1）Effect of different dose of medroxyprogesterone acetate per day on pregnancy outcome: a retrospective cohort study
Hai-long Li 1, 2, 3 †, Bei-bei Shen 1, 2, 3 †, Zheng-liang He 5, Hai-li Wang 6, Zhi-feng Sun 1, 2, 3,4, *
（1 Reproductive Medicine Center, Renmin Hospital, Hubei University of Medicine, Shiyan 442000, Hubei Province, P.R. China；2 Hubei Key Laboratory of Embryonic Stem Cell Research, Shiyan 442000, China；3 Hubei clinical research center for reproductive medicine, Shiyan 442000, Hubei Province, P.R. China；4 Biomedical Engineering College, Hubei University of Medicine, Shiyan 442000, China；5 The Third Medical School, Hubei University of Medicine, Shiyan, China；6 The Fifth Medical School, Hubei University of Medicine, Shiyan, China）
【Abstract】
Object To investigate the clinical outcome of progestin-primed ovarian stimulation (PPOS) with letrozole using different dose of medroxyprogesterone acetate (MPA) per day in infertile women.
Method This retrospective cohort study included 710 patients who underwent in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) cycles and received the PPOS protocol with letrozole at the Center of Reproductive Medicine, Renmin Hospital of Shiyan. The study population was divided into low, medium, and high concentration groups based on the daily dosage of MPA. The primary outcome was the cumulative live birth rate (cLBR). The secondary outcomes included fetal malformation rate, incidence of a premature surge in luteinizing hormone (LH), number of oocytes retrieved, viable embryos, high quality embryos, clinical pregnancy rate, abortion rate, ectopic pregnancy rate, multiple pregnancy rate.
Result In this study, we found that BMI, baseline level of Anti-Müllerian hormone (AMH), baseline level of luteinizing hormone, antral follicle counting (AFC), the total amount of dose of gonadotropin (Gn), the days of Gn duration was significantly different in three groups (p<0.05). The number of oocytes and viable embryos were significantly higher in medium group and higher than those in the low dose group. And there were no malformed fetal births among the three groups. Following adjustments for confounding factors related to MPA for various outcome measures, we conducted multiple regression analysis to investigate the independent effects of daily MPA dosage within the combined PPOS and letrozole protocol. After multivariable regression analysis, there were no differences in embryo characteristics (number of oocytes retrieved, number of available embryos, number of high-quality embryos) and pregnancy outcomes (clinical pregnancy rate, cumulative live birth rate) among the three groups.
Conclusion PPOS with letrozole using different dose of medroxyprogesterone acetate (MPA) per day does not affect malformed fetal births and was comparable in terms of the number of oocytes retrieved, the number of high-quality embryos, clinical pregnancy rate and cLBR after FET.
【Key words】MPA；Letrozole；PPOS；cLBR
2）MYO1D Gene Mutation as a Potential Cause of Human Heterotaxy Syndrome: Insights from Zebrafish Model
Yuan Chen1, Yeqing Qian2, Xinxin Fu3, 4, Pengfei Xuc3, 5, *, Qiong Luo1, *
（1 Department of Obstetrics, Women’s Hospital, Zhejiang University School of Medicine，Hangzhou 310006, China；2 Department of Reproductive Genetics, Women’s Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China；3 Women's Hospital and Institute of Genetics, Zhejiang University School of Medicine, Hangzhou 310058, China；4 School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou 310058, China；5 Center for Genetic Medicine, the Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, Yiwu 322000, China）
【Abstract】
Heterotaxy syndrome (HTX) is a serious type of congenital laterality defects complicated with cardiovascular defects and situs abnormalities. The genetic background of HTX is heterogeneous and not fully revealed. We sequenced multiple DNA from fetuses with HTX using a self-designed targeted gene panel. We found one fetus carrying a mutation in the MYO1D gene (c.2419G>A, p.Val807Met) which had not been documented the association with human HTX in the OMIM database, and the mode of inheritance for this gene had not been previously reported. We employed whole-mount in situ hybridization (WISH) in zebrafish model to investigate the potential functional impact of the c.2419G>A (p.Val807Met) mutation in the MYO1D gene and its contribution to HTX. We found that the overexpression of the mutant MYO1D mRNA resulted in abnormal expression of southpaw, a marker for left-right (LR) asymmetry in zebrafish. Moreover, the mutant human MYO1D mRNA further exacerbated the LR asymmetry defect in zebrafish myo1d knockdown embryos. Conversely, this defect could be partially rescued by introducing the human wildtype MYO1D mRNA. These findings suggest that the c.2419G>A (p.Val807Met) mutation in MYO1D gene may disrupt normal LR asymmetry development and potentially contribute to the development of HTX in humans.
【Key words】Targeted gene panel; MYO1D; Zebrafish; Heterotaxy syndrome; Left-right asymmetry
3）Optical genome mapping for prenatal diagnosis of fetal structural anomalies
许伊云 张沁欣 周冉 孟露露 罗春玉 季修庆 刘安 曾华沙 王艳# 胡平# 许争峰#
（南京医科大学附属妇产医院/南京市妇幼保健院,江苏 南京 210004）
【Abstract】
Objective Optical genome mapping (OGM) is a powerful tool for structural variation detection. This study aimed to determine the utility of OGM in prenatal diagnosis of fetal structural anomalies.
Methods Totally, 150 cases of fetal structural anomalies were investigated prospectively performing OGM in parallel with chromosomal microarray analysis (CMA) and karyotyping. Clinically relevant structural variations identified by OGM but undetectable by karyotyping and CMA were validated by long-rang PCR plus Sanger sequencing.
Results Overall, clinically relevant chromosome aberrations were identified in 24 (16.0%) cases using OGM, including one with triploidy, nine with aneuploidies, 11 with pathogenic or likely pathogenic copy number variations, two with translocations and one with aneuploidy co-exist with translocations. In comparison, OGM not only detected all the chromosome aberrations identified by CMA or karyotyping, but also provided additional detection of one (1/150, 0.7%) case of cryptic balanced translocation. Furthermore, OGM provided the breakpoint information for three duplications and revealed one tandem direct duplication, one inverted duplication and one paired duplication flanking a cryptic inversion.
Conclusions Our study suggests that OGM is a reliable, comprehensive and high-resolution technology with an acceptable turnaround time that has the potential to be the first-tier test for prenatal diagnosis of fetal structural anomalies.
【Key words】optical genome mapping; fetal structural anomalies; prenatal diagnosis; structural variations
4）Prenatal diagnosis of fetal biliary tract system abnormalities: genetic testing, imaging characteristics and pregnancy outcomes
Shujuan Yan, Fang Fu, Hang Zhou, Ruibin Huang, Chunling Ma, Fei Guo, Huanyi Chen, Jianqin Lu, Liyuan Liu, Ru Li*, Can Liao*
（Department of Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China）
【Abstract】
Objective To report on a large cohort of fetuses with biliary tract system abnormalities and to analyze genetic test results, prenatal ultrasound and MRI characteristics, and postnatal follow-up outcomes that can optimize prenatal diagnosis.
Method This was a retrospective multicenter study of fetuses diagnosed with biliary tract system abnormalities (BTS) between January 2014 and January 2023. Cases were categorized into two groups: isolated BTS and non-isolated BTS. We collected and reviewed documents on maternal demographics, imaging characteristics, chromosome microarray analysis/exome sequencing results and pregnancy outcomes.
Results Among 144 fetuses included in this cohort, non-visualization of the fetal gallbladder (n = 47 (32.6%)) and choledochal cyst (n = 59 (41.0%)) were the main reasons for referral.
CMA identified chromosomal abnormalities in 8.3% (12/144) of the fetuses and yielded a diagnostic of 15.4% (2/13) in 13 families that opted for trio-ES testing. The detection rate of chromosomal abnormalities was significantly higher in fetuses with non-isolated BTS anomalies compared to those with isolated BTS anomalies (11/50, 22% vs. 3/94, 3.2%, p < 0.001). Follow-up data were available for 137 fetuses, comprising 27 cases of termination of pregnancies (TOPs) (27/144, 18.8%), 109 live births (109/144, 75.7%), one case (0.7%) of intrauterine fetal demise (IUFD) and one case (0.7%) of neonatal demise. In the small gallbladder group (6.3%, 9/144), no chromosomal abnormalities were found, and all infants were healthy after birth. Biliary atresia (BA) did not occur in fetuses with persistent non-visualization of the gallbladder (51.1%, 24/47). However, five cases (8.5%, 5/59) were diagnosed with BA in the choledochal cyst (CC) group after birth, whose prenatal ultrasound and MRI examinations suggested that the cyst diameters were all ≤ 2 cm and did not increase with gestational age.
Conclusion In cases where additional ultrasonographic abnormalities accompany BTS abnormalities, performing sequential CMA and trio-ES testing is considered feasible. Prenatal detection of a CC poses limitations for ultrasonography in the differential diagnosis of congenital BA.
5）Prenatal exome sequencing in fetuses with macrocephaly: a large prospective study
周航，黄锐斌，符芳，严树涓，卢剑勤，郭斐，陈焕怡，张永玲，黎福成， 李茹，廖灿
（广州医科大学附属妇女儿童医疗中心 产前诊断中心，广东 广州 510630)
【Abstract】
Background Macrocephaly in children is associated with intellectual disabilities, autism, and psychomotor developmental delays. Recent studies indicates that Mendelian monogenic conditions play an important role in pediatric macrocephaly. However, the significance of these factors in fetal macrocephaly remains unclear.
Objectives This study aimed to estimate comprehensively genetic diagnoses and elucidate the genetic profiles in macrocephalic fetuses. Furthermore, the subgroup analyses were performed to seek risk factors of monogenic disorders for fetal macrocephaly.
Study Design This was a prospective study conducted January 2021 to September 2023, which included singleton pregnancies diagnosed with macrocephaly by ultrasound, defined as fetal head circumference ≥ 2 standard deviations (SD). Gestational age was determined using crown-rump length from first-trimester ultrasound and the date of the last menstrual period. Cases that tested negative for both chromosomal microarray analysis (CMA) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) targeting Beckwith-Wiedemann syndrome (BWS) imprinting genes, and with available exome sequencing (ES) results, were included in the study. The yield of ES was assessed by analyzing subgroups based on head circumference Z-score (< +3SD vs. ≥ +3SD), presence of associated micromelia, and cases accompanied by fetal macrosomia (LGA), as well as head circumference to abdominal circumference (HC/AC) ratio, femur length to head circumference (FL/HC) ratio, and normalization of head circumference. Comparisons between categorical data were performed using chi-square test or Fisher’s exact test. Receiver Operating Characteristic (ROC) curve analysis was employed to determine the optimal cut-off values for the HC/AC and FL/HC ratios in predicting the presence of monogenic disorders in fetuses with macrocephaly.
Results Molecular diagnoses were established in 34 out of 87 macrocephalic fetuses (39.1%) through trio ES, with all diagnoses following an autosomal dominant pattern and 88.2% being de novo mutations. The detection rate was significantly higher in non-isolated macrocephaly cases compared to isolated ones (65.0% vs. 17.0%; P<0.001). Ventriculomegaly (60.0%), micromelia (100.0%) and megalencephaly (100.0%) were most commonly associated with a genetic diagnosis. In subgroup analysis, higher diagnostic yields persisted in those with macrocephaly diagnosed < 32 gestational weeks, those with HC Z-score ≥ +3SD, those with micromelia and those without LGA, and with non-normalized HC. We identified optimal cutoff values using ROC analysis, revealing higher detection rates in fetuses with a HC/AC ratio ≥ 1.14 and a FL/HC ratio < 0.18.
Conclusion This study represents the extensive and comprehensive genetic diagnosis cohort for fetuses with macrocephaly, demonstrating that ES can significantly enhance the molecular diagnosis of monogenic disorders in macrocephalic fetuses with negative CMA and MS-MLPA results, and revealing several risk factors of monogenic disorders in macrocephalic fetuses. These findings may enhance the understanding of the genetics of fetal macrocephaly and assist obstetricians and genetic counselors in prenatal counseling.
6）Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia
黄锐斌，符芳，梅珊珊，刘丽媛，韩瑾，甄理，潘敏，黎璐珊，喻秋霞，严树涓，周航，卢剑勤，张娜，马纯玲，郭斐，陈焕怡，赵馨怡，谭欣月，张永玲，景象一，黎福成，李东至，李茹，廖灿
（广州医科大学附属妇女儿童医疗中心 产前诊断中心，广东 广州 510630）
【Abstract】
Objective To define the genetic burden of fetal congenital diaphragmatic hernia (CDH) and assess neonatal outcome and prognosis using prenatal, perinatal, and postnatal predictors.
Methods This was a prospective cohort study conducted from January 2016 to December 2023 at the Prenatal Diagnostic Center of Guangzhou Women and Children's Medical Center, Guangzhou Medical University. Participants included 130 fetuses diagnosed with CDH by imaging. Data collected encompassed maternal demographic data, ultrasound and magnetic resonance imaging results, chromosomal microarray analysis (CMA) and exome sequencing (ES) results, pregnancy outcomes, and neonatal prognosis.
Results CMA and ES detection rates were 7.7% (10/130) and 8.7% (4/46), respectively. No statistical difference was observed in CMA detection rates between isolated and non-isolated CDH groups, but ES detection rates showed a significant difference (5.6%, 6/108 vs. 18.2%, 4/22, p = 0.113; 0%, 0/35 vs. 36.4%, 4/11, p = 0.0018). Post-counseling, 66.2% (86 cases) of pregnancies were continued, with 46 cases having a good prognosis and 40 cases having a poor prognosis. Correlation analysis revealed that for LCDH fetuses, stomach or spleen herniation significantly increased preterm birth risk, while liver herniation significantly increased the risk of ECMO requirement and poor prognosis in male fetuses. Diagnostic gestational age, o/e LHR, liver herniation, and PPLV were significantly correlated with ECMO requirement, while diagnostic gestational age, o/e LHR, liver herniation, stomach herniation, and PPLV were significantly correlated with prognosis, with o/e LHR showing the strongest correlations (r = 0.478, p < 0.001; r = 0.695, p < 0.001). ROC curve areas for the predictive models were 0.858 and 0.926.
Conclusion This study integrated genetic testing, imaging parameters, and clinical information from 130 CDH fetuses, highlighting the critical role of genetic testing and imaging results in pregnancy decision-making and prognosis assessment. The study recommends multidisciplinary teamwork for perinatal management, involving high-risk obstetrics, prenatal diagnosis, imaging, pediatric surgery, and neonatal intensive care teams, to evaluate and manage the prognosis of CDH fetuses.
7）Prenatal diagnosis and outcomes in fetuses with hydronephrosis: A single-center retrospective study from China
Chunling Ma, Can Liao
（The First School of Clinical Medicine, Southern Medical University）
【Abstract】
Objective Fetal hydronephrosis refers to abnormal dilation of the renal pelvis and/or calyces and occurs in about 1-5% of pregnancies. At present, studies mainly focus on the relationship between prenatal hydronephrosis and aneuploidy. In the study by Farladansky-Gershnabel, S, there was no significant association between prenatal UTD A1 isolated hydronephrosis and chromosomal or genetic disease. There are no studies assessing the genetic burden of hydronephrosis fetuses with a UTD rating of A2-3 and no relevant Research on the combined application of CMA and WES in Fetal hydronephrosis.
Methods This retrospective cohort study included fetuses with an ultrasound diagnosis of hydronephrosis and an invasive prenatal diagnosis between September 2012 and December 2023 In Guangzhou Women and Children’s Medical Center. We reviewed patient clinical characteristics, genetic test results, and pregnancy outcomes.
Results Of the 382 cases included in the study criteria, the CMA detected 32 clinically significant variants and 56 variants of uncertain significance (VUS). Further WES testing was performed for 102 pregnancies with negative CMA results, and WES detected 11 P/LP single-gene variants and 7 VUS single-gene variants. There was a significant difference in the CMA detection rate between isolated group and non-isolated group (8/255,3.20%：24/127,19.67% P＜0.001). There was no significant difference in WES detection rate between isolated group and non-isolated group (6/61,9.84%:5/41,12.20% P=0.706). There was no significant difference in the CMA detection rate between UTD A1 group and UTD A2-3 group, nor between the second trimester and the third trimester, nor between unilateral and bilateral groups. Through genetic testing, there was a statistically significant difference in the pregnancy termination rates between those with clinically significant variation and those negative (32/43,74.42% vs. 35/299,11.71%, p<0.001).
Conclusion This study elucidates the value of CMA and WES in fetal hydronephrosis. Our study suggests that sequential CMA and WES testing is recommended for non-isolated hydronephrosis or isolated hydronephrosis with UTD A2-3.
8）Analysis of Genetic Etiology and Pregnancy Outcome of Hydatidiform Mole with Coexisting Fetus
胡柳琴1，陈结云1，曹定娅1，陈敏1，陈艳红2，彭娟3，黎青4，陈敦金1，李志华1#
（1 Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China；2 Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China；3 Department of Clinical pathology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China；4 Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.）
【Abstract】
Objective To evaluate and contrast the genetic etiology and pregnancy outcome of Complete Hydatidiform Mole with Co-existing Fetus ( CHMCF ) and Partial Hydatidiform Mole with Co-existing Fetus ( PHMCF ).
Materials and methods Using a retrospective method based on patients from the Third Affiliated Hospital of Guangzhou Medical University from January 2014 to June 2023, 15 patients were histologically confirmed as having HMCF.At the same time, 42 cases of CHMCF retrieved from the CNKI, Wanfang, VIP, and Pubmed databases from 2000 to 2023 were retrospectively analyzed. A total of 57 HMCF cases were included for analysis.
Result Among these 57 cases, 49 (86%) were CHMCF, and 8 (14.04%) were PHMCF. The gestational age at diagnosis of CHMCF was significantly earlier than that of PHMCF [14 (10–24) vs. 21 (15–24) weeks, respectively, P < 0.05]. The median value of HCG in the CHMCF group was higher than that in the PHMCF group [245000 mIU/mml vs. 418979 mIU/mml, respectively, P < 0.05]. The live birth rate of CHMCF was higher than that of PHMCF (48.98%; 12.50%)), but the difference was not statistically significant. The serum hCG peak ≥ 418979 mIU/ ml, vaginal bleeding, and hypertensive disorder complicating pregnancy all had certain predictive values for fetal adverse outcomes, and the combined predictive factor had the highest predictive value, with an area under the curve of 0.865 (95%% CI 0.774 ~ 0.956).
The overall rate of GTN incidence of HMCF was 33.33%(19/57), and the GTN rates of CHMCF and PHMCF were 34.69% (17/49) and 25% (2/8), respectively. There was no significant difference in the GTN rate between patients who chose to continue pregnancy and those who terminated pregnancy before 24 weeks of gestation. The GTN rate of patients with term delivery was not significantly higher than that of preterm delivery.
Conclusion Hydatidiform mole with a coexisting fetus is less common than singleton hydatidiform mole, and it is frequently associated with more serious pregnancy complications, yet a normal fetus may exist. CHMCF is more prevalent than PHMCF, with a larger prevalence of pGTN and more evident prenatal complications; however, the former has a higher live birth rate. There is no substantial difference in the likelihood of developing pGTN whether the pregnancy is continued or terminated. It is reasonable to continue with pregnancy if there are no obvious complications and extensive prenatal examinations have been performed. In such instances, a live birth is expected. However, in cases where there is concomitant vaginal hemorrhage, a hypertensive condition impacting pregnancy, and serum hCG peak values surpassing 418979 mIU/ml, it indicates adverse fetal outcomes in HMCF. Nevertheless, there is no scientific foundation for forecasting pGTN.
【Key words】Complete hydatidiform mole with co-existing fetus(CHMCF) ; Partial hydatidiform mole with co-existing fetus(PHMCF) ; Gestational trophoblastic neoplasia(GTN) ; Genetics; Pregnancy outcome.
9）Prenatal Diagnosis and Perinatal Outcomes in Fetuses of Duodenal Obstruction
Jianqin Lu1; Fang Fu1; Hang Zhou1; Ruibin Huang1; Fei Guo1; Shujuan Yan1; Chunling Ma2; Liyuan Liu2; Huanyi Chen1; Xiang Zhou1; Qiuxia Yu1; Manqiu Yang1; Jin Han1; Dongzhi Li1; Ru Li1; Can Liao1,*
（1 Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou 510620, Guangdong, China；2 The First Clinical Medical College, Southern Medical University, Guangzhou 510515, Guangdong, China）
【Abstract】
Objective To investigate the genetic burden and perinatal outcomes in fetuses of duodenal obstruction.
Method This retrospective study analyzed karyotype, CMA and WES results of singleton fetuses with isolated and non-isolated duodenal obstruction in a tertiary center between January 2014 to September 2023. In addition, perinatal outcomes and operative reports of enrolled cases were followed up and analyzed.
Results A total of 98 fetuses were included in the study, of which 69 (70.4%) were classified as isolated duodenal obstruction and 80 (29.6%) were classified as non-isolated. Rate of genetic aberrations, specifically chromosomal abnormalities, was significantly higher in non-isolated group (15.9% vs 37.9%). Overall, trisomy 21 (9/98 [9.2%]) was the most common chromosomal abnormalities and duplication of the 17q12 region (3/98 [3.2%]) was the most common pathogenic CNV found in fetuses of duodenal obstruction. There were two cases of fetal demise mainly attributed to preterm birth and five cases requiring secondary operation. In isolated group, patients who had undergone MDT were more likely to prefer continuation of pregnancy. In non-isolated group, no significant difference was found between fetuses with solely ultrasonographic soft markers and with structural anomalies with respect to both genetic and perinatal outcomes.
Conclusion The present study highlights the necessity of invasive genetic tests for fetuses of duodenal obstruction, specifically the non-isolated ones with ultrasonographic soft markers or structural anomalies. For isolated cases, counselling in MDT clinics is recommended for it improves confidence of parents-to-be in continuation of pregnancies, considering standard treatments for duodenal obstruction patients have been established.
10）Association of fetal myocardial alterations with congenital heart disease: a preliminary study based on myocardial parametric mapping
Weizeng Zheng 1, Xia Ying 2, Yuan Chen 2, Le Wang 1, Peiyue Jiang 2, Ying Jiang 2, Hong Wang 2, Yimin Zhou 3, Yu Zou 1, Qiong Luo 2, *
（1 Department of Radiology, Women’s Hospital School of Medicine Zhejiang University, Xueshi Rd no.1, Hangzhou, China；2 Department of Obstetrics, Women’s Hospital School of Medicine Zhejiang University, Xueshi Rd no.1, Hangzhou, China；3 Department of Ultrasound, Women’s Hospital School of Medicine Zhejiang University, Xueshi Rd no.1, Hangzhou, China）
【Abstract】
Objective The present study sought to evaluate the feasibility of applying myocardial parametric mapping in post-mortem magnetic resonance imaging (pmMRI) and explore the differences in left ventricular myocardium between congenital heart disease (CHD) fetuses and a control group.
Methods This prospective case-control study was conducted on 11 CHD fetal bodies (CHD group) and 19 control fetal bodies (control group). CHD fetuses were further stratified into the cyanotic (n = 7) and non-cyanotic (n = 4) CHD groups. T1, T2, and proton density (PD) relaxation times of the left ventricular myocardium were calculated and compared based on multiple-dynamic multiple-echo pmMRI imaging technology.
Results The mean gestational age at delivery was 24.091 ± 3.562 weeks in the CHD group. When comparing the CHD group with the control group, myocardial T2 relaxation time was statistically significantly different (p = 0.008), but T1 and PD relaxation times were not. One-way ANOVA with Tukey’s test revealed a significant difference between the cyanotic CHD (99.429 ± 14.409 ms) and control (83.368 ± 9.172 ms) groups (p = 0.004). In addition, the correlation coefficients in the CHD group were statistically significantly different between myocardial T2 relaxation time and peak systolic velocity of pulmonary artery on a fetal echocardiograph (r2 = 0.674, p = 0.023).
Conclusions Quantitative myocardial tissue characterization with T2 mapping may enable noninvasive recognition of cardiac involvement in fetuses with CHD. Future studies will be performed to confirm its role in subtype risk stratification and perinatal management guidance.
