Incidence Of Congenital Anomalies Research Articles

Exposure to drinking water pollutants and non-syndromic birth defects: a systematic review and meta-analysis synthesis

ObjectivesTo evaluate the association between drinking water pollutants and non-syndromic birth defects.DesignSystematic review and meta-analysis synthesis.Data sourcesA search of MEDLINE, EMBASE and Google Scholar was performed to review relevant citations...

Analysis of non-targeted variants by invasive prenatal diagnosis for pregnant women undergoing preimplantation genetic testing

To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism. Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up. This study has been approved by the Medical Ethics Committee of the Sixth Affiliated Hospital of Sun Yat-sen University (No. 2022ZSLYEC-491). A total of 172 couples were included in this study, and 26 non-targeted variants were discovered upon prenatal diagnosis, including 10 cases (38.5%) by chromosomal karyotyping, 15 (57.7%) by chromosomal microarray analysis (CMA), and 1 (3.8%) by whole exome sequencing. The 10 karyotypic anomalies had included 6 chromosomal polymorphisms, 2 chromosomal mosaicisms, 1 paternally derived translocation, and 1 missed maternal chromosomal inversion. CMA has identified 15 copy number variations (CNVs), which included 11 microdeletions and microduplications, 3 loss of heterozygosity, and 1 low-level mosaicism of paternal uniparental disomy. One CNV was classified as pathogenic, and another one was likely pathogenic, whilst the remaining 13 were classified as variants of uncertain significance. Therefore, 8.7% of CNVs was detected by invasive prenatal diagnosis after PGT. 92.3% (24/26) of the non-targeted variants have been due to technological limitations of next-generation sequencing (NGS). Invasive prenatal diagnosis after PGT can detect non-targeted variants, which may further reduce the incidence of birth defects.

In utero nicotine exposure affects murine palate development.

Despite data linking smoking to increased risk of fetal morbidity and mortality, 11% of pregnant women continue to smoke or use alternative nicotine products. Studies confirm that nicotine exposure during pregnancy increases the incidence of birth defects; however, little research has focused on specific anatomic areas based on timing of exposure. We aim to determine critical in utero and postnatal periods of nicotine exposure that affect craniofacial development, specifically palate growth. Malformation of the palatal structures can result in numerous complications including facial growth disturbance, or impeding airway function. We hypothesized that both in utero and postnatal nicotine exposure will alter palate development. We administered pregnant C57BL6 mice water supplemented with 100 μg/mL nicotine during early pregnancy, throughout pregnancy, during pregnancy and lactation, or lactation only. Postnatal day 15 pups underwent micro-computed tomography (μCT) analyses specific to the palate. Resultant pups revealed significant differences in body weight from lactation-only nicotine exposure, and μCT investigation revealed several dimensions affected by lactation-only nicotine exposure, including palate width, palate and cranial base lengths, and mid-palatal suture width. These results demonstrate the direct effects of nicotine on the developing palate beyond simple tobacco use. Nicotine exposure through tobacco alternatives, cessation methods, and electronic nicotine delivery systems (ENDS) may disrupt normal growth and development of the palate during development and the postnatal periods of breastfeeding. Due to the recent dramatic increase in the use of ENDS, future research will focus specifically on this nicotine delivery method.

Prevention of premature birth in female patients with bacterial vaginosis using a complex of natural antimicrobial peptides and cytokines

Introduction. The prevalence of bacterial vaginosis (BV) comprises 23–29 %, which in pregnant women is a known risk factor for premature birth (PB) that rates increases by 2.9-fold. BV treatment with antibiotics has no effect PB incidence, therefore stressing a need to search for alternative remedies.Aim: to evaluate the effectiveness of treatment, including antibacterial therapy and a complex preparation containing natural antimicrobial peptides and cytokines, to reduce the incidence of birth defects in pregnant women with BV.Materials and Methods. Design: a prospective open comparative cohort study in parallel groups was conducted with 101 pregnant women: Group I (n = 69) received the antibiotic Metronidazole, 500 mg tablets orally twice a day for 7 days, and a complex preparation containing exogenous natural antimicrobial peptides and cytokines (Superlymph®) suppositories per 25 IU once a day vaginally in the evening for 20 days; Group II (n = 32) received Metronidazole alone (the same regimen). Patient examination was carried out using approaches included clinical methods, accepted in obstetrics, and laboratory tests – microscopy of vaginal content smears, real-time polymerase chain reaction (PCR).Results. The PB (within 240–366 weeks) incidence in Group I was significantly lower than in Group II and comprised 2.9 % vs. 21.9 %, respectively (p = 0.004), with an 8-fold decline in developing PB risk (relative risk (RR) = 0.13; 95 % confidence interval (CI) = 0.03–0.60), whereas inter-group percentage of pregnant women with high risk (PB history) was comparable (p = 0.39) so that PB incidence did not differ from pregnant women without former PB. Microbiological recovery after treatment for BV was achieved in 85.5 % of patients from Group I vs. 56.3 % in Group II (RR = 1.52; 95 % CI = 1.10–2.10; p = 0.002) based on real-time PCR data. The persistence of anaerobic flora after treatment was significantly lower in Group I vs. Group II reaching 7.2 and 34.4 % (p < 0.001), respectively, with a 5-fold lower PB risk (RR = 0.21; 95 % CI = 0.08–0.56). Cessation of viral shedding compared to the number of patients with initial viral shedding was achieved in 94.6 % vs. 8.3 % of patients, respectively, with a 50-fold decline in risk (RR = 0.02; 95 % CI = 0.005–0.08; p < 0.001). The number of newborns weighing less than 2500 g was significantly lower from paired mothers who received Superlymph® + Metronidazole comprising 2.9 % vs. 15.6 % treated with Metronidazole alone (p = 0.03), whereas a risk of low birth weight neonates was decreased by 6-fold (RR = 0.16; 95 % CI = 0.03–0.88). The condition of the neonates assessed by birth Apgar score was comparable.Conclusion. The use of a complex preparation Superlymph® (suppositories per 25 IU once an day vaginally, for 20 days) along with oral antibiotic Мetronidazole in pregnant women with BV facilitates a decline in PB incidence down to 2.9 % at gestational age of 240–366 weeks lowering a risk of PB exceeding that of antibacterial therapy by 8-fold, including patients with former PB.

P-749 Maternal and obstetric outcomes following the transfer of embryos warmed with fatty acid supplemented solutions

Abstract Study question Does fatty acid (FA) supplementation into warming solutions influence maternal and obstetric outcomes after single vitrified-warmed cleavage stage embryo transfer (SVCT)? Summary answer FA-supplemented warming solutions improve the live birth rate after SVCTs without exerting any adverse effects on maternal and obstetric outcomes. What is known already Vitrification procedures decrease the intracellular lipid content and impair developmental competence. Adding fatty acids (FAs) to the warming solution has been shown to recover the lipid content of the cytoplasm and improve developmental competence and clinical pregnancy by stimulating the beta-oxidation pathway in warmed embryos. Recently, the FA-supplemented warming solutions have been commercially released. However, influence of the FA-supplemented supplementation on live birth rate after embryo transfers and perinatal outcomes remains unknown. Study design, size, duration The clinical records of 701 treatment cycles in 701 women who underwent SVCTs were retrospectively analysed. Vitrified embryos were warmed using solutions (from April 2022 to June 2022, control group, n = 340) or FA-supplemented solutions (from July 2022 to September 2022, FA group, n = 361). All pregnant women were invited to respond to the questionnaire at 9 weeks of gestation and after delivery. Maternal and obstetric outcomes were obtained from a self-reported questionnaire completed by the patients. Participants/materials, setting, methods The embryos in the FA group were warmed with the FA-supplemented solutions (VT526, Kitazato Corporation) while the embryos in the control group were warmed with the non-supplemented solutions (VT506, Kitazato Corporation). SVCTs were performed on day 2 after ovulation in natural cycles. The live birth rate, incidence of pregnancy complications, and neonatal outcomes were compared between the control and FA groups. Main results and the role of chance The live birth rate was higher in the FA group than in the control group (P = 0.0399). The miscarriage rates were comparable between the groups. Multivariate logistic regression analysis also demonstrated a higher probability of live births in the FA group than in the control group (adjusted odds ratio, 1.46; P = 0.0404). Patients were stratified by median maternal age for further analysis (37 years). This subgroup analysis showed that the live birth rate was significantly higher in the FA group than in the control group in women younger than 37 years of age. However, the live birth rate was comparable between the two groups for women aged 37 years or older. The incidence and types of pregnancy complications were comparable between the control and FA groups. Furthermore, caesarean section rates were similar between the groups. The average gestational age and incidence of preterm delivery were comparable between the groups. Birth length and weight, incidence of low birth weight, incidence of small for gestational age and large for gestational age, and infant sex were comparable between the groups. The incidence of birth defects was similar between the groups. Multivariate logistic regression analysis revealed a similar trend. Limitations, reasons for caution The single-centre retrospective study limits the strength of the study, necessitating further multicentre studies to ascertain the generalizability of these findings to other clinics with different protocols and/or patient demographics. Furthermore, the number of perinatal cycles was low. Wider implications of the findings The FA-supplemented warming solutions improved the live birth rates after SVCTs, particularly in young patients. Furthermore, the incidence of pregnancy complications and infant health was not affected by the FA-supplemented solutions. Therefore, FA-supplemented solutions can be considered safe and effective at improving clinical outcomes and reducing the patient burden. Trial registration number not applicable

Performance analysis of non-invasive prenatal testing for trisomy 13, 18, and 21: A large-scale retrospective study (2018–2021)

BackgroundNon-invasive prenatal tests (NIPT) are used to screen for trisomy 21, 18, and 13. This study investigated NIPT performance and the clinical significance of its results. MethodsPregnant women (n = 282,911) participating in a free NIPT (April 2018–December 2021) were screened for common trisomies, and the results were retrospectively analyzed. NIPT performance was evaluated by its positive predictive value (PPV), sensitivity, and specificity. Results were analyzed using number, percentage, and chi-squared/t-test analyses. ResultsAfter NIPT screening, patients with common trisomies (n = 746) included 457 with T21, 160 with T18, and 129 with T13. Seven false negative cases were identified. High PPV (86.81 %, 56.81 %, 18.18 %), sensitivity (99.25 %, 98.33 %, 100.00 %), and specificity (99.98 %, 99.98 %, 99.97 %) values were detected for trisomy 21, 18, and 13, respectively. The PPVs of common trisomies were significantly different between pregnant women older than 35 (85.53 %, 136/159) and those aged 35 or younger (58.90 %, 311/528) (χ2 = 125.02, P = 2.20e-16). As the NIPT uptake increased from 2018 to 2021, live-born birth defect incidence decreased. ConclusionNIPT performed well in screening for T21, T18, and T13. Our discoveries offer an important and useful guideline in laboratory and clinical genetic counseling.

Maternal and obstetric outcomes following the transfer of embryos warmed with fatty acid-supplemented solutions

BackgroundVitrification procedures decrease intracytoplasmic lipid content and impair developmental competence. Adding fatty acids (FAs) to the warming solution has been shown to recover the lipid content of the cytoplasm and improve developmental competence and pregnancy outcomes. However, the influence of the FA supplementation on live birth rates after embryo transfers and perinatal outcomes remains unknown. In the present study, we examined the influence of FA-supplemented warming solutions on live birth rates, pregnancy complications, and neonatal outcomes after single vitrified-warmed cleavage-stage embryo transfers (SVCTs).MethodsThe clinical records of 701 treatment cycles in 701 women who underwent SVCTs were retrospectively analyzed. Vitrified embryos were warmed using solutions (from April 2022 to June 2022, control group) or FA-supplemented solutions (from July 2022 to September 2022, FA group). The live birth rate, pregnancy complications, and perinatal outcomes were compared between the control and FA groups.ResultsThe live birth rate per transfer was significantly higher in the FA group than in the control group. Multivariate logistic regression analysis further demonstrated a higher probability of live births in the FA group than in the control group. Miscarriage rates, the incidence and types of pregnancy complications, the cesarean section rate, gestational age, incidence of preterm delivery, birth length and weight, incidence of low birth weight, infant sex, and incidence of birth defects were all comparable between the control and FA groups. Multivariate logistic regression analysis further demonstrated no adverse effects of FA-supplemented warming solutions.ConclusionsFA-supplemented warming solutions improved live birth rates after SVCTs without exerting any adverse effects on maternal and obstetric outcomes. Therefore, FA-supplemented solutions can be considered safe and effective for improving clinical outcomes and reducing patient burden.

Correlations of Birth Defects With Birth Weight and Gestational Age

Objective To analyze the incidence rate of birth defects in infants born at different gestational ages and birth weights,so as to provide a basis for improving the surveillance system and reducing the incidence of birth defects. Methods Data of all perinatal infants born at and after 28 weeks of gestation and within 7 days after delivery in all the hospitals with the obstetrical department from October 1,2003 to September 30,2015 were collected. Results From 2003 to 2015,1 236 937 perinatal infants were monitored,including 10 619 with birth defects (incidence rate of 8.59‰).Among the infants with birth defects identified by the hospital surveillance system of birth defects in Xi'an during the study period,3 306,3 473,and 224 infants showed the birth weights less than 2 500 g,the gestational age within the range of [28,37] weeks,and the gestation age≥42 weeks,respectively.The low birth weight infants showed higher incidence rate of birth defects than the normal birth weight infants (χ2=37 097.79,P<0.001).The premature infants (gestational age<37 weeks) and postterm infants (gestational age≥42 weeks) showed higher incidence rates of birth defects than infants born at normal gestational age (χ2=24 998.24,P<0.001;χ2=196.40,P<0.001).The top five birth defects of low birth weight infants were congenital hydrocephalus,spina bifida,congenital heart disease,anencephaly,and cleft lip and cleft palate.The outcomes of birth defects in normal weight infants and low weight infants were mainly live births (68.60%) and stillbirths (54.72%),respectively,which showed a significant difference (χ2=647.59,P<0.001).The main outcomes of birth defects in the infants born at normal gestation age,postterm infants,and premature infants were mainly live births (77.38%),live births (83.93%),and stillbirths (57.79%),respectively,which showed significant differences (premature infants vs.infants born at normal gestation age: χ2=2 025.08,P<0.001;premature infants vs. postterm infants:χ2=245.39,P<0.001;infants born at normal gestation age vs.postterm infants:χ2=16.28,P=0.001). Conclusions Premature infants,low birth weight infants,and postterm infants showed significantly higher incidence rate of birth defects than the infants born at normal gestation age.The outcomes of birth defects had significant differences between low birth weight infants and normal birth weight infants,between premature infants and infants born at normal gestation age,between premature infants and postterm infants,and between infants born at normal gestation age and postterm infants.

Presidential Speech IAPSCON 2023.

Respected Chief Guest, guests from overseas, esteemed colleagues, dear students, and friends, I am deeply honoured to address you at this prestigious gathering at the Indian Association of Paediatric Surgeons (IAPS) Conference. I take this opportunity to remind all members that our responsibility extends far beyond our operating theatres. The Incidence of congenital anomalies in India is still 18.2/1000 live births with a high mortality of about 6.78/1000 live births, with a vast majority of these children with congenital anomalies being born into poor families, resulting in a large proportion of children being left untreated or incompletely treated. To address these problems, the IAPS makes the following suggestions: (1) Urgent instructions from the government to insurance providers to launch affordable and easily accessible insurance policies that address the needs of newborns, infants, and children. (2) To ensure the appointment of at least one pediatric surgeon for every pediatric intensive care unit/neonatal intensive care unit being set up in district hospitals. (3) To make pediatric surgery an essential subject in the undergraduate curriculum at MBBS level and ensure that medical colleges and district hospitals have at least one full-time pediatric surgeon on their faculty. (4) To ensure that newborns and children (up to the age of 18 years) have access to a pediatric surgeon or specialist who is well trained in surgery on children, much like medical problems in this age group are treated by pediatricians, surgical problems should be entrusted to pediatric surgeons. Someday, a pediatric surgeon for every child's operation may become a reality. Hope that day is not too far away.

Incidence and Types of Congenital Anomalies in Newborns of Yazd Hospitals during Six Years (2016- 2021) Based on National Mother and Newborn Health Registration System

Background: Congenital anomalies are responsible for a remarkable proportion of disability and mortality in newborns. Therefore, the aim of this study is to investigate the incidence and types of congenital anomalies in newborns born in Yazd hospitals during the years 2016 to 2021.&#x0D; Methods: In this cross-sectional descriptive study, the data of all live births from 2016 to 2021 in hospitals of Yazd were extracted from the database of the National Mother and Newborn Health Registration System of Shahid Sadoughi University of Medical Sciences.&#x0D; Results: From a total of 151,566 live births during six years, congenital anomalies were seen in 1338 (0.88%) newborns. The most common congenital anomalies involved the cardiovascular system (0.31%), followed by musculoskeletal anomalies (0.16%), gastrointestinal tract (0.14%), and genital system (0.1%), respectively. The incidence increased from 0.63% in 2016 to 1.05% in 2021, with the highest incidence observed in 2020 (1.31%).&#x0D; Conclusion: The incidence of congenital anomalies in Yazd is lower than in most studies in Iran. However, shows an increasing trend over the years which can be due to the improvement of diagnostic methods especially in the case of congenital heart anomalies. However, more extensive studies on maternal risk factors and neonatal outcomes are needed

Prevalence of congenital malformation among neonates born after the use of progesterone for luteal support during IVF and ICSI cycles

Introduction: This study assessed the prevalence of congenital malformation among neonates born after using progesterone for luteal support in patients undergoing IVF and ICSI cycles. Methods: This retrospective cohort study was conducted in the Reproductive Endocrinology and Infertility Department of a tertiary hospital. Two groups were compared: one group received only Cyclogest or Crinone gel, and the other group received a combination of Cyclogest or Crinone gel with Proluton Depot injection Results: A total of 91 patients were included, all of whom took progesterone during their IVF and ICSI cycles. The minimum age of the participants was 21, and the maximum was 41. 16.5% (n=15) patients who received progesterone for luteal support during their IVF and ICSI cycles gave birth to infants with congenital malformation, while 76 (83.5%) did not. The most commonly observed congenital malformation was patent ductus arteriosus, observed in 5 cases (5.49%), followed by delayed speech observed in 2 (2.2%). Brachydactyly, Down syndrome, autism spectrum disorder, and a number of other conditions were observed at a rate of 1.1%. Ultimately, no significant association was found between the two groups and the incidence of congenital malformations (p = 0.121). Conclusion: Our review indicates that the incidence of congenital anomalies was similar across the different treatment groups.

Ectopic expression of human TUBB8 leads to increased aneuploidy in mouse oocytes

Aneuploidy seriously compromises female fertility and increases incidence of birth defects. Rates of aneuploidy in human eggs from even young women are significantly higher than those in other mammals. However, intrinsic genetic factors underlying this high incidence of aneuploidy in human eggs remain largely unknown. Here, we found that ectopic expression of human TUBB8 in mouse oocytes increases rates of aneuploidy by causing kinetochore–microtubule (K–MT) attachment defects. Stretched bivalents in mouse oocytes expressing TUBB8 are under less tension, resulting in continuous phosphorylation status of HEC1 by AURKB/C at late metaphase I that impairs the established correct K–MT attachments. This reduced tension in stretched bivalents likely correlates with decreased recruitment of KIF11 on meiotic spindles. We also found that ectopic expression of TUBB8 without its C-terminal tail decreases aneuploidy rates by reducing erroneous K–MT attachments. Importantly, variants in the C-terminal tail of TUBB8 were identified in patients with recurrent miscarriages. Ectopic expression of an identified TUBB8 variant in mouse oocytes also compromises K–MT attachments and increases aneuploidy rates. In conclusion, our study provides novel understanding for physiological mechanisms of aneuploidy in human eggs as well as for pathophysiological mechanisms involved in recurrent miscarriages.

Comprehensive application of multiple molecular diagnostic techniques in pre-implantation genetic testing for monogenic.

Pre-implantation genetic testing for monogenic disorders (PGT-M) is an effective approach to reducing the incidence of birth defects by preventing the transmission of inherited diseases to offspring. However, there are still controversies regarding the detection methods and transplantation of embryos. This paper aims to evaluate the effectiveness of different detection technologies applied to PGT-M through a retrospective analysis of clinical detection data. The carrier status of pathogenic mutations and chromosomal copy number variants (CNVs) in 892 embryos was characterized using next-generation sequencing (NGS), single-nucleotide polymorphism (SNP) array, and PCR-based detection technologies. Clinical data from PGT-M cases were retrospectively analyzed to assess the effectiveness of these detection methods in identifying genetic abnormalities in embryos. A total of 829 embryos were analyzed, with 63 being unsuccessful. Our study revealed that the success rate of detecting deletional mutations using Gap-PCR 84.9%, which is lower than that of SNP array (98.7%) and NGS (92.5%). However, no significant difference was observed when detecting point mutations using any of the methods. These findings suggest that, when detecting deletional mutations, SNP array and NGS are more suitable choices compared to Gap-PCR. While SNP array may have a lower resolution and success rate (80.5%) in analyzing CNVs compared to NGS (95.5%), it may still be useful for revealing certain abnormal types. In conclusion, this study found that SNP analysis is advantageous for identifying polygenic and deletional mutations, whereas NGS is more cost-efficient for detecting common monogenic diseases. Additionally, SNP-based haplotyping and PCR-based direct detection of mutations can be used together to enhance the accuracy and success rates of PGT-M. Our findings offer valuable insights for PGT technicians in choosing suitable detection methods for patients.

Assessment of Congenital Anomalies Encountered During Laparoscopic Cholecystectomy

Objective: To determine the congenital anomalies encountered during laparoscopic cholecystectomy.&#x0D; Methodology: The study was conducted in the Department of Surgery from February 2021 to July 2021 following ethical approval, included patients scheduled for cholecystectomy due to gallstone disease. Both male and female participants aged 18 to 60 years who consented to participate were encompassed. Laparoscopic techniques under general anesthesia were employed, and anomalies observed during surgery were meticulously documented using a predefined proforma. Subsequently, all collected data were entered and subjected to analysis using SPSS version 26.&#x0D; Results: A total of 143 patients were included in the analysis. The average age of the patients was 41.34 years, and the average duration of hospital stay was 6.28 days. The overall incidence of congenital anomalies among patients who underwent laparoscopic cholecystectomy was 18.88%. The most common anomaly observed was cystic artery anomalies, affecting 8.39% of patients, followed by cystic duct anomalies (3.49%), right hepatic duct anomaly (2.79%), gall bladder anomalies (2.9%), and the least common being the presence of a common hepatic artery (1.39%).&#x0D; Conclusion: In summary, the study revealed an overall incidence of anatomical variations during laparoscopic cholecystectomy of 18.88%, with cystic artery anomalies emerging as the most common variation. It is essential to consider these anomalies during the procedure to mitigate potential complications.

FETOMATERNAL OUTCOME OF GESTATIONAL DIABETES MELLITUS IN PRIMIGRAVIDA DELIVERED AT TERTIARY CARE HOSPITAL

Objective: To determine the Prevalence of gestational diabetes mellitus (GDM) in primigravida and their feto-maternal outcome who delivered at tertiary care hospital in western Rajasthan. Methods: A retrospective chart review study will be conducted on primigravida delivered at the department of Obstetrics and Gynaecology, MDM Hospital Dr. S. N. Medical College, Jodhpur, Rajasthan, India from May 2022 to December 2022. Results: The prevalence of GDM in primigravida was 6.42%, maximum occurrence between 34 and 36 weeks of gestation (53.3%). 8.8% of GDM patients had a preterm delivery, out of these 8 women polyhydramnios were seen in 4 women. 49% had lower segment cesarean section and 3% had instrument delivery. preeclampsia was seen in 25.56%, urinary tract infection in 10%, preterm labor was seen in 8.89%, premature rupture of membrane was seen in 5.56% of the study population. 10% of babies were low birth weight. The incidence of congenital anomalies was seen in 6.6%. Intrauterine death was seen in 2 babies who had congenital anomalies. Conclusion: GDM is associated with adverse complications in both the mother and fetus.

Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy

To understand the clinical risks associated with the transfer of embryos classified as a mosaic using preimplantation genetic testing for aneuploidy. Analysis of data collected between 2017 and2023. Multicenter. Patients of infertility treatment. Comparison of pregnancies resulting from embryos classified as euploid or mosaic using the 20%-80% interval in chromosomal intermediate copy numbers to define a mosaic result. Rates of spontaneous abortion, birth weight, length of gestation, incidence of birth defects, and chromosomal status during gestation. Implanted euploid embryos had a significantly lower risk of spontaneous abortion compared with mosaic embryos (8.9% [n = 8,672; 95% confidence interval {CI95} 8.3, 9.5] vs. 22.2% [n = 914; CI95 19.6, 25.0]). Embryos with mosaicism affecting whole chromosomes (not segmental) had the highest risk of spontaneous abortion (27.6% [n = 395; CI95 23.2, 32.3]). Infants born from euploid, mosaic, and whole chromosome mosaic embryos had average birth weights and lengths of gestation that were not statistically different (3,118 g and 267 days [n = 488; CI95 3,067, 3,169, and 266, 268], 3052 g and 265 days [n = 488; CI95 2,993, 3,112, and 264,267], 3,159 g and 268 days [n = 194; CI95 3,070, 3,249, and 266,270], respectively). Out of 488 infants from mosaic embryo transfers (ETs), one had overt gross abnormalities as defined by the Centers for Disease Control and Prevention. Most prenatal tests performed on pregnancies from mosaic ETs had normal results, and only three pregnancies produced prenatal test results reflecting the mosaicism detected at the embryonic stage (3 out of 250, 1.2%; CI95 0.25, 3.5). Although embryos classified as mosaic experience higher rates of miscarriage than euploid embryos (with a particularly high frequency shortly after implantation), infants born of mosaic ETs are similar to infants of euploid ETs. Prenatal testing indicates that mosaicism resolves during most pregnancies, although this process is not perfectly efficient. In a small percentage of cases, the mosaicism persists through gestation. These findings can serve as risk-benefit considerations for mosaic ETs in the fertility clinic.

P-168 Follow-up survey of deliveries derived from Day 7 blastocysts

Abstract Study question Does Day 7 blastocyst-transfer affect prognosis of babies born? Summary answer There was no effect on growth up to 3 years of age in babies from Day 7 blastocyst-derived births. What is known already Culture medium and technology have advanced, and the efficiency to culture up to the blastocyst stage in order to obtain viable embryos has increased dramatically. As a result, blastocyst transfer is associated with higher clinical pregnancy outcomes than cleavage transfer. In 1998, it was first reported that some embryos may develop into blastocysts on Day 7. However, there are few reports on neonatal outcomes from Day 7 blastocyst transfer. Therefore, the utility of Day 7 blastocysts is controversial. Study design, size, duration This was retrospective study which included 23 cases where there was a live birth after single embryo transfer of a Day 7-derived blastocyst. The incidence of birth defects, birth weight was recorded as well as a physical development survey. The height and weight were recorded in 10 children aged 18-months and 4 children aged 3 who responded to follow-up survey. The time period was from January 2013 to December 2021. Participants/materials, setting, methods Patient seeking fertility treatment at an established private IVF clinic. We compared the birth weight, and birth after 18-months and 3 years height and weight of children born to a Day 7 blastocyst with data from babies born from Day 5 and Day 6 derived blastocysts. Statistical significance was determined using Kruskal-Wallis test. Main results and the role of chance The incidence of birth defects was 2.4% (115/4828), 1.7% (16/954) and 0% (0/23) in the Day 5, Day 6 and Day 7 groups, respectively. The average birth weight of the Day 7 group was 3057+/-532 g, which was not significantly different from 3024+/-472 g and 3041+/-480 g in the Day 5 and Day 6 groups. The average height at 18-months, was 80.0+/-5.3 cm, 79.8+/-5.1 cm, 77.8+/-6.9 cm in the Day 5, Day 6 and Day 7 groups, respectively. The average weight at 18-months, was 10.5+/-1.2 kg, 10.4+/-1.1 kg, 10.5+/-1.4 kg. The average height at 3 years old, was 93.2+/-4.8 cm, 92.9+/-4.7 cm, 93.4+/-5.9 cm. The average weight at 3 years old, was 13.9+/-1.6 kg, 13.8+/-1.4 kg, 14.1+/-2.6 kg, respectively. There was no significant difference in average height and weight up-to the 3 years old follow-up survey. Limitations, reasons for caution The incidence of Day 7 blastocyst-transfer is low and the study was limited to cases of single blastocyst embryo transfer. The study was not separated by sex, because sample size was small. Wider implications of the findings There was no difference in growth up to a 3-year-old follow-up survey of the Day 7 blastocyst compared with the Day 5 and Day 6 groups. Transfer of a Day 7-derived blastocyst does not appear to affect infant development and should be considered in cases where blastocyst development is delayed. Trial registration number not applicable

P-163 Three-year follow-up of babies born derived from mono-pronuclear zygotes

Abstract Study question Are neonatal outcomes normal up to 3 years of ages from the transfer of blastocysts derived from mono-pronuclear(1PN) zygotes? Summary answer There was no effect on growth up to 3 years of ages in babies born from 1PN-implanted blastocysts. What is known already In human ART, 1PN zygotes are observed at low rates. We have previously reported that 80.7% of 1PN zygotes had a biparental chromosome using a Live-Cell imaging technique, and some of these developed to the blastocyst stage (Tokoro et al. ASRM 2013). Furthermore, we have reported that these blastocysts can result in a viable pregnancy and healthy live birth (Tsuji et al. ASRM 2020), and there was no effect on growth up to 18-months (Tsuji et al. ESHRE 2021). However, there is no information on the long-term prognosis of babies derived from1PN-zygotes. Study design, size, duration This was a retrospective study which included 86 cases where there was a live birth after single embryo transfer of a blastocyst derived from 1PN zygote. The incidence of birth defects, birth weight were recorded as well as a physical development survey of 19 children who responded to a 3-years follow-up survey. The time period was 108 months (January 2013 to December 2021). Participants/materials, setting, methods Patients seeking fertility treatment at an established private IVF clinic. We compared the birth weight, 3-years old height and weight of children born from 1PN zygotes with data from a control, 2PN group. Statistical significance was determined using the t-test (level of P &amp;lt; 0.05). Main results and the role of chance The incidence of birth defects in 1PN embryo-derived infants was 1.2% (1/86). The average birth weight of boys in the 1PN group was 3147.6+/-408.7 g, which was not significantly different from 3070.5+/-479.5 g in the 2PN group. In girls, the average birth weight was 3048.1+/-510.7 g in the 1PN group, which was not significantly different from the 2PN group (2966.2+/-462.7 g). The average height at 18-months, was 81.3+/-2.5 cm vs 80.9+/-3.4 cm for boys; 79.5+/-2.2 cm vs 79.5+/-3.0 cm for girls in the 1PN and 2PN groups, respectively. The average body weights of the 1PN and 2PN groups were 11.0+/-1.2 kg vs 10.8+/-1.1 kg for boys; 9.8+/-1.0 kg vs 10.2+/-1.1 kg for girls, respectively. The average height at 3-years, was 95.2+/-3.1 cm vs 93.8+/-4.5 cm for boys; 91.5+/-2.9 cm vs 92.5+/-4.9 cm for girls in the 1PN and 2PN groups, respectively. The average body weights of the 1PN and 2PN groups were 14.7+/-1.2 kg vs 14.1+/-1.5 kg for boys; 13.2+/-1.9 kg vs 13.6+/-1.5 kg for girls, respectively. There was no significant difference in average height and weight up-to the 3-years follow-up survey. Limitations, reasons for caution The incidence of 1PN- zygotes that develop to blastocysts resulting in births is low and the study was limited to cases of single blastocyst embryo transfer. Wider implications of the findings The incidence of congenital anomalies in Japan is around 1.7 to 2%, and the incidence was similar in the 1PN group. Also, there was no difference in 3-years follow-up survey of the 1PN compared with the 2PN. These data are reassuring for the clinical utility of 1PN derived embryos. Trial registration number not applicable

The effect of China’s birth policy changes on birth defects—A large hospital-based cross-sectional study

ABSTRACT A retrospective analysis of birth data hospital-based obtained from 14 monitoring areas in the Huaihe River Basin from 2009 to 2019 was conducted. Trend in the total prevalence of birth defects (BDs) and subgroups were analyzed using the Joinpoint Regression model. The incidence of BDs increased gradually from 118.87 per 10,000 in 2009 to 241.18 per 10,000 in 2019 (AAPC = 5.91, P < 0.001). Congenital heart diseases were the most common subtype of BDs. The proportion of maternal age younger than 25 decreased but the age 25–40 years increased significantly (AAPC<20=-5.58; AAPC20–24=-6.38; AAPC25–29 = 5.15; AAPC30–35 = 7.07; AAPC35–40 = 8.27; All P < 0.05). Compared with the one-child policy period, the risk of BDs was greater for groups among maternal age younger than 40 years during the partial and universal two-child policy period (P < 0.001). The incidence of BDs and the proportion of women with advanced maternal age in Huaihe River Basin is increasing. There was an interaction between changes in birth policy and the mother’s age on the risk of BDs.

Persalinan pada Ibu Berusia Kurang dari 20 Tahun di RSUD Kabupaten Buleleng

Background: Pregnancy with less than 20 years of age is an important problem because it belongs to the high risk group. This is related to the increased risk of maternal complications during pregnancy and childbirth, as well as in the perinatal. From the preliminary study, the incidence of maternity mothers aged less than 20 years old at Buleleng Regency Hospital in 2021 was 7.3%. Purpose: The purpose of the study was to look at the picture of childbirth in mothers less than 20 years old. Method: This study used descriptive methods with a sample of all babies born to maternity mothers aged less than 20 years at Buleleng Regency Hospital for the period September - December 2021 as many as 236 study subjects. Results: The results of this study obtained an average maternal age of 17.2 years, an average gestational age of 36.9 weeks, an average birth weight of 2791.2 grams, a 1 minute 72% normal Apgar score, a 5-minute Apgar score of 76.7% normal, no incidence of congenital abnormalities, a stillbirth event of 4.2%, the distribution of events based on maternal age is more found in the mother's age is more found in the mother group aged 16-19 years. Conclusion: There are still many pregnancies in mothers less than 20 years old, there is no incidence of congenital abnormalities, still the incidence of stillbirth.