suspected to be 25%, but since it was a de novo autosomal dominant disorder, the recurrence rate is extremely low. When a fetal dysmorphic abnormality is detected, a genetic autopsy not only helps to understand the cause but also provides information about the recurrence rate. This information is important for the next pregnancy. A genetic autopsy is useful in cases of fetal deaths or abortions resulting from fetal dysmorphic abnormalities. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to investigate the factors related to indecisive attitudes toward noninvasive prenatal testing (NIPT) among nonpregnant women of reproductive age. Methods: We conducted an online survey involving nonpregnant Japanese women aged 20–49 years. The questionnaires consisted of a hypothetical question about whether they would decide to undergo NIPT if they were to become pregnant, and responses with "unsure" were defined as indecisive attitudes. Results: Of 1250 participants, 412 (33%) held indecisive attitudes on whether to undergo NIPT. Multivariable logistic regression analysis demonstrated indecisive attitudes were related to a low level of knowledge about prenatal testing (adjusted odds ratio [AOR] 3.89) and preferences for family‐driven decisions (AOR 1.44) instead of provider‐driven. Conclusion: Even though the NIPT is widespread, many nonpregnant women of reproductive age are unable to decide whether to undergo the NIPT or not. Hence, indecisive women toward NIPT require adequate information and communication about future NIPT among their families prior to conception. Therefore, preconception support of providing adequate information about testing and facilitating communication regarding future NIPT among women and their family members may help indecisive women make autonomous decisions on NIPT. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to investigate the contribution of chromosomal microarray analysis (CMA) and next‐generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype who underwent invasive testing for different indications. Methods: The results of invasive genetic testing performed at a tertiary center between September 2020 and March 2022 were retrospectively analyzed. Indications for invasive tests were classified as fetal structural malformation, presence of soft markers, and high risk in screening tests. CMA results were classified as pathogenic or likely pathogenic (pCNVs), benign (bCNVs), and variants of unknown clinical significance (VOUS). Results: A total of 830 invasive tests were performed and aneuploidy was detected in 11.2% of the fetuses. CMA was performed in 465 fetuses with normal karyotype, and pCNVs were detected in 6.9%. pCNVs were detected in 8.2% of fetuses with structural malformations, 6.5% in soft markers, and 4.7% in high risk in screening tests. Pathogenic variants were detected by NGS in 33.8% of fetuses with bCNVs. Conclusions: pCNVs can be significantly detected not only in fetuses with structural malformations, but also in invasive testing with other indications. NGS significantly contributes to genetic diagnosis in fetuses with structural malformations. [ABSTRACT FROM AUTHOR]

Aim: This retrospective study aimed to investigate the value of exome sequencing (ES) in fetuses with isolated first‐trimester increased nuchal translucency (NT) and normal chromosomes. Methods: ES was performed on 103 fetuses with isolated first trimester increased NT and normal chromosomes. The detection rate of monogenic conditions was analyzed. Results: Diagnostic variants were detected in nine cases in which phenotypes and genotypes correlated well, two positive cases were Thanatophoric dysplasia type I, and one case was Kabuki syndrome, which had been detected in previous studies. Eight of the nine cases with diagnostic variants developed additional structural malformations later in pregnancy. Among the nine positive cases, six had a NT thickness between 95th percentile (95th–3.4 mm), and three cases with an increased NT of 3.5 mm or greater. Also, there was no statistical difference in the diagnosis of diagnostic variants in cases with or without a thickened nuchal fold (NF). Conclusions: The diagnostic yield of prenatal ES is low for fetuses with an isolated increased NT. In addition to Noonan syndrome, there are additional genetic syndromes such as Kabuki syndrome and Thanatophoric dysplasia type I that are potentially associated with an increased NT. A cut‐off of greater than the 95th percentile may be useful in case selection for ES. Whether it is clinically meaningful to monitor NF values for fetuses with isolated increased NT and normal chromosomes worth considering. [ABSTRACT FROM AUTHOR]

The 2017 clinical guidelines for obstetrical practice by the Japan Society of Obstetrics and Gynecology and the Japan Association of Obstetricians and Gynecologists were revised and published as the 2020 edition (in Japanese). The aim of these guidelines is to present appropriate standard obstetric diagnosis and management procedures that have reached consensus among Japanese obstetricians. The 2020 guidelines include 113 clinical questions and an appendix, followed by answers (CQ&A; originally 112 in the 2017 edition), a discussion, list of references, and some tables and figures presenting common problems and questions encountered in obstetrical practice. Each answer comes with a recommendation level of A, B, or C and has been prepared based principally on evidence or a consensus among Japanese obstetricians in situations where "evidence" is weak or lacking. Answers with a recommendation level of A or B represent current standard care practices in Japan. All 113 CQ&As and the appendix are presented here to promote a better understanding of the current standard care practices for pregnant and lactating women in Japan. [ABSTRACT FROM AUTHOR]

Kagami‐Ogata syndrome (KOS14) is a rare disease characterized by omphalocele, polyhydramnios and a bell‐shaped thorax. Although the coat‐hanger appearance of the ribs on postnatal X‐rays is a key diagnostic finding of KOS14, its prenatal diagnosis remains challenging. We encountered a case of KOS14 diagnosed prenatally that showed omphalocele, polyhydramnios, and a bell‐shaped narrow thorax. The coat‐hanger angle (CHA) measured at the sixth thoracic vertebrae and the ribs using three‐dimensional (3D) ultrasonography was 39°, reflecting the coat‐hanger appearance of the ribs. Segmental uniparental disomy chromosome 14 (UPD(14)pat) was confirmed by a methylation analysis and microsatellite analysis after birth. The median CHA (minimum, maximum) in 25 normal fetuses was 19 (9, 26) degrees, and a sonographic CHA of 30° may be a border value for diagnosing KOS14. When the combination of omphalocele and polyhydramnios is found prenatally, 3D ultrasonography for CHA might aid in the differential diagnosis of KOS14. [ABSTRACT FROM AUTHOR]

Isolated transposition of the great arteries (TGA) is a congenital heart disease that presents with severe cyanosis after birth and a fetal diagnosis is crucial for the preservation of life. The I‐shaped sign (I‐sign) is useful as a fetal screening method for TGA. We herein present a tricky fetal case of isolated TGA with a side‐by‐side position of the great arteries and no I‐sign. Severe cyanosis immediately after birth necessitated urgent interventions. A potentially fatal outcome was prevented by a prenatal diagnosis. In the fetal diagnosis of isolated TGA, it is important to not only detect the I‐sign, but also conventionally examine the ventricular outflow tract. [ABSTRACT FROM AUTHOR]

Congenital hydrocephalus (CH) is a severe birth defect, and genetics components is an important etiology. Whole‐exome sequencing (WES) has been proven to be a feasible approach for prenatal diagnosis of CH. In this study, we carried out WES on three fetuses with cerebral ventriculomegaly. After bioinformation analysis and data filtering, three compound variants, c.919C>T(p.Arg307Ter)/c.1100del(p.Phe369fs) in FKTN, c.1449_1450insACAACG/c.1490G>C(p.Arg497Pro) in POMGNT1, and c.2690+1G>A/c.1447C>T(p.Arg483Cys) in LAMB1 were detected in the three fetuses. All the six variants were classified as likely pathogenic or pathogenic in accordance with the American College of Medical Genetics and Genomics‐Association for Molecular Pathology guidelines. This study provides support for the potential of WES for the accurate prenatal diagnosis of fetal hydrocephalus and further demonstrated the genetic heterogeneity in patients with CH. The novel variants (c.1449_1450insACAACG and c.1490G>C in POMGNT1, c.2690+1G>A in LAMB1) expanded the gene mutational spectrum of CH and contributes to genetics counseling and pregnancy management. [ABSTRACT FROM AUTHOR]

Primary myxomatous degeneration of cardiac valves is a rare cardiac malformation. We discovered a case of fetal primary myxomatous degeneration of cardiac valves during routine prenatal ultrasound examination. This is the first time such a case has been detected on prenatal ultrasound. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to present the contribution of prenatal magnetic resonance imaging (MRI) in the diagnosis of fetuses that were previously identified as isolated mild and moderate cerebral ventriculomegaly (VM) by ultrasound (US). Methods: The data between February 2013 and August 2020 were collected for women who were diagnosed with isolated mild or moderate fetal VM by US and subsequently underwent a fetal MRI. Results: Among 321 women, 21 (6.5%) had a clinically important additional finding after MRI. Twelve of 276 (4.3%) fetuses with mild VM and 9 of 45 (20%) with moderate VM had turned out to have additional central nervous system abnormalities. Additional findings were detected more in fetuses with moderate VM, mothers with an anterior‐located placenta, and mothers with higher body mass indexes (BMIs) with statistical significance (p = 0.001, p = 0.013, p = 0.036, respectively). The most common additional MRI finding was grade 3 or 4 germinal matrix hemorrhage, which was detected in 11 of 21 fetuses (52.3%). Conclusions: Considering the countries' health policies, prenatal MRI would contribute mostly to the diagnosis of fetuses with moderate VM, pregnancies with anterior‐located placenta, and mothers with high BMIs. According to our data, we believe that MRI will be valuable, especially in the diagnosis of grade 3 and 4 intracranial hemorrhage group. [ABSTRACT FROM AUTHOR]

Aim: A prenatal diagnosis of coarctation of the aorta (CoA) is challenging. This study aimed to develop a coarctation probability model incorporating prenatal cardiac sonographic markers to estimate the probability of an antenatal diagnosis of CoA. Methods: We reviewed 89 fetuses as an investigation cohort with prenatal suspicion for CoA and categorized them into three subgroups: severe CoA: symptomatic CoA and surgery within the first 3 months; mild CoA: surgery within 4 months to 1 year (29); and false‐positive CoA: not requiring surgery (45). Logistic regression was used to create a multiparametric model, and a validation cohort of 86 fetuses with suspected CoA was used to validate the model. Results: The prediction model had an optimal criterion >0.25 (sensitivity of 97.7%; specificity of 59.1%), and the area under the receiver operator curve was 0.85. The parameters and their cut‐off values were as follows: left common carotid artery to left subclavian artery distance/distal transverse arch (LCCA‐LSCA)/DT Index >1.77 (sensitivity 62%, specificity 88%, 95% confidence interval [CI]: 0.6–0.8), and z‐score of AAo peak Doppler > −1.7 (sensitivity 77%, specificity 56%, 95% CI: 0.6–0.8). The risk assessment demonstrated that fetuses with a model probability >60% should have inpatient observation for a high risk of CoA, whereas fetuses with a model probability <15% should not undergo clinical follow‐up. Conclusion: The probability model performs well in predicting CoA outcomes postnatally and can also improve the accuracy of risk assessment. The objectivity of its parameters may allow its implementation in multicenter studies of fetal cardiology. [ABSTRACT FROM AUTHOR]

Aim: To review new challenges of fetal therapy in Japan after the establishment of four existing fetal therapies as standard prenatal care with National Health Insurance coverage over the past 20 years. Methods: Reported studies and our current research activities related to four fetal therapies newly performed in Japan were reviewed. Results: Fetoscopic endoluminal tracheal occlusion (FETO) for congenital diaphragmatic hernia (CDH) aims to occlude the trachea using a detachable balloon to promote lung growth. Following the recent successful completion of an international randomized controlled trial for CDH, in which we participated, FETO is offered for severe left CDH to perform balloon insertion at 27–29 weeks and removal at 34 weeks of gestation. Fetal cystoscopy (FC) for low urinary tract obstruction was introduced to overcome the demerits of vesicoamniotic shunting. FC may provide a proper diagnosis by visual observation of the urethra and physiological treatment of the posterior urethral valve. The effectiveness of open fetal surgery for myelomeningocele (MMC), direct surgery with laparotomy and hysterotomy, for ameliorating hindbrain herniation and the motor function was demonstrated, but it was also associated with substantial maternal and fetal risks. Fetal aortic valvuloplasty (FAV), ultrasound‐guided fetal aortic balloon dilation for critical aortic stenosis with evolving hypoplastic left heart syndrome may improve left heart development and maintain biventricular circulation. Feasibility and safety studies for FC, MMC open fetal surgery, and FAV are currently ongoing. Conclusions: Clinical research on FETO, FC, MMC open fetal surgery, and FAV has proceeded with careful preparations in Japan. [ABSTRACT FROM AUTHOR]

We report a case of a neonatal diagnosis of Prader–Willi syndrome caused by uniparental disomy. A 34‐year‐old pregnant woman underwent noninvasive prenatal testing (NIPT) in a hospital that was not certified by the Japanese Association of Medical Sciences. The results of trisomy 13, 18, and 21 were negative; however, a possible abnormality in chromosome 15 was indicated by the Z‐score. Genetic counseling was not performed; thus, the woman did not understand the implication of this result. Therefore, she continued with the pregnancy and delivered a boy weighing 1892 g with hypogonadism at 38 weeks and 5 days. The infant was diagnosed with Prader–Willi syndrome caused by uniparental disomy derived from trisomy rescue. The NIPT results may have reflected placental mosaicism, emphasizing the importance of understanding the limitations of NIPT due to the presence of congenital chromosomal abnormalities that cannot be detected by NIPT platforms. [ABSTRACT FROM AUTHOR]

We present a case of fetal atrioventricular block, heterotaxy, and ventricular noncompaction observed longitudinally from the first to early second trimesters using B‐mode and Doppler imaging, including superb microvascular imaging. At 12 weeks of gestation, the atrial and ventricular rates were 133 and 67 beats/min, respectively, and dextrocardia was noted. At 15 weeks of gestation, detailed sonography revealed ventricular septal defect, interruption of the inferior vena cava, dilated azygos vein, and double‐outlet right ventricle. In addition, superb microvascular imaging revealed irregular contours in the anatomical left ventricular wall, indicating prominent trabeculations of the ventricle, which were characteristic findings of ventricular noncompaction. At 21 weeks of gestation, intrauterine fetal death occurred, and the autopsy revealed complex congenital heart disease, including ventricular noncompaction. [ABSTRACT FROM AUTHOR]

Objective: To identify trophoblastic cells retrieved from the cervix at a gestational age (GA) of 5–9 weeks by a noninvasive modality in fetuses. Method: Transcervical cells (TCCs) were noninvasively extracted by a cytobrush using the Papanicolaou sampling method. TCCs were immunostained with antihuman leukocyte antigen (HLA)‐G and anticytokeratin (CK)‐7 antibodies to identify trophoblastic cells. Maternal finger blood, gestational sacs, and 20 trophoblastic cells collected by a laser‐guided microscopic single‐cell capture system were examined and compared by short tandem repeat (STR) genotyping. Results: Forty‐nine pregnant women with GA of 5–9 weeks and six nonpregnant healthy women were included in the study. Trophoblastic cells were identified in 37 (75.5%) TCC samples, among which 34 (69.4%) were eligible for STR genotyping analysis. No trophoblastic cells were identified in nonpregnant healthy women. The STR genotyping analyses revealed 24 female and 10 male fetuses. TCC trophoblastic cells exhibited the same STR profiles as gestational sac and maternal blood in all samples, which indicated that the TCC trophoblastic cells originated from fetuses. Conclusion: This primary study validated that trophoblastic cells from TCCs at GA 5–9 weeks originated from the fetus. Further studies are needed to verify whether this method can be used for early noninvasive prenatal diagnosis and paternity testing. [ABSTRACT FROM AUTHOR]

Aim: In this study, we aimed to investigate the role of systemic immune‐inflammation index (SII) and other inflammatory parameters in the diagnosis of placenta accreta spectrum (PAS) and its histological subtypes. Methods: This retrospective case–control study included patients who underwent surgery for placenta previa (PP). Case group (patients with PAS) included pregnant women diagnosed with histologically confirmed PAS, whereas control group (patients with PP) included pregnant women who underwent cesarean section with a PP diagnosis, required no additional intervention during the operation. Both groups were compared with respect to their demographic data, clinical characteristics, SII, and other laboratory parameters. Cut‐off values that can predict PAS were calculated. The PAS group was separated into subgroups based on histology findings, and inflammatory parameters were compared between subgroups. Results: In this study, data of 273 patients were analyzed. Of these, 68 (24.9%) were included in the PAS group and 205 (75.1%) patients were included in the PP group. Significant differences were observed in SII, platelet distribution width, mean platelet volume, neutrophil‐to‐lymphocyte ratio, and platelet‐to‐lymphocyte ratio (p = 0.000, p = 0.006, p = 0.002, p = 0.000, and p = 0.000, respectively). The best SII cut‐off value was 985.02109/L (57.4% sensitivity and 72.2% specificity). There was no significant association between the histologic subtypes of PAS and inflammatory parameters. Conclusion: SII can be used to predict PAS in pregnant women with PP. The relationship between the histologic subtypes of PAS and inflammatory parameters should be investigated in more comprehensive studies. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to evaluate the difference in fetal thymus diameter, which we measured ultrasonographically, between the healthy pregnant group and the pregnant group with gestational diabetes. Method: Fetal thymus and thymus/thorax ratio parameters were assessed in this case–control study. Patients were examined in two groups. They included 49 diabetics (study group) women and 71 nondiabetic (control group). We performed a binary logistic regression analysis to determine the predictive value of ultrasonographic measurements. We completed the receiver curve characteristic analysis to evaluate the cut‐off thymus diameter. Results: The median age of pregnant women was 27. Thymus diameter and thymus‐thorax ratio were smaller in fetuses of diabetic mothers than in the nondiabetic group (p <0.05). Thymus diameter was found to be more predictive of gestational diabetes prediction (p: 0.019). There was no correlation between fasting blood glucose and thymus diameter. Conclusion: Decreased fetal thymus anterior–posterior diameter seems to be associated with diabetic pregnancy. [ABSTRACT FROM AUTHOR]

Aims: The aim of this study was to assess the psychological health associated with prenatal screening in low‐risk pregnancy for chromosomal aneuploidy. Methods: This longitudinal study was performed on 310 low‐risk pregnancies for chromosomal aneuploidies. Using the standard DASS‐21 questionnaire, levels of stress, anxiety, and depression were assessed—prior to the recommended time for the first‐trimester screening test (T1), after the first‐trimester tests on the second referral (T2) concurrently with the request for the second‐trimester tests (T3)—and compared between women undergoing the prenatal screening and in women refusing it. Results: The results showed that the mean of stress, anxiety, and depression levels were not different between groups at T1; but the level of the stress, depression, and anxiety were higher in the screening group than the non‐screening group. The effect of group on changes in the stress, depression, and anxiety levels was significant. Conclusion: The results revealed that the prenatal screening program in low‐risk pregnancies for chromosomal aneuploidy can be followed by rising psychological symptoms and this psychological burden should be conceded on prenatal screening tests for pregnant women. [ABSTRACT FROM AUTHOR]

Aim: To introduce a quantitative determination of heparan sulfate and dermatan sulfate by mass spectrometry and to compare it with two‐dimensional electrophoresis of the glycosaminoglycans in the amniotic fluid for the prenatal diagnosis of mucopolysaccharidoses type II (MPS II). Methods: Thirty pregnancies each with single fetus were subjected to amniocentesis at 16 weeks: 10 with a previously affected MPS II infant and 20 as controls. Prenatal diagnosis was done by both mass spectrometry two two‐dimensional electrophoresis. Results: Two‐dimensional electrophoresis showed four affected with MPS II and six unaffected fetuses. Mass spectrometry verified these results. Conclusion: Two‐dimensional electrophoresis of the glycosaminoglycans in amniotic fluid is a good qualitative method and mass spectrometry is a new accurate quantitative method for prenatal diagnosis of MPS II. Quantitative determination of glycosaminoglycans in amniotic fluid by mass spectrometry is both rapid and accurate. Prenatal diagnosis is recommended for at risk pregnancies and mass spectrometry offers speed and quantitation. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to assess the utility of ultrasound screening for pregnancies with positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. Methods: We performed a retrospective analysis of positive noninvasive prenatal testing results and first‐trimester ultrasound screening at our department between 2013 and 2019. Invasive genetic testing was performed if the patient had positive noninvasive prenatal testing results. Fetal ultrasound and cytogenetic data were collected. Noninvasive prenatal testing was performed in the women for advanced maternal age, nuchal translucency thickness, or history of abnormality in the previous child or relative. Results: Forty‐one pregnant women had positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. Twenty‐three women had positive results for trisomy 21, 13 had positive results for trisomy 18, and 5 had positive results for trisomy 13 at 11 to 14 weeks of gestation. The positive predictive value of noninvasive prenatal testing was 100% for trisomy 21, 84.6% for trisomy 18, and 100% for trisomy 13. The positive predictive value of positive noninvasive prenatal testing results and fetal morphological abnormalities was 100% for trisomy 21, trisomy 18, and trisomy 13. Conclusion: Combining an ultrasound examination with noninvasive prenatal testing resulted in a higher positive predictive value for trisomy 18. Normal ultrasound examination results can help alleviate stress caused by false‐positive noninvasive prenatal testing results. In contrast, the positive predictive value and negative predictive value for trisomy 21 were not altered by adding an ultrasound examination to noninvasive prenatal testing. [ABSTRACT FROM AUTHOR]

Aims: Noninvasive prenatal testing (NIPT) of pregnant women has been performed worldwide since 2011, and it is currently performed in more than 90 countries. However, the rate of adoption in Japan remains at less than 2%. This review seeks to identify the ethical and practical issues surrounding noninvasive prenatal screening—including the purpose of the test, its pros and cons, issues surrounding fair treatment, and social factors—to better understand why the adoption rate remains low. Methods: This study examines the complex ethical issues surrounding noninvasive prenatal testing, including the purpose of the test, its pros and cons, issues related to fair treatment, and social factors. Results: Although cell‐free DNA analysis for common fetal trisomies using maternal blood is highly accurate, lack of access to such testing and discriminatory attitudes in society remain important barriers. Personal choices such as whether to undergo noninvasive prenatal screening and whether to continue a pregnancy are sometimes criticized by those who believe that it leads to the "selection of life" or discrimination against people with disabilities. Conclusions: Obstetrics has changed dramatically in recent years, and prenatal diagnosis technology has also advanced. To keep up with these advances, better information should be provided to ensure the public has a more nuanced understanding of the screening beyond the overused argument that it leads to "selection of life." [ABSTRACT FROM AUTHOR]

We describe a unique case of a pregnancy with fetal Prader–Willi syndrome (PWS). A 40‐year‐old pregnant woman prenatally presented with polyhydramnios, decreased fetal movements, fetal growth restriction with normal Doppler study, and fetal cardiac rhabdomyoma, a possible new sonographic markers for PWS, at 31 weeks of gestation. The newborn had hypotonia and feeding difficulty. Molecular genetic study showed a normal copy number of the 15q11.2–q13.1 chromosomal region but hypermethylation pattern of this region, indicating PWS. Other than the combination of polyhydramnios, fetal growth restriction, and decreased fetal movements, cardiac rhabdomyoma was detected and possibly associated with PWS. In conclusion, PWS should be listed in differential diagnoses if fetuses having the following perinatal factors: polyhydramnios, decreased fetal movements, and growth restriction. Finally, cardiac rhabdomyoma, observed in this case, might possibly be associated with PWS, although further studies to confirm are needed. [ABSTRACT FROM AUTHOR]

A choledochal cyst is a rare abdominal malformation and was first reported almost three centuries before. There are few theories describing the evolution of the cyst through the lifespan of affected patients until diagnosis and prompt treatment; however, there is no image documentation of the evolution of the malformation. In this report, we demonstrate the evolution of a type I choledochal cyst in a fetus from the 24th to the 37th week of gestation using magnetic resonance imaging and perinatal outcomes with correlation with pathophysiological mechanisms. [ABSTRACT FROM AUTHOR]

Objectives: To describe a new sonographic feature of the C‐sign for prenatal diagnosis of jejunal atresia and evaluate its role in prenatal jejunal atresia, particularly preceding bowel dilatation and polyhydramnios. Methods: This was a retrospective study from a tertiary maternal hospital. Patients with prenatal sonographic examination and confirmed small bowel atresia postdelivery were included. All sonographic images were reviewed by two senior sonographers. Comparison of sonographic images between prenatal jejunal and ileal atresia using the C‐sign resembles the shape of the entire duodenum and other traditional sonographic features. The control group without bowel atresia was assessed for the presence of the C‐sign. Results: The C‐sign and combined bowel dilatation with polyhydramnios were more frequent in jejunal atresia than ileal atresia, but the C‐sign can be used to detect jejunal atresia earlier. The C‐sign can be more likely to diagnose jejunal atresia in persisting bowel dilatation and polyhydramnios. The C‐sign was not reported in any of the control fetuses. Conclusion: The C‐sign is a new sonographic feature that can be used to improve the prenatal accuracy and early detection of jejunal atresia. However, further prospective validation is needed. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to evaluate changes in prenatal testing among women with twin pregnancies before and after the introduction of noninvasive prenatal testing (NIPT). To date, no consensus on prenatal testing for twin pregnancies has been reached in Japan. Methods: Women pregnant with twins who requested prenatal testing at Kyushu Medical Center from 2005 to 2018 were included in this study. Genetic counseling was provided to all participants. Their chosen methods of testing were collected and classified as invasive diagnosis (ID), noninvasive screening (NIS), and no test requested (NR). Parity, chorionicity, and methods of conception were assessed as attributes. The study period was divided into three terms according to testing availability in our center. Results: After NIPT was introduced in our center, the use of ID methods decreased and eventually disappeared while NIS came to the forefront. NR was also the preferred choice of women with twin pregnancies before the introduction of NIPT and decreased but did not disappear after introducing NIPT. Women with twin pregnancies who underwent assisted reproduction initially showed hesitation to undergo testing but showed a strong preference for NIS after the introduction of NIPT. Differences in choice according to parity, chorionicity, and methods of conception were found before the introduction of NIPT but disappeared after introducing NIPT. Conclusion: Increasing information about NIPT has apparently influenced the attitudes of women with twin pregnancies to prenatal testing in Japan. In particular, those who conceive through assisted reproductive technologies exhibited a strong preference for NIPT. [ABSTRACT FROM AUTHOR]

We present a case of congenital toxoplasmosis (TXP) in a woman with Toxoplasma gondii infection more than 6 months before conception. The woman has been treated with adalimumab for ankylosing spondylitis for 4 years until 5 months before conception. TXP serology at the first trimester was compatible with infection prior pregnancy. An ultrasound performed at 26 weeks gestation (WG) showed cerebral echogenic lesions compatible with intrauterine infection. Amniocentesis was performed which confirmed TXP fetal infection. Termination of the pregnancy was performed upon parent's requests and the fetal autopsy confirmed the diagnosis. Here, we discuss the potential role of immunosuppressive treatments, such as adalimumab, in the risk of congenital toxoplasmosis and the importance of counseling before pregnancy. [ABSTRACT FROM AUTHOR]

Aim: This study is to investigate the role of amniocentesis for prenatal diagnosis before and after the beginning of noninvasive prenatal testing (NIPT) in Japan. Methods: We performed a retrospective analysis of genetic amniocentesis at mid‐trimester (15–20 gestational weeks) for fetal karyotype analysis at Nagoya City University between April 2006 and March 2020. The indications, test results, and the detection rate of fetal abnormal karyotype were compared before (phase 1, P1) and after (phase 2, P2) beginning of NIPT at April 2013. Results: A total of 2458 (P1: 1132, P2: 1326) amniocentesis were enrolled in this study. The most frequent indication was advanced maternal age in both phases (P1: 78.2% %, P2: 81.1%). In P2, 110 patients (8.3%) received amniocentesis after positive or nonreportable NIPT results. Other indications were fetal abnormal findings by ultrasounds (P1: 15.4%, P2: 17.7%), abnormal maternal serum screening results (P1: 8.0%, P2: 10%), previous child with fetal chromosome aberration (P1: 6.5%, P2: 3.5%), and translocation of either partner (P1:1.5%, P2: 2.1%). The detection rate for fetal chromosomal aberrations including all indications was significantly increased in P2 (15.9%, 95% CI 14.0–18.0) as compared to P1 (9.0%, 7.4–10.8). However, if the indication was only advanced maternal age, the positive detection rate kept low in both phases (P1: 5.2%, 3.7–7.1, P2: 4.2%, 2.9–5.9). Conclusion: Since the initiation of NIPT, the detection rate of fetal chromosomal abnormalities was higher in this study, suggesting that amniocentesis cannot be strongly recommended for advanced maternal age alone. [ABSTRACT FROM AUTHOR]

Anal atresia is the most common malformation occurring in VACTERL association, but it is difficult to diagnose antenatally. We herein present a case of fetal anal atresia in VACTERL association diagnosed by ultrasonography and supported by autopsy. This case emphasizes the clues to ultrasonographic diagnosis of anal atresia at 11–13+6 weeks of gestation, promoting increased awareness of VACTERL association during first‐trimester screening. [ABSTRACT FROM AUTHOR]

Aim: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high‐risk pregnant women. Methods: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age‐specific PPV and NPV were estimated. Results: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78–99.96), 99.12% (95% CI: 96.83–99.76), and 100% (95% CI: 88.30–100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age‐specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. Conclusion: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high‐risk pregnant women, and maternal age‐specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to retrospectively examine the use of lung‐to‐liver signal intensity ratio (LLSIR) on T2‐weighted images to predict functional pulmonary hypoplasia. Methods: The subjects of this study were pregnant women who underwent magnetic resonance imaging (MRI). Patients who required nitric oxide inhalation and those who died from respiratory disorders were classified as having functional pulmonary hypoplasia (FPH). All other cases were presented as the control group. We retrospectively analyzed MRI and perinatal data. LLSIR was defined as the ratio of lung signal intensity to liver signal intensity. We examined the relationship between LLSIR and gestational age, compared the LLSIRs in the two groups, and calculated the best cut‐off value of the LLSIR to predict FPH. Results: One hundred and ninety‐one patients were eligible for this study, and 12 cases were classified as having FPH. In the control group, LLSIR increased with age (r = 0.383, p < 0.001). We used the observed/expected LLSIR (o/e LLSIR), which was the ratio of obtained LLSIR to expected LLSIR calculated by the regression line to correct the effect of gestational age. In the FHP group, o/e LLSIR was significantly lower than in the control group (p < 0.001). A receiver operating characteristic curve analysis showed that cases with o/e LLSIR above 0.85 were less likely to cause FPH. Conclusions: Low o/e LLSIR might reflect the histological characteristics of hypoplastic lung structures. O/e LLSIR seems to be a useful MRI parameter for screening FPH. [ABSTRACT FROM AUTHOR]

Imperforate anus (IA) requires urgent treatment after birth, which is dependent on the type of IA, and is also frequently associated with other congenital abnormalities. Most patients with IA have an accompanying fistula, whose location is strongly associated with the type of IA. The fistula location can be a key factor in defining appropriate treatment, especially in neonates presenting with severe associated abnormalities. Herein, we report three cases of IA in which fistulas were detected and localized prenatally. Examination of the fetal pelvis through the sagittal or coronal view, using high‐frequency transducers, revealed the location of the fistulas. In particular, the sagittal view obtained using the fetal infracoccygeal or perineal approach allowed us to determine the precise anatomy of the fistulas. Neonatal assessment confirmed the fistula locations. We recommend using the sagittal view obtained using the fetal infracoccygeal or perineal approach with high‐frequency transducers to assess fistulas in fetuses with IA. [ABSTRACT FROM AUTHOR]

Here we report an extremely rare case of immature congenital orbital teratoma. The ultrasound scan at the 28+1 week of gestation revealed a massive, solid, and cystic mass in the left orbital region of the fetus. The lesion site was confirmed by magnetic resonance imaging. Based on clinical examination and imaging, the diagnosis of orbital teratoma without intracranial extension was made. Histopathological examination further confirmed the diagnosis of immature teratoma. The clinical course, radiographic, and histopathological findings of this disease were also summarized. [ABSTRACT FROM AUTHOR]

We report two cases of fetal intestinal volvulus (jejunum in case A, ileum in case B) with massive bowel dilatation and loss of peristalsis, which suddenly appeared in the third trimester. The bowel was dilated to different sizes and there were various echogenic patterns of the intestines in case A and a sausage‐like appearance in case B. Case A developed polyhydramnios, whereas case B did not. Among 47 cases of fetal intestinal volvulus (29 articles) in which 32 were diagnosed prenatally, almost all cases with a prenatal diagnosis showed "whirlpool sign" or "coffee bean sign" by sonography and/or findings indicating intestinal hemorrhage. Even without these findings, the presence of dilatation of the intestines and loss of peristalsis occurring in the third trimester were diagnostic clues. The presence of different sizes and various patterns of bowel dilation and hydramnios may be helpful for predicting the involved site of intestinal volvulus. [ABSTRACT FROM AUTHOR]

Aim: The main purpose of our study is to determine the current research status of assisted reproductive technology (ART) and birth defects by means of co‐word analysis, to explore the hot spots and weak points of current research, and to provide ideas and opinions for follow‐up researchers. Methods: The PubMed database was used to investigate the knowledge structures of the applied words ART and birth defects. The published literature was searched until December 31, 2018. The extracted MeSH terms were quantified using the Bibliographic Item Co‐Occurrence Matrix Builder and the high‐frequency MeSH terms were determined. According to the MeSH term‐source article matrix, hierarchical cluster analysis was performed using SPSS 19.0. The high frequency MeSH term co‐occurrence matrix was constructed to support strategic diagram and social network analysis (SNA). Results: According to the search strategy, 1635 papers were included. Of all the extracted MeSH terms, 105 high frequency MeSH terms were identified and the hotspots were classified into nine categories. In the strategic diagram, research on the effects of prenatal diagnosis methods and ART on the development of offspring has been well developed. In contrast, research on reproductive ethics, epigenetics, and epidemiology is relatively immature, indicating the need for future research. For SNA results, the position status of each component is described by the center value. Conclusions: By providing a quantitative bibliometric study, it can help with the overall command of the latest topic and guide researchers in their new projects. [ABSTRACT FROM AUTHOR]

Aim: Families with an adverse history of monogenic disease focus on single‐gene diagnosis instead of low‐depth whole‐genome sequence, during subsequent pregnancies. The aim of this study was to assess the potential usefulness of low‐depth whole‐genome sequencing (copy number variant sequencing [CNV‐seq]) detection following monogenic disease exclusion in prenatal diagnosis. Methods: A total of 285 families with a history of monogenic disease (of 41 different types; eliminated during the current pregnancy) were recruited and retrospectively analyzed. Low‐depth whole‐genome sequencing (CNV‐Seq, Next‐Seq CN500 platform) was performed for all fetuses. Results: The CNV detection results of the 285 samples were as follows: one case of 18‐trisomy chimera (0.35%), one case of pathogenic 3q29 microdeletion syndrome CNV (0.35%), four cases of variant of uncertain significance (VUS) CNVs (1.40%), and four cases of Duchenne muscular dystrophy (DMD) carriers (1.40%); and the remaining samples were normal (96.15%). Of note, 2/285 (0.70%) samples still exhibited pathogenic abnormalities. All positive samples were followed up where the two cases of pathogenic abnormalities elected the pregnancy termination, while the four VUS cases and four DMD‐carrier cases were born healthy. Conclusion: In cases where prenatal fetal monogenic disease has been ruled out, CNV detection is still beneficial and should be performed to prevent missed pathogenic CNVs. However, the costs need to be balanced against benefits, and the research will need to assess other types of testing. [ABSTRACT FROM AUTHOR]

Aim: To investigate the epidemiology of chromosomal abnormalities (CA) in fetuses of all pregnancies based on a provincial‐wide birth defects‐monitoring system, which could provide scientific basis for making relatively policy and research. Methods: Chromosomal abnormalities cases were collected from all hospitals in Hunan Province, China, between 2016 and 2019. The prevalence of CAs was calculated to examine associations among infant sex, maternal age and region. The rates of prenatal diagnosis and termination of pregnancy (TOP) involving CA or associated anomalies were calculated as rates or proportions. Results: From 2016 to 2019, a total of 2 883 890 perinatal infants (28 weeks of gestation to postpartum 7 days) underwent prenatal screening and diagnostic tests, and 3181 fetuses were diagnosed as CA, with the prevalence of 11.03/10 000. The average prevalence of CAs was higher for male than female fetuses (11.33/10 000 vs 10.06/10 000) (OR = 1.13, 95% CI: 1.05–1.21), which was higher in urban areas than rural areas (23.03/10 000 vs 7.13/10 000) (OR = 3.23, 95% CI: 3.02–3.47), and the prevalence increased linearly with maternal age (Xtrend2 = 1821.844, P = 0.000). Among the fetuses with CAs, 3097 (97.36%) were diagnosed prenatally, and 3046 (98.35%) underwent TOP. The majority of CA were numerical abnormalities (90.18%). The main types of numerical autosomal abnormalities were trisomy 21 (6.69/10 000, 59.57%), trisomy 18 (1.13/10 000, 10.04%) and trisomy 13 (0.21/10 000, 1.88%). The main types of numerical gonosomal abnormalities were Klinefelter syndrome (0.68/10 000, 6.02%), Turner syndrome (0.49/10 000, 4.39%), Triple X syndrome (0.26/10 000, 2.29%) and 47,XYY syndrome (0.21/10 000, 1.91%). The three associated anomalies with the highest proportions were congenital heart defects (CHD) (41.06%), cleft palate or/and cleft lip (10.89%) and congenital talipes equinovarus (8.94%). Conclusion: The prevalence of CA was lower than that reported. Chromosome detection should be further promoted including test contest and coverage, especially for urban areas, older mothers and fetuses with CHD, cleft palate or/and cleft lip or congenital talipes equinovarus. [ABSTRACT FROM AUTHOR]

Aim: To investigate the factors influencing decisions concerning prenatal diagnosis (PND) and termination of pregnancy for β‐thalassemia in Thai pregnant women. Methods: A total of 142 Thai Buddhist pregnant women waiting for PND were asked to undertake semi‐structured interviews regarding their reasons for PND and their decisions and reasoning concerning pregnancy if the fetus was found to be affected. The interviews were analyzed using a thematic content approach. Results: Thai pregnant women accepted PND for three reasons: to know whether their pregnancies were affected, to confirm that their pregnancies were unaffected and to terminate if their pregnancies were affected. Three decisions identified among the women were to terminate the pregnancy, to continue the pregnancy and undecided. The interview analysis identified five themes and nine sub‐themes affecting pregnancy‐related decision‐making: (i) quality of life (suffering or no disability); (ii) burden (difficulty or acceptability); (iii) sense of motherhood (the best way for the child or I cannot hurt my child); (iv) significant others (support to terminate, support to continue or support to wait for the test result) and (v) conflict in deciding. Conclusion: An acceptance of PND in Thai pregnant women was not always associated with pregnancy termination. Multiple factors influenced the decision to terminate, but not their religious affiliation. [ABSTRACT FROM AUTHOR]

Aim: The purpose of this study was to establish a simple method to distinguish premature ventricular contractions (PVC) from premature atrial contractions (PAC) using a fetal Doppler ultrasound arterial pulse waveform to measure time intervals between sinus node restarting. Methods: We retrospectively identified 14 fetuses with premature contraction (8 with PAC, 6 with PVC). We measured two distinct parts of time intervals using an arterial pulsed‐wave Doppler: the two consecutive waveforms just before the premature contraction (2‐V interval) and two consecutive waveforms including the premature contraction (XV interval) to measure time intervals between sinus node restarting. We then evaluated the time difference between the 2‐V and XV intervals in PVC compared to PAC. Results: For PVC, the difference between the 2‐V interval and the XV interval was significantly shorter than that for PAC. A cut‐off point of 33 ms, where a difference ≤33 ms was clearly shown to be associated with a PVC and a difference more than 33 ms signified a PAC was demonstrated. Conclusion: The 2‐V and XV interval measurements, used to measure time intervals between sinus node restarting, could easily distinguish PVC from PAC in utero. Therefore, this study could potentially be a feasible and effective method for obstetricians or sonographers to employ usefully. [ABSTRACT FROM AUTHOR]