Rates Of Pregnancy Outcomes Research Articles

Pregnancy and Pregnancy Outcomes in a National Population Cohort of Patients Treated for Substance Use Disorders.

The objectives of this study were to i) provide population-level prevalence rates of pregnancy, birth, elective termination, and miscarriage among females treated for SUDs and their demographic counterparts and ii) examine associations between SUD treatment and pregnancy and elective terminations. Data were analyzed from a prospective registry-linkage study of all females (15-45 years) recorded as treated for SUDs in the Norwegian Patient Registry over a 2-year period (n = 6470) and a non-treated frequency-matched cohort of females from the general population (n = 6286). Pregnancy and pregnancy outcomes over a 4-year follow-up were retrieved from the Norwegian Patient Registry. Multivariable logistic regression models tested for associations of SUD treatment with pregnancy and with elective termination among pregnant females. Annual pregnancy and elective termination rates per 1000 females were significantly higher for the SUD cohort than the non-treated cohort (94.2 vs 71.3 for pregnancy, P < 0.001; 54.7 vs 17.8 for elective termination, P < 0.001), the annual birth rate was lower for the SUD cohort (25.3 vs 41.8, P < 0.001), and the rate of miscarriage did not differ across cohorts. Multivariable analysis showed that SUD treatment was associated with a significant increase in the odds of pregnancy (adjusted Odds Ratio 1.34, Confidence Interval [1.18-1.54]) and the odds of an elective termination, conditional on pregnancy (aOR 2.55, Confidence Interval [1.97-3.29]). Females treated for SUDs had substantially higher odds of pregnancy and elective terminations than the non-treated cohort. To improve their reproductive health, targeted interventions such as free long-acting contraception and integration of family planning guidance into substance use treatment should be considered.

Effects of the Affordable Care Act on Contraception, Pregnancy, and Pregnancy Termination Rates.

To investigate the effects of the Affordable Care Act (ACA) and its elimination of cost-sharing on contraception utilization, pregnancy rates, and abortion rates. We conducted a retrospective cohort study within a healthcare system serving over 4.5 million insured members across 21 medical centers and 250 clinics. The study included women aged 18-45 with continuous health plan membership for at least two years in the pre-ACA (2007-2012) and post-ACA (2013-2018) periods. We analyzed out-of-pocket (OOP) costs for contraception, including oral contraceptives and long-acting reversible contraception (LARC), before and after the ACA's implementation. We then examined how the elimination of OOP costs affected contraception use, pregnancy rates, and abortion rates. The study identified 1,523,962 women of childbearing age. In 2013, cost sharing for contraception sharply declined, with average annual OOP costs dropping from $88-$94 pre-ACA to nearly zero post-ACA. Contraceptive use increased overall, rising from 30.2% pre-ACA to 31.9% by the study's end, with a notable rise in LARC use. In interrupted time-series analyses, while contraception use continued to increase post-ACA, new pregnancy rates declined at a faster rate than pre-ACA, and abortion rates continued to fall, though at a slightly slower pace than pre-ACA (p<0.05 for all trends). The Affordable Care Act's elimination of contraception cost-sharing led to increased contraception use, particularly LARC methods, and contributed to declines in both pregnancy and abortion rates. This suggests that improving access to effective contraception is a key strategy in reducing unintended pregnancies.

Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis.

Nonimmune hydrops fetalis (NIHF) presents as life-threatening fluid collections in multiple fetal compartments and may be led by numerous etiologies. To establish the diagnostic yield of exome sequencing for single-gene disorders in unexplained NIHF and to evaluate the clinical utility of data reanalysis. A series of 53 unexplained cases of NIHF were enrolled, including 39 cases met a strict definition of NIHF, and 14 cases with increased nuchal translucency (NT) and/or cystic hygroma in combination with other fluid collections. Trio ES from fetal samples and parental blood was performed, and clinical reports were returned by geneticists and genetic counselors. Multidisciplinary team forums were conducted for accurate diagnoses and improved patient management. The clinical follow-up assessments were conducted, and the reanalysis was performed for cases with a non-positive result. Diagnostic variants were identified in 22.6% (12/53) of the cases, and variants of potential clinical significance were detected in an additional 13.2% (7/53) of the cases. Of them, 3 possible diagnoses (3/41, 7.3%) were obtained during reanalysis. Notably, half of the diagnosed cases were from the group exhibiting only skin edema and increased nuchal translucency and/or cystic hygroma. The diagnostic rate in this group was 42.8% (6/14), while in the classically defined NIHF group, the rate was 15.4% (6/39). The pregnancy termination and live birth rates of the cases with positive genetic testing results were found to be statistically significantly different from those with negative results (91.7% vs 53.6% and 8.3% vs 36.6%, P < 0.05 for both). ES provides high incremental diagnostic yield for NIHF after standard-of-care testing, and reevaluating non-diagnostic exomes in light of updated knowledge can maximize diagnostic yield. Identifying the etiology of NIHF facilitates prenatal diagnosis, improves the management of NIHF cases, and predicts recurrence risk in future pregnancies.

Maternal and fetal outcomes of antiepileptic treatments during pregnancy: A retrospective study

IntroductionEpilepsy is a disease that affects a significant proportion of the female population worldwide. The management of anti-seizure medications during pregnancy and the potential adverse outcomes to both the mother and fetus represent a significant challenge. This retrospective study aimed to evaluate the impact of anti-seizure medications during pregnancy by comparing maternal and fetal outcomes between pregnant women with and without epilepsy. MethodsA total of 242 participants were analysed, including 112 with epilepsy and 130 healthy pregnant controls. Maternal age, medical history, seizure characteristics, use of anti-seizure medications, and pregnancy history were recorded. Maternal and fetal complications, delivery modes, and perinatal outcomes were evaluated. ResultsA total of 242 patients, including 112 (46.3 %) pregnant women with epilepsy and 130 (53.7 %) healthy pregnant women, were included in the study. Among pregnant patients with epilepsy, 4 (3.5 %) did not use anti-seizure medications, 79 (70.5 %) received monotherapy, and 29 (25.8 %) received polytherapy. The rates of pregnancy termination, spontaneous abortion, and maternal and fetal complications were significantly higher in pregnant women with epilepsy (p = 0.045, p = 0.045, p < 0.001, and p = 0.016, respectively). Folic acid use, planned pregnancy rate and postpartum breastfeeding rate were all statistically lower in pregnant women with epilepsy (p < 0.001, p < 0.001, p < 0.001, respectively). The rates of intensive care unit stay, infants with birth weight less than 2500 g, congenital malformations, and preterm births were significantly higher in babies born to pregnant women with epilepsy (p < 0.001, p = 0.047, p = 0.003, and p = 0.051, respectively). Gestational diabetes mellitus was observed in 4 (13.8 %) and congenital malformations in 4 (14.3 %) of the pregnant women with epilepsy who received polytherapy, and in both cases these rates were statistically higher than those of pregnant women with epilepsy who received monotherapy (p = 0.048 and p = 0.004, respectively). DiscussionThis study demonstrated that pregnancies among women affected by epilepsy have significantly higher rates of maternal and fetal complications, spontaneous abortions, and premature births. Polytherapy with anti-seizure medications is associated with an increased risk of gestational diabetes and congenital anomalies. Notably, folic acid use, planned pregnancy, and postpartum breastfeeding were less common in patients with epilepsy. The most commonly prescribed anti-seizure medications were levetiracetam and lamotrigine. Caesarean section is a common mode of delivery in pregnancies of mothers with epilepsy. ConclusionThese results suggest that epilepsy increases both maternal and fetal complications during pregnancy. Furthermore, the use of anti-seizure medications appears to have a significant impact on pregnancy outcomes. Our findings highlight the need for comprehensive management strategies and informed decision making to reduce risks and optimise maternal and fetal outcomes among women with epilepsy.

Understanding and predicting pregnancy termination in Bangladesh: A comprehensive analysis using a hybrid machine learning approach.

Reproductive health issues, including unsafe pregnancy termination, remain a significant concern for women in developing nations. This study focused on investigating and predicting pregnancy termination in Bangladesh by employing a hybrid machine learning approach. The analysis used data from the Bangladesh Demographic and Health Surveys conducted in 2011, 2014, and 2017 to 2018. Ten independent variables, encompassing factors such as age, residence, division, wealth index, working status, BMI, total number of children ever born, recent births, and number of living children, were examined for their potential associations with pregnancy termination. The dataset undergoes preprocessing, addressing missing values and balancing class distributions. To predict pregnancy termination, 8 classical machine learning models and hybrid models were used in this study. The models' performance was evaluated based on the area under the curve, precision, recall, and F1 score. The results highlighted the effectiveness of the hybrid models, particularly the Voting hybrid model (area under the curve: 91.97; precision: 84.14; recall: 83.87; F1 score: 83.84), in accurately predicting pregnancy termination. Notable predictors include age, division, and wealth index. These findings hold significance for policy interventions aiming to reduce pregnancy termination rates, emphasizing the necessity for tailored approaches that consider regional disparities and socioeconomic factors. Overall, the study demonstrates the efficacy of hybrid machine learning models in comprehending and forecasting pregnancy termination, offering valuable insights for reproductive health initiatives in Bangladesh and similar contexts.

Termination of Pregnancy Following Periconception Isotretinoin Exposure in South Korea

Background: Despite South Korea’s Ministry of Food and Drug Safety (MFDS) risk management program (RMP) since June 2019, isotretinoin prescriptions have surged 2.5 times from 0.39 million in 2017 to 0.97 million in 2021. This study assesses pregnancy termination risk perception and termination following periconception isotretinoin exposure in South Korea. Methods: A dataset of 1785 pregnancies from January 2001 to September 2022 was collected by Korean Mother Safe Counselling Center, which is a call center for teratogenicity information. A semi-structured questionnaire was sent to 1107 women to evaluate the rate of pregnancy termination, trends of their risk of perceptive malformation and termination of pregnancy following isotretinoin exposure in periconception before and after getting the counselling on teratogenic risk from our center. Results: There were 317 respondents from the total 1107 women (28.6%). The termination rate was 29.0% (92 out of 317). The perception of major malformation risk decreased from 77.1% ± 24.5% before getting teratogenicity information to 60.4% ± 31.0% after getting teratogenicity information (p &lt; 0.001). The inclination towards pregnancy termination decreased from 5.6 ± 3.1 before getting teratogenicity information to 4.6 ± 3.5 after getting teratogenicity information (p &lt; 0.001). Among the 214 infants examined, 2 (0.9%) were identified to have major malformations, comprising cases of hydrocephalus (1) and biliary obstruction (1). Conclusions: Our study suggest that the perceptive risk of major malformations and termination of pregnancy is still high after getting the teratogenicity information following periconception exposure of isotretinoin. As a result, approximately 30% of pregnancies are terminated. We suggest that further study is needed.

Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.

Regarding increased nuchal translucency (NT), the cutoff values used are heterogeneous in clinical practice, this study aims to assess the efficacy of prenatal detection for chromosomal abnormalities and pregnancy outcomes in fetuses with varying NT thicknesses, in order to provide data that supports informed prenatal diagnosis and genetic counseling for such cases. We included 2,272 pregnant women under 35 with singleton pregnancies who underwent invasive prenatal diagnosis between 2014 and 2022. The cohort comprised 2,010 fetuses with increased NT (≥2.5 mm) and 262 fetuses with normal NT but exhibiting a single soft marker. Prenatal diagnoses were supported by chromosomal microarray (CMA) and copy number variation sequencing (CNV-seq) analyses. The detection rates of numerical chromosomal abnormalities were 15.4% (309/2,010) and 17.3% (297/1,717) in the NT ≥2.5 and ≥ 3.0 groups, respectively. Pathogenic/likely pathogenic CNV incidence increased with NT thickness (χ2 = 8.60, p < 0.05), peaking at 8.7% (22/254) in the NT 4.5-5.4 mm group. Structural defects were found in 18.4% of fetuses with NT values between 2.5 mm and 2.9 mm. Chromosomal abnormality rates in the isolated increased NT groups of 2.5-2.9 mm and 3.0-3.4 mm were 6.7% (16/239) and 10.0% (47/470), respectively, with no statistical significance (χ2 = 2.14, p > 0.05). Fetuses with NT thickness between 2.5 and 2.9 mm combined with the presence of soft markers or non-lethal structural abnormalities exhibited a significantly higher chromosomal abnormality risk (19.0%) compared to fetuses with isolated increased NT ranging from 3.5 to 4.4 mm (13.0%). Pregnancy termination rates increased with NT thickness (χ2 = 435.18, p < 0.0001), ranging from 12.0% (30/249) in the NT 2.5-2.9 mm group to 87.0% (141/162) in the NT ≥ 6.5 mm group. CMA or CNV-seq exhibited good performance in identifying genomic aberrations in pregnancies with increased NT thickness. NT ranging from 2.5 mm to 2.9 mm elevated the risk of fetal chromosomal abnormalities, particularly when combined with other soft markers.

Factors associated with terminated pregnancies in Sri Lanka: A case study of the Sri Lankan Demographic and health survey (DHS) 2016.

Pregnancy termination is considered to have adverse effects on women's health and to have created financial, economic, and social problems in their lives. This study aimed to identify factors associated with pregnancy termination in Sri Lanka. The study used 2016 Sri Lanka Demographic and Health Survey (DHS) data of 16,323 ever-married women aged 15-49, who were clustered in selected enumerated areas. A binary logistic random intercept multilevel model was fitted to find the association between pregnancy termination and the predictor variables in this study. The overall pregnancy termination rate among Sri Lankan women was 16.14%. Increasing age of women was found to be associated with increasing odds of pregnancy termination. Women who were overweight or obese had higher odds of pregnancy termination, with 14% and 36%, respectively, compared to women with a normal weight. With increasing parity, the likelihood of pregnancy termination decreased. Women who used contraceptives had a 24% higher likelihood of pregnancy termination than those who refrained from using them. Cohabiting women had a 57% higher chance of pregnancy termination. Working women had 15% higher odds than unemployed women. Women who experienced domestic violence had a 14% higher odds of pregnancy termination than those who did not. Women from the Northern, Eastern, and North Central provinces had a lower likelihood of pregnancy termination compared to those from the Western province. Women in the urban sector were more likely to terminate their pregnancy than those in the estate sector. Further, women residing in households where indoor smoking was permitted had a 13% greater chance of ending their pregnancy compared to non-smoking households. The study highlights the importance of restructuring education related to health and well-being, family planning, and work-life balancing for both women and their partners, and developing and implementing or strengthening policies and laws related to mitigating pregnancy termination including domestic violence for women.

Influence of cancer in pregnancy on obstetric and neonatal outcomes: an observational retrospective cohort study.

The study aimed to review the oncological characteristics and treatment of pregnancy-associated cancers and analyze the obstetric and neonatal outcomes to provide evidence-based recommendations for reproductive function preservation, oncological treatment, and obstetric management. We conducted an observational retrospective cohort study among pregnant patients with cancer in 7 Chinese tertiary A hospitals from 2003 to 2021. We conducted multiple logistic regression to determine the influence of various factors on preterm birth and small-for-gestational-age infants, log-binomial regression to analyze temporal changes, and χ² tests to explore the effects of cancer type/treatment. Of 204 women, 17% terminated their pregnancies; 59% received pre-delivery treatment. Every 6 years, the rates of pregnancy termination (relative risk [RR]=0.48; 95% confidence interval [CI]=0.35-0.67) and iatrogenic preterm births (RR=0.73; 95% CI=0.54-0.98) reduced, and that of pre-delivery treatment increased, mainly due to increased rates of surgery (RR=1.87; 95% CI=1.31-2.67). Maternal systemic diseases were related to small-for-gestational-age infants (odds ratio [OR]=12.02; 95% CI=1.82-79.43). Chemotherapy with taxanes plus platinum-based agents was related to adverse obstetric outcomes (OR=1.87; 95% CI=1.42-2.46; p<0.05). Thyroid (OR=0.36; 95% CI=0.22-0.57) and ovarian cancer (OR=0.70; 95% CI=0.50-0.98) were associated with fewer cesarean sections. Thyroid cancer was associated with fetal growth restriction (OR=5.21; 95% CI=1.21-22.55). Rates of pregnancy termination in cancer declined. Taxane plus platinum-based chemotherapy was associated with adverse obstetric outcomes. Cancer type influenced outcomes. Chinese Clinical Trial Register Identifier: ChiCTR2100044292.

Prenatal Diagnosis of Congenital Heart Disease and Voluntary Termination of Pregnancy: A Population-Based Study in Qingdao, China.

The outcomes of fetuses with isolated congenital heart disease (CHD) diagnosed prenatally have not been investigated in a population-based study in China. This population-based study aimed to evaluate the rate of voluntary termination of pregnancy after the prenatal diagnosis of isolated CHD in Qingdao, China. This was a population-based retrospective study in which data were collected from all pregnant women in Qingdao (eastern China) from August 2018 to July 2020; fetal data, maternal data and data on pregnancy outcomes were extracted from medical records regarding prenatal diagnosis of CHD. The inclusion criteria were as follows: pregnant women or their husbands who had a household registration in Qingdao and who underwent regular prenatal screening in Qingdao. The exclusion criterion was the failure to sign an informed consent form. Counseling for all parents of fetuses with CHD was provided by a multidisciplinary team of experienced pediatric cardiologists, obstetricians, geneticists, etc. According to the type and severity of CHD, the pregnancy termination rate was analyzed. Among the 126,843 pregnant women, 1299 fetuses with a prenatal diagnosis of CHD were included in the study. Among the included fetuses, 1075 were diagnosed with isolated CHD, and the overall pregnancy termination rate was 22.8%. Termination rates varied according to the complexity of CHD (low complexity vs moderate complexity, P=0.000; low complexity vs high complexity, P=0.000; moderate complexity vs high complexity, P=0.000), with rates of 6.0% for low complexity, 54.2% for moderate complexity, and 99.1% for high complexity. The decision to terminate the pregnancy in cases of isolated CHD was unrelated to maternal age (P=0.091) but was related to gestational age (p=0.000). In Qingdao, 99.1% of parents whose fetuses were diagnosed with isolated high-complexity CHD chose to voluntarily terminate the pregnancy. The pregnancy termination rate increased with increasing complexity of prenatally diagnosed CHD.

The new face of cystic fibrosis in the era of population genetic carrier screening

BackgroundPopulation genetic carrier screening (PGCS) for cystic fibrosis (CF) has been offered to couples in Israel since 1999 and was included in a fully subsidized national program in 2008. We evaluated the impact of PGCS on CF incidence, genetic and clinical features. MethodsThis was a retrospective national study. Demographic and clinical characteristics of children with CF born in Israel between 2008 and 2018 were obtained from the national CF registry and from patients' medical records. Data on CF births, preimplantation genetic testing (PGT), pregnancy termination and de-identified data from the PGCS program were collected. ResultsCF births per 100,000 live births decreased from 8.29 in 2008 to 0.54 in 2018 (IRR = 0.84, p < 0.001). The CF pregnancy termination rate did not change (IRR = 1, p= 0.9) while the CF-related PGT rate increased markedly (IRR = 1.33, p < 0.001). One hundred and two children were born with CF between 2008 and 2018 with a median age at diagnosis of 4.8 months, range 0–111 months. Unlike the generally high uptake nationally, 65/102 had not performed PGCS. Even if all had utilized PGCS, only 51 would have been detected by the existing genetic screening panel. Clinically, 34 % of children were pancreatic sufficient compared to 23 % before 2008 (p = 0.04). ConclusionsSince institution of a nationwide PGCS program, the birth of children with CF decreased markedly. Residual function variants and pancreatic sufficiency were more common. A broader genetic screening panel and increased PGCS utilization may further decrease the birth of children with CF.

Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy

Introduction: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program. Materials and Methods: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation. Results: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p < 0.05). Median gestational age at detection was 19 + 6 (interquartile range [IQR] 15 + 4 – 20 + 5) in group 1 versus 20 + 3 (IQR: 20 + 0 – 21 + 1) in group 2 (p < 0.001). In group 1, 22% were diagnosed before 18 weeks of gestation. Termination of pregnancy rate in group 1 and group 2 were 48% and 27%, respectively (p < 0.01). Median gestational age at termination did not differ between the two groups. Conclusion: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.

Advanced maternal age: copy number variations and pregnancy outcomes.

Objective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes in women with AMA. The purpose of this study was to assess CNVs associated with AMA in prenatal diagnosis to determine the characteristics of pathogenic CNVs and assist with genetic counseling of women with AMA. Methods: Among 277 fetuses of women with AMA, 218 (78.7%) were isolated AMA fetuses and 59 (21.3%) were non-isolated AMA fetuses and showed ultrasound anomalies from January 2021 to October 2022. Isolated AMA was defined as AMA cases without sonographic abnormalities. Non-isolated AMA was defined as AMA cases with sonographic abnormalities such as sonographic soft markers, widening of the lateral ventricles, or extracardiac structural anomalies. The amniotic fluid cells underwent routine karyotyping followed by single nucleotide polymorphism array (SNP-array) analysis. Results: Of the 277 AMA cases, karyotype analysis identified 20 chromosomal abnormalities. As well as 12 cases of chromosomal abnormalities corresponded to routine karyotyping, the SNP array identified an additional 14 cases of CNVs with normal karyotyping results. There were five pathogenetic CNVs, seven variations of uncertain clinical significance (VOUS), and two benign CNVs. The detection rate of abnormal CNVs in non-isolated AMA cases was increasing (13/59; 22%) than in isolated AMA cases (13/218; 5.96%) (p < 0.001). We also determined that pathogenic CNVs affected the rate of pregnancy termination in women with AMA. Conclusion: Aneuploid abnormalities and pathogenic CNVs affect pregnancy outcomes in women with AMA. SNP array had a higher detection rate of genetic variation than did karyotyping and is an important supplement to karyotype analysis, which enables better informed clinical consultation and clinical decision-making.

Clinical characteristics of cardiac defects fetuses and the impact of multi-disciplinary team cooperation approach on the pregnancy decision making

Objective: To analysis the clinical characteristics of 400 fetuses with heart defects and the impactors of pregnancy decision making, and explore the influence of a multi-disciplinary team (MDT) cooperation approach on it. Methods: Clinical data of 400 fetuses with abnormal cardiac structure diagnosed at Peking University First Hospital from January 2012 to June 2021 were collected, which were divided into 4 groups according to the characteristics of fetal heart defects and the presence of extracardiac abnormalities or not: single cardiac defects without extracardiac abnormalities (122 cases), multiple cardiac defects without extracardiac abnormalities (100 cases), single cardiac defects with extracardiac abnormalities (115 cases), and multiple cardiac defects with extracardiac abnormalities (63 cases). The types of fetal cardiac structural abnormalities and genetic test results, and the detection rate of pathogenic genetic abnormalities, MDT consultation and management situation, and pregnancy decision of fetuses in each group were retrospectively analyzed. A logistics regression was used to analyze the influencing factors of fetal heart defects pregnancy decision. Results: (1) Among the 400 fetal heart defects, the four most common major types were ventricular septal defect 96 (24.0%, 96/400), tetralogy of Fallot 52 (13.0%, 52/400), coarctation of the aorta 34 (8.5%, 34/400), and atrioventricular septal defect 26 (6.5%, 26/400). (2) Among the 204 fetuses undergoing genetic examination, 44 (21.6%, 44/204) pathogenic genetic abnormalities were detected. (3) Detection rate of pathogenic genetic abnormalities (39.3%, 24/61) and pregnancy termination rate (86.1%, 99/115) in the single cardiac defects with extracardiac abnormalities group were significantly higher than those in the single cardiac defects without extracardiac abnormalities group [15.1% (8/53), 44.3% (54/122), respectively] and the multiple cardiac defects without extracardiac abnormalities group [6.1% (3/49), 70.0% (70/100), respectively, both P<0.05], and the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group and the multiple cardiac defects with extracardiac abnormalities group (82.5%,52/63) were significantly higher than that of the single cardiac abnormalities without extracardiac abnormalities group (both P<0.05). (4) After adjusting for age, gravity, parity and performed prenatal diagnosis, maternal age, the diagnosis of gestational age, prognosis grades, co-existence of extracardiac abnormalities, presence of pathogenic genetic abnormalities, and receiving MDT consultation and management were still independent influencing factors of termination of pregnancy of fetuses with cardiac defects (all P<0.05). A total of 29 (7.2%, 29/400) fetal cardiac defects received MDT consultation and management, and compared with those without MDT management, the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group [74.2%(66/89) vs 4/11] and the multiple cardiac defects with extracardiac abnormalities group [87.9%(51/58) vs 1/5] were lower, the differences were statistically significant respectively (all P<0.05). Conclusions: Maternal age, diagnosed gestational age, severity of cardiac defects, extracardiac abnormalities, pathogenic genetic abnormalities and MDT counseling and management are the influencing factors of fetal heart defects pregnancy decision. MDT cooperation approach influences pregnancy decision-making and should be recommended for the management of fetal cardiac defect to reduce unnecessary termination of pregnancy and improve pregnancy outcomes.

Perinatal outcomes of intrauterine fetal arrhythmias: A 10-year retrospective cohort study.

Sustained fetal arrhythmia can produce life-threatening fetal distress, fetal hemodynamic compromise, hydrops fetalis, or even fetal death. Survivors may subsequently possess severe neurologic deficits. We conducted a retrospective observational study of pregnant women hospitalized with fetal arrhythmias from January 2011 to May 2020 at West China Second University Hospital, and fetal arrhythmias were diagnosed by specialists in cardiac ultrasonography. Of 90 cases of fetal arrhythmias, 14 (15.6%) were complicated by fetal congenital heart disease (CHD), 21 (23.33%) by fetal-hydrops, 15 (16.67%) cases by intrauterine therapy, and 6 (6.67%) by maternal auto-immune disease. In the fetal-hydrops group, the intrauterine therapy rate was significantly higher (47.62% vs 7.24%, P < .001) and the survival rate significantly lower (47.62% vs 92.75%, P < .001) than in the nonfetal hydrops group. A fetus whose arrhythmia was complicated by fetal-hydrops and CHD was delivered earlier and exhibited a lower cardiovascular profile score at diagnosis and birth, lower birth weight, and a higher rate of pregnancy termination than cases without hydrops and CHD (P < .05). Among the cases with maternal auto-immune disease, 71.43% (5/7) manifested fetal atrioventricular block. Multiple linear regression analysis revealed that 3 variables - fetal-hydrops (P < .001), body mass index (P = .014), and gestational age at diagnosis of fetal arrhythmia (P = .047) - were correlated with the gestational delivery age of arrhythmic fetuses. Parents should be counseled by the multidisciplinary team regarding the individualized management and prognosis of the arrhythmic fetus, and individualized fetal intrauterine therapy should be performed if necessary.

Neonatal and long-term outcomes of infants with congenital cytomegalovirus infection and negative amniocentesis: systematic review and meta-analysis.

Cytomegalovirus (CMV) DNA is detectable in the amniotic fluid collected by amniocentesis in cases in which the fetus has been infected. However, cases of congenital neonatal CMV infection with a negative amniocentesis result have also been reported in the literature. The aim of the present study was to compare pregnancies with a negative amniocentesis result to those with a positive amniocentesis result in terms of incidence of fetal insult and long-term sequelae. Observational studies that included pregnant women with CMV infection who underwent amniocentesis and that reported their results together with neonatal and/or long-term outcomes of the offspring were included. The risk of bias in included studies was assessed using the Newcastle-Ottawa Scale. The rate of severe symptoms at birth, defined as neurological symptoms or multiorgan involvement at birth, and the rate of severe sensorineural hearing loss (SNHL) and/or neurodevelopmental impairment at follow-up were the main outcomes of the study. The secondary outcome was the rate of pregnancy termination due to the presence of CMV-associated central nervous system (CNS) findings or multiorgan involvement on ultrasound/magnetic resonance imaging (MRI). Seven studies were included in the systematic review and meta-analysis. The pooled false-negative rate of amniocentesis was 8.0% (95% CI, 5.0-13.0%). The pooled rate of severe symptoms at birth was 0.0% (95% CI, 0.0-1.0%; I2 = 0%) in fetuses with a negative amniocentesis result and 22.0% (95% CI, 11.0-38.0%; I2 = 75%) in those with a positive amniocentesis result. The pooled odds ratio (OR) was 0.03 (95% CI, 0.01-0.10; I2 = 0%). The pooled rate of severe SNHL and/or neurodevelopmental impairment at follow-up in fetuses with a negative amniocentesis result was 0.0% (95% CI, 0.0-1.0%; I2 = 0%) and, in those with a positive amniocentesis result, it was 14.0% (95% CI, 7.0-26.0%; I2 = 64%). The pooled OR was 0.04 (95% CI, 0.01-0.14; I2 = 0%). The pooled rate of pregnancy termination due to the presence of CMV-associated CNS findings or multiorgan involvement on ultrasound/MRI was 0.0% (95% CI, 0.0-2.0%; I2 = 0%) in fetuses with a negative amniocentesis result and 20.0% (95% CI, 10.0-36.0%; I2 = 82%) in those with a positive amniocentesis result. The pooled OR was 0.03 (95% CI, 0.01-0.08; I2 = 0%). A subgroup analysis including only pregnancies with primary CMV infection and a sensitivity analysis including only prospective studies were carried out, showing very similar results to those of the main analysis. A negative amniocentesis result in pregnant women with CMV infection ensures lack of fetal insult and long-term sequelae to the child, even if transmission has occurred. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China.

To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women with a singleton pregnancy were recruited for NIPT-Plus. Screening positive results were verified by karyotype analysis and chromosomal microarray analysis after amniocentesis. A total of 264 pregnancies (1.14%) were positive results as predicted by NIPT-Plus, including 233 aneuploidies and 31 copy number variations. Following genetic counseling, 233 (88.26%) pregnant women underwent invasive prenatal diagnosis and 136 were verified as true positives, comprising 72 common trisomies (T21, T18, T13), 47 sex chromosomal abnormalities two rare autosomal aneuploidies (RATs) and 15 copy number variations The positive predictive value for common trisomies, SCAs, RATs and CNVs were 68.57%, 68.12%, 6.67% and 51.72%, respectively. Pregnant women with screen-positive results for common trisomies have higher rates of invasive prenatal diagnosis and pregnancy termination than those with positive results for SCAs, RATs, and CNVs. NIPT-Plus showed a good performance in detecting common trisomies, SCAs and also contributed to detecting pathogenic CNVs, but higher accuracy was required in the detection of RATs. In summary, this study provides a reference for the clinical application of NIPT-Plus for screening fetal chromosomal abnormalities in this region. Therefore, we suggest that NIPT-Plus could be widely used in clinical screening for fetal chromosomal abnormalities in combination with prenatal diagnosis and genetic counseling.

Antenatal Screening and Diagnosis of ß-thalassemia in High-Risk Population of Sardinia

Sardinia, an Italian island in the Mediterranean sea with a population of 1,7 millions, has one of the highest incidence of β-thalassemia with 10-12% of carriers. Since 1977 we have been offering a capillary screening program and prenatal diagnosis to couples following non-directive genetic counselling. Thanks to the implementation of new molecular analysis methods, we shifted from prenatal diagnosis performed in 2nd trimester of pregnancy to 1st trimester. In order to avoid termination of pregnancy in case of affected fetuses following prenatal diagnosis we introduced preimplantation genetic testing, thus increasing notably the acceptance rate of antenatal screening and diagnosis by couples at high risk. In this paper, we report the continuous experience of our prenatal centre in Sardinia in 9,324 antenatal diagnoses of β-thalassemia, the accuracy and safety related to the prenatal procedures we employed, the termination of pregnancy rate and the couples’ acceptance of the different approaches as well as analyze the screening programs available to the Sardinian population. Molecular screening by Polymerase Chain Reaction (PCR) based methods, prenatal diagnosis by Chorionic Villous Sampling (CVS) with very low fetal loss rate (0,3%) and Preimplantation Genetic Diagnosis (PGD) were the most common techniques applied in our prenatal centre and they have brought to a drastical reduction of newborns affected by β-thalassemia to only 3-5 per year.

The Efficacy of a 3β-Hydroxysteroid Dehydrogenase Inhibitor for the Termination of Mid-Term Pregnancies in Dogs.

Progesterone (P4) is the only hormone needed to maintain pregnancy in dogs. Therefore, a competitive inhibitor of 3β-hydroxysteroid dehydrogenase (3β-HSD) could be a safe and effective option to terminate pregnancy by inhibiting P4 synthesis. To address this hypothesis, we investigated the efficacy of trilostane (TRL), a competitive inhibitor of 3β-HSD, in terminating pregnancy in dogs. Twenty-one dogs between days 30 and 38 of pregnancy were randomly assigned to one of two treatment groups (trilostane (TRL) and aglepristone (AGL)) and an untreated control (CON) group (n = 7 dogs each). Fetal heart rates (FHRs) (measured at 12 h intervals) and serum P4 concentrations (measured at 6 h intervals) were evaluated. The pregnancy termination rates were 0% and 100% in the TRL and AGL groups, respectively. The decrease in the FHR in the TRL and AGL groups was significantly lower than that observed in the CON group. There was a marked decrease in P4 concentrations in the TRL group 6, 54, and 102 h after the initiation of treatment. The luteal expression of StAR appeared to be weaker in the AGL group than the CON group. In conclusion, although a treatment-induced decrease was observed in plasma P4 concentrations, a seven-day TRL treatment alone was not effective in terminating pregnancies. Further studies are needed on the effects of the prolonged administration of TRL with varying doses and frequencies for the termination of mid-term pregnancy in dogs.

P-140 A retrospective study on combination of vitrification/warming protocols from different manufacturers

Abstract Study question What is the embryo survival rate when combining freezing and warming media from different manufacturers. Summary answer Vitrification protocol with DMSO in freezing medium and 4-step warming at room temperature resulted in highest implantation and high embryo survival rates. What is known already Cryopreservation media containing 7,5% and 15% DMSO in a two-steps protocol are widely used for vitrification of human embryos. Studies with the data on safety, survival rates, cellular structures integrity and the warmed embryo's implantation potential confirm efficiency of DMSO as cryoprotectant. However, questions remain on whether DMSO have any negative impact, thus interest to DC. Likewise with the choice of cryoprotectant, more data is needed to determine which temperature corresponds to better survival rates. Study design, size, duration This retrospective cohort study covered the period from January 2019 till November 2021. A total of 834 consecutive cycles of frozen/warmed embryo transfers were included in the study. Inclusion criteria were: women's age below 40 years, cryopreservation on the day 5 of embryo culture. Exclusion criteria were: donor oocyte cycles, cycles with pre-implantation genetic testing for aneuploidies and cycles with severe male factor after surgical sperm retrieval. Participants/materials, setting, methods Following groups were compared using Rapid-i carrier device: 1 - Kitazato vitrification/warming protocol, 2 - Kitazato vitrification and Vitrolife's Omni warming, 3 - Vitrolife's Omni vitrification/warming, 4 - Vitrolife's Omni vitrification and Kitazato warming, 5 - Kitazato vitrification/Vitrolife's Omni warming media used in accordance with Kitazato protocol (ambient temperature, Reproplate dish). Efficiency was evaluated comparing embryo survival, implantation, clinical pregnancy and early pregnancy termination rates. Mann-Whitney and Pearson's Chi-square tests were used for statistical analysis. Main results and the role of chance The average patient age in assigned groups was: group 1: 32,5±3,6 years (n = 569); 2:32,2±3,5 years (n = 47); 3:30,4±3,5 years (n = 15); 4:32,3±3,5 years (n = 74); 5:32,7±3,4 years (n = 129). Average number of transferred embryos: 1,3±0,5; 1,2±0,4; 1,1±0,3; 1,3±0,4 and 1,2±0,4 per group, respectively. Embryo survival rates were: 97%, 96%, 100%, 97% and 100% in each group, respectively. Group 5 was significantly different from other groups (p &amp;lt; 0,05; group 3 had too small sample size for an adequate comparison). Implantation rates per group: 43%, 57%, 44%, 40% and 49%, respectively (p &amp;gt; 0,05). Clinical pregnancy rates were not different between groups. The early pregnancy termination rates were: 18,1%, 20,7%, 33,3%, 14,7% and 8,9% per group, respectively (p &amp;gt; 0,05). Therefore, group 2 resulted in a best clinical outcomes. Limitations, reasons for caution The present study is a retrospective cohort study and it has a limited number of patients in compared groups. Additionally, live births and health of newborn children was not taken into account. Wider implications of the findings Freezing medium from one manufacturer can be combined with warming medium from another manufacturer and result in a good clinical outcome. Furthermore, this study sheds the light that there is still a room for the improvement of existing cryopreservation media and protocols. Trial registration number not applicable